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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POU5F1 Gene

protein-coding   GIFtS: 69
GCID: GC06M031136

POU Class 5 Homeobox 1

(Previous names: POU domain class 5, transcription factor 1)
(Previous symbol: OTF3)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
POU Class 5 Homeobox 11 2     Oct-32 3
OTF31 2 3 5     Oct-42 3
OCT32 3 5     POU Domain Class 5, Transcription Factor 11
Octamer-Binding Protein 32 3     OTF42
Octamer-Binding Protein 42 3     Octamer-Binding Transcription Factor-32
Octamer-Binding Transcription Factor 32 3     POU Domain Transcription Factor OCT42
OCT42 3     POU Domain, Class 5, Transcription Factor 12
OTF-32 3     POU-Type Homeodomain-Containing DNA-Binding Protein2

External Ids:    HGNC: 92211   Entrez Gene: 54602   Ensembl: ENSG000002045317   OMIM: 1641775   UniProtKB: Q018603   

Export aliases for POU5F1 gene to outside databases

Previous GC identifers: GC08P127435 GC06M031188 GC06M030902 GC06M031238 GC06M031240 GC06M031133 GC06M030934


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POU5F1 Gene:
This gene encodes a transcription factor containing a POU homeodomain. This transcription factor plays a role in
embryonic development, especially during early embryogenesis, and it is necessary for embryonic stem cell
pluripotency. A translocation of this gene with the Ewing's sarcoma gene, t(6;22)(p21;q12), has been linked to
tumor formation. Alternative splicing, as well as usage of alternative translation initiation codons, results in
multiple isoforms, one of which initiates at a non-AUG (CUG) start codon. Related pseudogenes have been
identified on chromosomes 1, 3, 8, 10, and 12. (provided by RefSeq, Mar 2010)

GeneCards Summary for POU5F1 Gene: 
POU5F1 (POU class 5 homeobox 1) is a protein-coding gene. Diseases associated with POU5F1 include central nervous system germinoma, and immature teratoma of ovary, and among its related super-pathways are GSK3 Signaling and Wnt Signaling Pathway. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO5F1_HUMAN, Q01860
Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with
SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1,
FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency

Gene Wiki entry for POU5F1 (Oct-4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POU5F1 gene promoter:
         AP-1   MyoD   STAT3   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POU5F1 promoter sequence
   Search SABiosciences Chromatin IP Primers for POU5F1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POU5F1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.33

POU5F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU5F1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031136:  view genomic region     (about GC identifiers)

Start:
31,132,114 bp from pter      End:
31,148,508 bp from pter
Size:
16,395 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167248 2,427,966-2,434,320      Chr6-,NT_167247 2,514,037-2,520,393      Chr6-,NT_167245 2,429,238-2,435,593     
Chr6-,NT_167246 2,480,458-2,486,814      Chr6-,NT_167249 2,467,051-2,473,404      Chr6-,NT_113891.2 2,646,867-2,653,222     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PO5F1_HUMAN, Q01860 (See protein sequence)
Recommended Name: POU domain, class 5, transcription factor 1  
Size: 360 amino acids; 38571 Da
Subunit: Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2
Subcellular location: Cytoplasm. Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern
Developmental stage: Highly expressed in undifferentiated embryonic stem cells and expression decreases gradually
after embryoid body (EB) formation
Biotechnology: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors
are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent
stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes
Miscellaneous: Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them,
localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved
in the regulation of POU5F1 gene activity in carcinogenesis
Secondary accessions: A6NCS1 A6NLL8 D2IYK4 P31359 Q15167 Q15168 Q16422 Q5STF3 Q5STF4
Alternative splicing: 2 isoforms:  Q01860-1   Q01860-2   

Explore the universe of human proteins at neXtProt for POU5F1: NX_Q01860

Explore proteomics data for POU5F1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for
    enhanced YES1 expression (By similarity)
  • UniProtKB: Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation (By
    similarity)
  • UniProtKB: ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation
    at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01860

  • POU5F1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POU5F1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001167002.1  NP_002692.2  NP_976034.4  

    ENSEMBL proteins: 
     ENSP00000389359   ENSP00000259915   ENSP00000425479   ENSP00000475880   ENSP00000475512  
     ENSP00000425083  

    Human Recombinant Protein Products for POU5F1: 
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    Novus Biologicals POU5F1 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for POU5F1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18000303
    GO:0005654nucleoplasm IDA--
    GO:0005667transcription factor complex IDA19736317
    GO:0005737cytoplasm IDA18281244
    GO:0005829cytosol IDA18000303

    POU5F1 for ontologies           About GeneDecksing



    POU5F1 Antibody Products: 
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    R&D Systems Antibodies for POU5F1 (Oct-4A, Oct-3/4)
    Cell Signaling Technology (CST) Antibodies for POU5F1  (4-Oct)
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    ThermoFisher Antibody for POU5F1
    LSBio Antibodies in human, mouse, rat for POU5F1 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    POU: Homeoboxes / POU class

    5/7 InterPro protein domains (see all 7):
     IPR010982 Lambda_DNA-bd_dom
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain

    Graphical View of Domain Structure for InterPro Entry Q01860

    ProtoNet protein and cluster: Q01860

    2 Blocks protein domains:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: PO5F1_HUMAN, Q01860
    Domain: The POU-specific domain mediates interaction with PKM
    Similarity: Belongs to the POU transcription factor family. Class-5 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    POU5F1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PO5F1_HUMAN, Q01860
    Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with
    SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1,
    FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency
    Induction: Transcriptional activity is positively regulated by PKM

         Genatlas biochemistry entry for POU5F1:
    POU domain,class 5,transcription factor 1,expressed in neuronal cells,with OCT5 likely a proteolytic product of
    OCT3

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ISS--
    GO:0003677DNA binding IDA16153702
    GO:0003700sequence-specific DNA binding transcription factor activity IDA16153702
    GO:0005515protein binding IPI11099378
    GO:0008134transcription factor binding IPI19736317
         
    POU5F1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POU5F1:
     Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Pou5f1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     hematopoietic system  integument  liver/biliary system  mortality/aging  nervous system 
     normal  reproductive system 

    POU5F1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pou5f1tm1.1Scho for POU5F1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for POU5F1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POU5F1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POU5F1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POU5F1 

    miRNA
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    miRTarBase miRNAs that target POU5F1:
    hsa-mir-145 (MIRT004904)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POU5F1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate POU5F1:
    hsa-miR-3606 hsa-miR-3658 hsa-miR-103a-2* hsa-miR-3657 hsa-miR-335
    SwitchGear 3'UTR luciferase reporter plasmidPOU5F1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for POU5F1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU5F1
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                         Customized lentivirus expression plasmids for stable overexpression of POU5F1 

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    Human Embryonic Stem Cell Line ESI-035, Human Embryonic Stem Cell Line ESI-049,
    Human Embryonic Stem Cell Line ESI-051, Human Embryonic Stem Cell Line ESI-053
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU5F1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POU5F1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    2Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency0.55
    3Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    4PKA activation in glucagon signalling
    Development Role of Activin A in cell differentiation and proliferation0.33
    5Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for POU5F1
        Development Role of Activin A in cell differentiation and proliferation
    Selected targets of Oct-3/4

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for POU5F1
        Transcriptional Regulatory Network in Embryonic Stem Cell
    Oct4 in Mammalian ESC Pluripotency
    Human Embryonic Stem Cell Pluripotency
    Nanog in Mammalian ESC Pluripotency
    Human Early Embryo Development

    1 Cell Signaling Technology (CST) Pathway for POU5F1
        Wnt / Hedgehog / Notch

    1 GeneGo (Thomson Reuters) Pathway for POU5F1
        Development Role of Activin A in cell differentiation and proliferation

    4 BioSystems Pathways for POU5F1
        Wnt Signaling Pathway and Pluripotency
    SIDS Susceptibility Pathways
    Cardiac Progenitor Differentiation
    HIF-2-alpha transcription factor network




    POU5F1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POU5F1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/203 Interacting proteins for POU5F1 (Q018601, 2, 3 ENSP000002599154) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001714endodermal cell fate specification IDA--
    GO:0001824blastocyst development ISS--
    GO:0003130BMP signaling pathway involved in heart induction IMP19736317
    GO:0006355regulation of transcription, DNA-dependent IDA16153702
    GO:0006366transcription from RNA polymerase II promoter ISS--

    POU5F1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POU5F1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for POU5F1 (PO5F1)

    2 DrugBank Compounds for POU5F1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DopamineDopamin (see all 6)51-61-6transportersubstrate20402963
    NorepinephrineArterenol (see all 4)51-41-2transportersubstrate20402963

    4 Novoseek inferred chemical compound relationships for POU5F1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    slex 56.7 5 16894532 (2), 19755485 (1), 15342930 (1), 20177991 (1)
    retinoic acid 36.8 13 1915274 (3), 7501302 (2), 12841847 (1), 19719918 (1) (see all 8)
    vegf 8.99 1 18729794 (1), 18332870 (1)
    oxygen 0 5 19755485 (1), 20177991 (1), 16510872 (1)

    1 PharmGKB related drug/compound annotation for POU5F1 gene    About this table
    Drug/compound PharmGKB Annotation
    allopurinolCA  

    Search CenterWatch for drugs/clinical trials and news about POU5F1 / PO5F1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POU5F1 gene (3 alternative transcripts): 
    NM_001173531.1  NM_002701.4  NM_203289.4  

    Unigene Cluster for POU5F1:

    POU class 5 homeobox 1
    Hs.249184  [show with all ESTs]
    Unigene Representative Sequence: NM_203289
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441888 ENST00000259915(uc003nsv.3) ENST00000512818(uc021yuj.1)
    ENST00000606567 ENST00000513407(uc003nsu.3) ENST00000471529 ENST00000461401

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POU5F1
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    Additional mRNA sequence: 

    AM851115.1 AM851116.1 AM851117.1 AM851118.1 AM851119.1 AM851120.1 AM851121.1 AM851122.1 
    AM851123.1 AM851124.1 AM851125.1 AM851126.1 BC020712.1 BC069246.1 BC117435.1 BC117437.1 
    DQ486515.1 DQ486516.1 DQ486517.1 FM177951.1 FM177952.1 FM177953.1 FM177954.1 FM177955.1 
    FM177956.1 FM177957.1 FM177958.1 FM177959.1 FM177960.1 FM177961.1 FM177962.1 FM177963.1 
    FM177964.1 FM177965.1 FM177966.1 FM177967.1 FM177968.1 S81255.1 Z11898.1 Z11899.1 

    8 DOTS entries:

    DT.75142423  DT.100791936  DT.100018840  DT.102825540  DT.100791937  DT.121173762  DT.121322086  DT.75109570 

    9 AceView cDNA sequences:

    Z11899 BC020712 BC069246 NM_002701 NM_203289 Z11898 BF871564 BF930231 
    S81255 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POU5F1 expression in normal human tissues (normalized intensities)      POU5F1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCACTTTT
    POU5F1 Expression
    About this image


    POU5F1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 122 entries
             Inner Cell Mass Cells Inner Cell Mass
             CA2
             Matrigel embedded cells ( Derivation of cardiomyocytes from pluripotent stem cells...
             ESI-053   
     
     Gonad
             Oogonia Ovigerous Cord
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 7 entries
             Primordial Germ Cell Precursors Epiblast
             Epiblast Stem Cells
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 7 entries
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)    fully expand to see all 6 entries
             Oogonia Ovigerous Cord

    See POU5F1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POU5F1

    SOURCE GeneReport for Unigene cluster: Hs.249184

    UniProtKB/Swiss-Prot: PO5F1_HUMAN, Q01860
    Tissue specificity: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the
    olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including POU5F1 (see all 6): 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for POU5F1
    OriGene qSTAR qPCR primer pairs in human, mouse for POU5F1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat POU5F1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POU5F1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POU5F1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU5F1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for POU5F1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pou5f11 , 5 POU domain, class 5, transcription factor 11, 5 83.71(n)1
    86.08(a)1
      17 (18.69 cM)5
    189991  NM_013633.31  NP_038661.21 
     355060375 
    chicken
    (Gallus gallus)
    Aves POUV6
    POU domain class 5 transcription factor 1
    41(a)
    possible ortholog
    17(460123-461472)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    57(a)
    1 → many
    GL343623.1(305510-323263)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.232762 Xenopus laevis transcribed sequence with moderate similarity more 80.05(n)    BQ900469.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pou5f12 POU domain, class 5, transcription factor 1 74.89(n)   30333  NM_131112.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-186
    Homeobox protein ceh-18
    15(a)
    1 → many
    X(3843827-3857797)


    ENSEMBL Gene Tree for POU5F1 (if available)
    TreeFam Gene Tree for POU5F1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POU5F1 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU3F42  POU1F12  POU3F32  
    POU4F32  POU3F22  POU2F22  POU5F1B2  POU4F12  POU2F12  POU6F12  
    14 SIMAP similar genes for POU5F1 using alignment to 52 protein entries:     PO5F1_HUMAN (see all proteins):
    POU5F1B    POU5F1P1    POU5F1P4    POU5F1P3    OCT6    POU1F1
    POU3F4    POU6F1    POU3F2    POU5F2    POU2F1    POU2F3
    POU3F1    POU2F2

    POU5F1 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for POU5F1 (see all 6)
    PGOHUM00000239313 PGOHUM00000245013 PGOHUM00000237756 PGOHUM00000238106 PGOHUM00000235313


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    221/226 SNPs in POU5F1 are shown (see all 226)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0462044
    ----see VAR_0462042 T I mis40--------
    VAR_0037754
    ----see VAR_0037752 M L mis40--------
    VAR_0037744
    ----see VAR_0037742 T A mis40--------
    rs23948821,2
    C,F,A,H--31132649(+) CCTGCC/AAGTGA 3 -- int130Minor allele frequency- A:0.32NS EA NA WA CSA EU 4126
    rs92637951,2
    C,F,H--31132656(+) GTGAAT/CGACAG 3 -- int16Minor allele frequency- C:0.06EA NS NA EU 1607
    rs1919683711,2
    C,F--31132676(+) TGACAT/CTAGAC 3 -- int11Minor allele frequency- C:0.00EU 1063
    rs1827553761,2
    --31132710(+) CTGCTC/TGGACA 3 -- int10--------
    rs92637961,2
    C,F,H--31132883(+) GAGCCC/TGCAGA 3 -- int121Minor allele frequency- T:0.13NS EA NA WA CSA EU 3563
    rs178518181,2
    C,F--31132956(+) AGTGTG/CGGTTT 6 /P syn1 ese38Minor allele frequency- C:0.07NA EA WA EU 6766
    rs11507671,2,4
    C,F,H--31133045(-) AAACCC/TTCGTG 6 L F mis1 ese310Minor allele frequency- T:0.03MN NS EA NA 922
    rs3682770841,2
    C--31133324(+) GTCCCC/TGGGTA 3 -- int10--------
    rs1152345111,2
    C,F--31133405(+) GGCCGC/AAGCTT 6 /L syn12Minor allele frequency- A:0.00WA NA 4448
    rs21060741,2
    C,F,O,A,H--31133509(-) CCTCAT/CTTTGC 3 -- int140Minor allele frequency- C:0.35EA NS NA WA CSA EU 5754
    rs1870467321,2
    C--31133521(+) AGCACA/GCAGGG 3 -- int10--------
    rs2007146911,2
    --31133580(+) CAAAG-/CCCATCT 3 -- int10--------
    rs454384021,2
    C,F--31133663(+) CTCCTT/CAGAGG 3 -- int13Minor allele frequency- C:0.09WA NA EU 1352
    rs455063941,2
    C,F--31133677(+) GATGCG/AGTCAG 3 -- int12Minor allele frequency- A:0.02NA EU 1291
    rs2003709961,2
    C--31133683(+) GTCAG-/AATCTG 3 -- int10--------
    rs1503202881,2
    F--31133786(+) GCAAAT/CTGCTC 4 /Q syn1 ut511Minor allele frequency- C:0.00NA 4548
    rs1490258841,2
    C,F--31133808(+) GCAGAG/ACTTTG 4 /A /V mis1 ut511Minor allele frequency- A:0.00NA 4548
    rs728567361,2
    C,F--31133870(+) CACCAG/ATTATC 3 -- int1 ut514Minor allele frequency- A:0.09WA NA EA EU 1681
    rs95010631,2
    C,F,A,H--31133894(+) CATTCG/CGGATT 3 -- int1 ut51 ese327Minor allele frequency- C:0.13EA NA NS WA CSA 2984
    rs31309321,2
    C,F,H--31133943(-) GCAGAT/GGCACT 3 -- int1 ut51 ese328Minor allele frequency- G:0.31NS EA NA WA CSA 2773
    rs763643401,2
    C--31133982(+) AATAAC/TCTACC 3 -- int1 ut512Minor allele frequency- T:0.08NA EA 122
    rs1155136681,2
    C,F--31134033(+) CATGTA/TACAAA 3 -- int1 ut511Minor allele frequency- T:0.03NA 120
    rs12651631,2
    C,F,O,H--31134087(-) TTCACG/CATGCT 3 -- int1 ut5116Minor allele frequency- C:0.18MN NS EA WA NA 2518
    rs715633101,2
    C--31134122(+) TCGAGC/AACACC 3 -- int1 ut511Minor allele frequency- A:0.50NA 2
    rs31325261,2
    C,F,A--31134175(-) TAGGCA/GTGAGC 3 -- int1 ut517Minor allele frequency- G:0.23NA WA CSA 13
    rs1510953081,2
    C--31134323(+) CCCAGC/TTACTC 3 -- int1 ut510--------
    rs1410179741,2
    --31134361(+) AACCCG/TGGAGG 3 -- int1 ut510--------
    rs734010311,2
    C--31134482(+) AAATTC/ATCTCA 3 -- int1 ut513Minor allele frequency- A:0.03WA NA 240
    rs37573491,2
    C,F,H--31134532(+) GAGAAA/GTAGAT 3 -- int1 ut5117Minor allele frequency- G:0.06NA NS EA 1714
    rs119654541,2
    C,F,H--31134591(+) GAAGCT/CAAATT 3 -- int1 ut5111Minor allele frequency- C:0.14NS EA NA WA 782
    rs92638001,2
    C,F,H--31134599(+) ATTCAG/ATATAT 3 -- int1 ut5132Minor allele frequency- A:0.12NS EA NA WA CSA 3318
    rs728567371,2
    C,F--31134625(+) CTTTGA/GGGGTC 3 -- int1 us2k12Minor allele frequency- G:0.06WA NA 238
    rs770855531,2
    C--31134725(+) TACTCA/CTTTTT 3 -- int1 us2k10--------
    rs764652891,2
    C--31134833(+) GCCAGC/TGGCTA 3 -- int1 us2k13Minor allele frequency- T:0.04NA EA 242
    rs31309311,2
    C,F,A,H--31134888(-) GTGCCG/AAATAG 3 -- int1 us2k142Minor allele frequency- A:0.30NS EA NA MN WA CSA 4586
    rs92638021,2
    C,F,H--31135136(+) CGTGCC/TGCCCC 3 -- int1 us2k110Minor allele frequency- T:0.11NS EA WA NA CSA 778
    rs287543231,2
    C--31135137(+) GTGCCG/ACCCCT 3 -- int1 us2k12Minor allele frequency- A:0.08WA 120
    rs1450245481,2
    C--31135167(+) TATTT-/AAAAAAT 3 -- int1 us2k10--------
    rs31309301,2
    C,A--31135172(-) TATATT/ATTTTA 3 -- int1 us2k18Minor allele frequency- A:0.30NA WA CSA EA 367
    rs1154879751,2
    F--31135189(+) TTATGG/CAAAAA 3 -- int1 us2k11Minor allele frequency- C:0.09WA 118
    rs14198801,2
    C,F,A,H--31135197(-) GCTTTA/GCTTTT 3 -- int1 us2k115Minor allele frequency- T:0.00NA NS EA WA CSA 851
    rs31309291,2
    C,A--31135207(-) CGCCCG/AGACTG 3 -- int1 us2k19Minor allele frequency- A:0.24NA WA CSA EA 368
    rs25179481,2
    C--31135282(-) gtctcA/Gaactc 3 -- int1 us2k10--------
    rs25179471,2
    C--31135283(-) agtctT/Caaact 3 -- int1 us2k11Minor allele frequency- C:0.00NA 2
    rs20213751,2
    C,A--31135387(-) CTGCCC/TCAGCC 3 -- int1 us2k14Minor allele frequency- T:0.14NA CSA 7
    rs1924632251,2
    --31135440(+) AGATCA/GCACCA 3 -- int1 us2k10--------
    rs1490907081,2
    C--31135467(+) GGGAC-/AGAGTGA 3 -- int1 us2k10--------
    rs92812361,2
    C--31135492(+) AAAAA-/ATAAAG 3 -- int1 us2k10--------
    rs1390378901,2
    --31135599(+) AGGACA/TAGAGT 3 -- int1 us2k10--------
    rs1161125771,2
    C,F--31135674(+) TCCTGT/CTGCAG 3 -- int1 us2k11Minor allele frequency- C:0.02WA 118
    rs92638041,2
    C,F,H--31135706(+) CCAAGT/CGAAAT 3 -- int1 us2k131Minor allele frequency- C:0.24NS EA NA WA CSA 2918
    rs3725117521,2
    C--31135723(+) TCACC-/CTTTTTC 3 -- int1 us2k10--------
    rs1138602931,2
    C--31135729(+) TTTCTC/-CCCCA 3 -- int1 us2k11Minor allele frequency- -:0.50CSA 2
    rs92638051,2
    C,F,H--31135735(+) TCCCCC/ACCAAG 3 -- int1 us2k116Minor allele frequency- A:0.23NS EA NA WA CSA 1983
    rs2003207151,2
    C--31135735(+) TCCCC-/A/C/CC
            
    CCAAG
    3 -- int1 us2k10--------
    rs2013806471,2
    C--31135739(+) ACCAA-/AGACGG 3 -- int1 us2k10--------
    rs1843629581,2
    --31135743(+) AAGACA/GGAATC 3 -- int1 us2k10--------
    rs1135420241,2
    C,F--31135777(+) TGCTGT/GGGCGT 3 -- int1 us2k11Minor allele frequency- G:0.06NA 120
    rs1172070651,2
    C,F--31135824(+) AAGCTA/TTTCTG 3 -- int1 us2k11Minor allele frequency- T:0.03EA 120
    rs1905690731,2
    --31135877(+) ATGCCC/TGGCTA 3 -- int1 us2k10--------
    rs1422427251,2
    C--31135878(+) TGCCCA/GGCTAA 3 -- int1 us2k10--------
    rs1932436661,2
    --31135889(+) TTTTTC/GTATTT 3 -- int1 us2k10--------
    rs30941951,2
    C,F--31135966(-) TGGGAA/GGCCAA 3 -- int1 us2k16Minor allele frequency- G:0.27NA CSA 11
    rs1854026871,2
    --31135989(+) TACAGC/GTGTGA 3 -- int1 us2k10--------
    rs1416556261,2
    --31136001(+) CCACCA/GCACCT 3 -- int1 us2k10--------
    rs31309281,2
    C,F,A--31136097(-) AGATGT/GAGGTT 3 -- int1 us2k16Minor allele frequency- G:0.18NA WA CSA 11
    rs1889388671,2
    --31136119(+) GCGATG/TCTCCT 3 -- int1 us2k10--------
    rs1484567601,2
    --31136131(+) CCTCAG/TCTTCC 3 -- int1 us2k10--------
    rs1814341831,2
    --31136170(+) ACCACA/GCCCAG 3 -- int1 us2k10--------
    rs1417155281,2
    C--31136208(+) GGTTTC/TGCCAT 3 -- int1 us2k10--------
    rs30941941,2
    C,F,A--31136240(-) GAGGTT/CGGGAG 3 -- int1 us2k16Minor allele frequency- C:0.18NA WA CSA 11
    rs1855258471,2
    C--31136314(+) GTTGAC/TGTGTT 3 -- int1 us2k10--------
    rs31305011,2
    C,F,O,A,H--31136453(+) AGGACG/ATGAAA 3 -- int1 us2k131Minor allele frequency- A:0.24NA NS EA WA CSA 2918
    rs1884778841,2
    --31136496(+) AACTGC/GGTGAT 3 -- int1 us2k10--------
    rs1406623901,2
    C--31136499(+) TGGGTC/GATCAG 3 -- int1 us2k10--------
    rs1810773821,2
    --31136545(+) AAAACG/TCGGTA 3 -- int1 us2k10--------
    rs1860558651,2
    --31136546(+) AAACGC/TGGTAG 3 -- int1 us2k10--------
    rs1142634791,2
    C,F--31136575(+) GCATTT/CAAGCC 3 -- int1 us2k12Minor allele frequency- C:0.05NA EA 240
    rs92638091,2
    C,F,H--31136577(+) ATTTAA/GGCCTT 3 -- int1 us2k110Minor allele frequency- G:0.10NS EA WA NA CSA 782
    rs31305021,2
    C,F,A,H--31136666(+) CCGGCG/AGACAG 1 -- int129Minor allele frequency- A:0.25NS EA NA WA CSA 2941
    rs31325241,2
    C,F,O,A,H--31136714(-) TTCAGG/AACTAC 1 -- int132Minor allele frequency- A:0.24NA NS EA WA CSA 2919
    rs178400291,2
    C,F--31136752(+) TGATCA/GTATCA 1 -- int14Minor allele frequency- G:0.04NA 262
    rs31325231,2
    C,F,A,H--31136832(-) ATCCAG/AGATAG 1 -- int123Minor allele frequency- A:0.24NS EA NA WA CSA 2350
    rs1164594861,2
    C,F--31136853(+) CTGTTT/CTGGGG 1 -- int11Minor allele frequency- C:0.01WA 118
    rs1444980121,2
    C--31136888(+) TCCTCA/GCTTCA 1 -- int10--------
    rs1906330651,2
    --31136974(+) AATGAC/TGTATA 1 -- int10--------
    rs1478801421,2
    C--31136978(+) ATGTAC/TAAACG 1 -- int10--------
    rs715633111,2
    C--31136994(+) CACAGC/ACAGGC 1 -- int12Minor allele frequency- A:0.02NA 122
    rs31305031,2
    C,F,H--31137165(+) CCTTGG/AAGGAC 1 -- int138Minor allele frequency- A:0.21NS EA NA MN WA CSA 4171
    rs1441313541,2
    C--31137235(+) TCTAT-/ATTTGC 1 -- int10--------
    rs567527561,2
    C--31137365(+) CCAGTC/TATTGG 1 -- int13Minor allele frequency- T:0.10WA EA 240
    rs610363611,2
    C--31137385(+) GAGAT-/CCGGGG 1 -- int10--------
    rs728567481,2
    C--31137387(+) GATCCC/GGGGAA 1 -- int10--------
    rs2018676171,2
    --31137387(+) GATCC-/GGGGAA 1 -- int10--------
    rs1863469431,2
    --31137437(+) AACGCA/GCACAC 1 -- int10--------
    rs12651621,2
    C,H--31137488(-) AAAGTC/TTAGGG 1 -- int11Minor allele frequency- T:0.01MN 184
    rs1177569951,2
    C,F--31137553(+) CCTAAG/AGCCAA 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1500100741,2
    C--31137580(+) AGGGTA/CAAATT 1 -- int10--------
    rs92638101,2
    C,F--31137632(+) CCCAAG/CCTGGG 1 -- int15Minor allele frequency- C:0.16WA NA CSA 244
    rs12651611,2
    C,F,H--31137660(-) GGTCAC/TTCATT 1 -- int117Minor allele frequency- T:0.08NS EA NA WA 2216
    rs614652711,2
    C--31137712(+) GGGCTA/GGGCCA 1 -- int12Minor allele frequency- G:0.25WA NA 4
    rs572299951,2
    C--31137735(+) GCCTGG/CGCCAG 1 -- int14Minor allele frequency- C:0.21WA CSA EA 241
    rs92638111,2
    C,F--31137745(+) GCTTCC/TGACTC 1 -- int17Minor allele frequency- T:0.13WA NA CSA EA 364
    rs31325221,2
    C,F,A--31137759(-) AGAGCG/AGCCTG 1 -- int112Minor allele frequency- A:0.26NA WA CSA EA 374
    rs30941931,2
    C,F,A,H--31137774(-) ACTGCA/CGGTGA 1 -- int111Minor allele frequency- C:0.37NA WA CSA EA 372
    rs560713571,2
    C--31137798(+) TCCAGC/TTTCCA 1 -- int16Minor allele frequency- T:0.21WA NA CSA EA 363
    rs30941921,2
    C,F,A,H--31137804(-) GGGAAC/GTGGAA 1 -- int112Minor allele frequency- G:0.27NA WA CSA EA 374
    rs1872842091,2
    --31137809(+) CTTCCA/CACCTG 1 -- int10--------
    rs31305041,2
    C,F--31137837(+) CTGCCT/AGCAGT 1 -- int111Minor allele frequency- A:0.27NA WA CSA EA 373
    rs1179559831,2
    C,F--31137979(+) CCCGTC/TGAAGC 1 -- int12Minor allele frequency- T:0.01EA EU 1229
    rs1449011571,2
    C,F--31138045(+) CAGGGG/ATGACG 2 /T /I mis11Minor allele frequency- A:0.00NA 3718
    rs1827264721,2
    --31138049(+) GGTGAC/TGGTGC 2 I V mis10--------
    rs1879018141,2
    --31138077(+) CCATCA/GGAGTT 2 S syn10--------
    rs10626301,2
    C,F,A--31138107(-) GAGGGC/TGAAGC 2 G syn110Minor allele frequency- T:0.23MN NS NA CSA EU 5636
    rs771722441,2
    C,F--31138204(+) ACGGCG/AGGGGG 2 /P /L mis11Minor allele frequency- A:0.00NA 2976
    rs412579541,2
    C,F--31138310(+) ATCAAC/TCCAGC 2 I V mis14Minor allele frequency- T:0.02NA EU 361
    rs1175852981,2
    C,F--31138335(+) CCTGGC/TCCATC 2 G syn11Minor allele frequency- T:0.10EA 120
    rs12651601,2
    C,F,A,H--31138371(-) GATTTC/TGCCTT 2 F syn17Minor allele frequency- T:0.17NA MN NS EU 701
    rs20770101,2
    C,F,A--31138377(-) GCTTCG/AGATTT 2 /S syn18Minor allele frequency- A:0.39NA MN NS CSA EU 470
    rs1921465521,2
    C--31138411(+) AAGGCG/ACCCCA 1 -- ut511Minor allele frequency- A:0.00EU 363
    rs171971991,2
    C,F--31138472(+) CTCTCC/TCTCCC 1 -- us2k1 tfbs3 trp36Minor allele frequency- T:0.12MN WA NA EA 448
    rs1407358901,2
    --31138511(+) GCCCCA/GCCCCC 1 -- us2k10--------
    rs122159631,2
    C,F,H--31138619(+) GAGACA/GCAACT 1 -- us2k113Minor allele frequency- G:0.03NS EA MN NA 1838
    rs1847689601,2
    --31138628(+) CTGGCA/GCCCCT 1 -- us2k10--------
    rs1172653491,2
    C,F--31138692(+) AGACAG/AGGTCT 1 -- us2k11Minor allele frequency- A:0.07EA 120
    rs171908391,2
    C,F--31138707(+) TTGTTG/ACCCAG 1 -- us2k17Minor allele frequency- A:0.12MN NA WA EA 450
    rs92638161,2
    C,F--31138797(+) CCTAAG/TTGGCT 1 -- us2k18Minor allele frequency- T:0.12NA MN WA CSA EA 452
    rs30941911,2
    C,F,H--31138910(-) GGAGGA/GTTTCT 1 -- us2k114Minor allele frequency- G:0.06NS EA NA MN CSA WA 751
    rs92638171,2
    C,F--31138917(+) CTCCCG/ACCTCT 1 -- us2k17Minor allele frequency- A:0.16NA MN WA CSA 332
    rs92638181,2
    C,F--31139040(+) CCACAC/ACTCCA 1 -- us2k18Minor allele frequency- A:0.13NA MN WA CSA EA 454
    rs1385386571,2
    --31139070(+) TGCTTA/GACCCC 1 -- us2k10--------
    rs1875862241,2
    C--31139076(+) ACCCCC/TTCTCC 1 -- us2k10--------
    rs171972201,2
    C,F--31139131(+) GCTCCT/CCAAAT 1 -- us2k11Minor allele frequency- C:0.09MN 88
    rs1922299791,2
    --31139155(+) GTGTGA/GCGCTA 1 -- us2k10--------
    rs1158120721,2
    C,F--31139217(+) CCTTCC/TCCCGA 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1842547651,2
    C--31139286(+) GCCTGA/GGTGCC 1 -- us2k10--------
    rs58752891,2
    C--31139376(+) CCCCC-/CATCCC 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs8798821,2
    C,F,A,H--31139452(+) GTTGGC/TCCCTA 1 -- us2k126Minor allele frequency- T:0.47MN NS EA NA CSA WA 3115
    rs8859521,2
    C,F,A,H--31139490(-) GCCCAG/ATCAGT 1 -- us2k125Minor allele frequency- A:0.42MN NS EA NA CSA WA 3123
    rs11087461,2
    C,F,H--31139504(+) AGTTTC/ACCAAC 1 -- us2k118Minor allele frequency- A:0.12NS EA NA WA 2470
    rs1897625831,2
    --31139735(+) AGGTTC/GAAAGA 1 -- us2k10--------
    rs1424932991,2
    C--31139962(+) CTCTG-/CCAATC 1 -- us2k10--------
    rs31325201,2
    C,A,H--31140008(-) CCTGTG/AGGGGG 1 -- us2k15Minor allele frequency- A:0.43NA CSA WA EA 361
    rs12651591,2
    C,F,A,H--31140047(-) TGAGTC/TCCCCA 1 -- us2k126Minor allele frequency- T:0.18MN NS EA NA CSA WA 3121
    rs1163719771,2
    C,F--31140068(+) TTCATC/TGTGCG 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs30941901,2
    C,F,A,H--31140073(-) AGGGAT/CGCACG 1 -- us2k111Minor allele frequency- C:0.40NA WA CSA EA 373
    rs31325191,2
    C,F,A,H--31140088(-) CTGCCG/AGGCTC 1 -- us2k1 tfbs310Minor allele frequency- A:0.42NA WA CSA EA 371
    rs8859511,2
    C,A,H--31140091(-) AATCTT/GCCAGG 1 -- us2k18Minor allele frequency- G:0.48MN NA CSA WA EA 549
    rs1814111891,2
    --31140125(+) GGCTGC/GCTGGC 1 -- us2k10--------
    rs8859501,2
    C,F,A,H--31140152(-) CACTCT/GCCACC 1 -- us2k127Minor allele frequency- G:0.42MN NS EA NA CSA WA 3123
    rs31325181,2
    C,F,A,H--31140169(-) TGCACG/CCCTCC 1 -- us2k115Minor allele frequency- C:0.27NS EA NA WA CSA 789
    rs8859491,2
    C,F,A,H--31140220(-) AGGCCA/GGGCCC 1 -- us2k114Minor allele frequency- G:0.15MN NS EA NA WA 1156
    rs1160598871,2
    F--31140224(+) CTGGCC/GTGAGT 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1845718871,2
    --31140264(+) CTTGAC/TTCTGT 1 -- us2k10--------
    rs1895446781,2
    --31140289(+) CCAACA/GGAATG 1 -- us2k10--------
    rs171972271,2
    C,F--31140411(+) AGCTTC/TGAAGG 1 -- us2k13Minor allele frequency- T:0.03MN NA EA 218
    rs95010641,2
    C,F--31140445(+) GCACGC/TTGACC 1 -- us2k17Minor allele frequency- T:0.16MN NA WA EA 460
    rs3688679301,2
    ----31135582(+) AGGTG-/TTGT  
            
    TGTTT
    3 -- int1 us2k10--------
    rs3707688211,2
    ----31139830(+) AAACAA/GTGCTC 1 -- us2k10--------
    rs1995542731,2
    ----31137159(+) TTGTCA/GCCTTG 1 -- int10--------
    rs3688657571,2
    ----31133693(+) GCAGAA/GGGGAA 3 -- int10--------
    rs585359851,2
    ----31134007(+) ACCCAA/TTCCCT 3 -- int1 ut510--------
    rs2007697401,2
    ----31138311(+) TCAACA/CCAGCC 2 W C mis10--------
    rs1156885011,2
    ----31135730(+) TTTTCC/TCCCCA 3 -- int1 us2k10--------
    rs2007841651,2
    ----31133499(+) CAAAAG/AAGAAG 3 -- int11Minor allele frequency- A:0.00EU 973
    rs624012851,2
    ----31136701(+) ACAAGG/TCCTTT 1 -- int10--------
    rs3706904901,2
    ----31138157(+) CACTCC/TAACCT 2 R G mis10--------
    rs3684342721,2
    ----31133001(+) CTCACA/TCGGTT 6 R syn10--------
    rs3746856411,2
    ----31138201(+) CATACA/GGCGGG 2 P L mis10--------
    rs3708340401,2
    ----31138994(+) CTGGC-/CTTCTCT 1 -- us2k10--------
    rs3732128431,2
    ----31136891(+) TCGCTC/TCATCA 1 -- int10--------
    rs3742075051,2
    ----31137972(+) CCCCAA/GCCCCG 1 -- int10--------
    rs3728313721,2
    ----31135771(+) CTGGAA/GGCTGT 3 -- int1 us2k10--------
    rs112867101,2
    ----31134082(+) GCAGA-/AGCATG 3 -- int1 ut510--------
    rs3764880541,2
    ----31139176(+) ATCAA-/CCCCAGCC 2 -- us2k1 cds10--------
    rs2009414591,2
    ----31134439(+) TCAAAA/GAAAAA 3 -- int1 ut510--------
    rs2021441811,2
    ----31136450(+) TGTAGG/TACATG 3 -- int1 us2k10--------
    rs3727943181,2
    ----31136209(+) GTTTCA/GCATGT 3 -- int1 us2k10--------
    rs1379360401,2
    ----31133805(+) TCTGCA/GGAGCT 4 P L mis1 ut511Minor allele frequency- G:0.00NA 4550
    rs3722203221,2
    ----31133225(+) TGAGGA/CTTTCA 3 -- int10--------
    rs2018765581,2
    ----31134440(+) CAAAGA/GAAAAA 3 -- int1 ut510--------
    rs1131182111,2
    ----31139936(+) ACGCTC/AAAAGG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1387359651,2
    ----31138099(+) CGACTC/ACTGCT 2 /G /V mis11Minor allele frequency- A:0.00NA 4278
    rs3676528431,2
    ----31133484(+) CTGGGA/GAGGCC 3 -- int10--------
    rs2015763211,2
    ----31134721(+) TACTTA/CCTCAT 3 -- int1 us2k10--------
    rs2017907721,2
    ----31138134(+) AAGCCG/ACCTTG 2 /G syn11Minor allele frequency- A:0.00EU 1299
    rs1417662531,2
    ----31132591(+) TAGTCG/ACTGCT 6 /S syn11Minor allele frequency- A:0.00NA 4206
    rs3687511701,2
    ----31137386(+) AGATC-/CGGGGA 1 -- int10--------
    rs112867111,2
    ----31134075(+) AAGGG-/GATGCA 3 -- int1 ut510--------
    rs3747179631,2
    ----31138904(+) TCCTCA/GGAAAT 1 -- us2k10--------
    rs3772633301,2
    ----31137748(+) TTCCG-/CTTCTCC 1 -- int10--------
    rs3713937321,2
    ----31137233(+) GCTCTA/GTATTT 1 -- int10--------
    rs3738080921,2
    ----31133459(+) ATGGTC/TTTTGG 6 T syn10--------
    rs3697328701,2
    ----31135168(+) CTATT-/AAAAATA 3 -- int1 us2k10--------
    rs1430974831,2
    ----31133578(+) CTCAA-/AAGCCC
            
    AGCAT
    3 -- cds10--------
    rs1134689801,2
    ----31135723(+) TCACCC/TTTTTT 3 -- int1 us2k10--------
    rs3745444161,2
    ----31135313(+) GACTCC/TGTCTC 3 -- int1 us2k10--------
    rs2003403261,2
    ----31134727(+) CTCATC/TTTTTA 3 -- int1 us2k10--------
    rs3690216241,2
    ----31137602(+) CTAAGA/GTGGGA 1 -- int10--------
    rs581321721,2
    ----31134006(+) CACCCA/CTTCCC 3 -- int1 ut510--------
    rs1129437251,2
    ----31133089(+) TGACAG/AGGGCA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs3747463021,2
    ----31133884(+) CTCCCC/GTTTCC 3 -- int1 ut510--------
    rs3741077721,2
    ----31135732(+) TCTCC-/GCCACC 3 -- int1 us2k10--------
    rs3763428691,2
    ----31136544(+) GAAAAC/TCGGTA 3 -- int1 us2k10--------
    rs349100521,2
    ----31136728(+) CAAGG-/AAAGTG 1 -- int10--------
    rs3706674191,2
    ----31132827(+) AGCAGC/TGGAGG 3 -- int10--------
    rs3742449391,2
    ----31133325(+) TCCCCA/GGGTAT 3 -- int10--------
    rs3740609971,2
    ----31133934(+) GTCTGC/TAGAAG 3 -- int1 ut510--------
    rs3750559891,2
    ----31132694(+) TGAGAC/GGGGCC 3 -- int10--------
    rs624012841,2
    ----31136699(+) AAACAA/GGGCCT 1 -- int10--------
    rs3771228551,2
    ----31135645(+) GCCCAA/GGCTGG 3 -- int1 us2k10--------
    rs358343031,2
    ----31135242(+) ACTTT-/GGGGAG 3 -- int1 us2k10--------
    rs3767280841,2
    ----31137718(+) GCCAG-/GCAG  
            
    AGCAA
    1 -- int10--------
    rs1417490051,2
    ----31138101(+) ACTCCA/TGCTTC 2 A syn11Minor allele frequency- C:0.00NA 4252
    rs3757846681,2
    ----31136622(+) GCAGA-/CTTC  
            
    TTGAA
    1 -- int10--------
    rs3725618461,2
    ----31133688(+) AATCTG/TCAGAG 3 -- int10--------
    rs3676258711,2
    ----31136635(+) ACTGAC/GCCTGG 1 -- int10--------
    rs1116623101,2
    ----31138836(+) GTTAGT/-TTTTT 1 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for POU5F1 (31132114 - 31148508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for POU5F1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731791CNV Deletion23290073
    nsv524061CNV Loss19592680
    nsv525933CNV Loss19592680
    nsv428140CNV Gain+Loss18775914
    esv690CNV CNV17122850
    dgv1919e1CNV Complex17122850
    dgv1918e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): POU5F1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing POU5F1
    DNA2.0 Custom Variant and Variant Library Synthesis for POU5F1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 164177    OMIM disorders: --

    20/63 diseases for POU5F1 (see all 63):    About MalaCards
    central nervous system germinoma    immature teratoma of ovary    sacrococcygeal teratoma    germinoma
    yaws    pineoblastoma    teratoma    malignant germ cell tumor
    mixed germ cell tumor    toxic epidermal necrolysis    germ cell cancer    gonadoblastoma
    teratocarcinoma    dysgerminoma    seminoma    stevens-johnson syndrome
    gonadal dysgenesis    papillary renal cell carcinoma    turner syndrome    werner syndrome

    5 diseases from the University of Copenhagen DISEASES database for POU5F1:
    Teratoma     Gonadoblastoma     Embryonal carcinoma     Seminoma
    Dysgerminoma

    POU5F1 for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for POU5F1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma embryonal 74.8 16 8662786 (2), 15725806 (1), 17314394 (1), 10328600 (1) (see all 13)
    teratoma 73.9 8 18439155 (1), 19826408 (1), 16494961 (1), 12161760 (1) (see all 8)
    pineoblastoma 46.3 1 15725806 (1)
    seminoma 44.6 4 15725806 (1), 17682839 (1), 17117392 (1)
    germinoma 36.7 6 15725806 (4), 17117392 (1)
    teratocarcinoma 33.4 1 8453995 (1)
    tumors 18 38 17205510 (5), 18701476 (3), 16510872 (3), 15513931 (2) (see all 22)
    cancer 17.3 23 17261754 (2), 16229821 (2), 16854382 (2), 18701476 (2) (see all 13)
    ewings sarcoma 16 3 15917470 (2), 20051954 (1), 17564582 (1)
    carcinoma 8.24 3 15342930 (1), 18614581 (1), 19876845 (1)

    Genetic Association Database (GAD): POU5F1
    Human Genome Epidemiology (HuGE) Navigator: POU5F1 (7 documents)

    Export disorders for POU5F1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for POU5F1 gene, integrated from 9 sources (see all 506):
    (articles sorted by number of sources associating them with POU5F1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. (PubMed id 1408763)1, 2, 3, 9 Takeda J.... Bell G.I. (1992)
    2. Pyruvate kinase isozyme type M2 (PKM2) interacts and cooperates with Oct-4 in regulating transcription. (PubMed id 18191611)1, 2, 9 Lee J.... Kim J. (2008)
    3. Oct4 pseudogenes are transcribed in cancers. (PubMed id 16229821)1, 2, 9 Suo G.... Dai J. (2005)
    4. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis. (PubMed id 12653732)1, 4, 9 Chang Y.T....Wong C.K. (2003)
    5. Serine 111 phosphorylation regulates OCT4A protein sub cellular distribution and degradation. (PubMed id 23024368)1, 2 Spelat R....Curcio F. (2012)
    6. Phosphorylation regulates human OCT4. (PubMed id 22474382)1, 2 Brumbaugh J....Thomson J.A. (2012)
    7. Genome-wide association study of Stevens-Johnson Synd rome and Toxic Epidermal Necrolysis in Europe. (PubMed id 21801394)1, 4 GAcnin E....Mockenhaupt M. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
    10. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5460 HGNC: 9221 AceView: POU5F1 Ensembl:ENSG00000204531 euGenes: HUgn5460
    ECgene: POU5F1 H-InvDB: POU5F1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for POU5F1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Oct-4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POU5F1 gene:
    Search GeneIP for patents involving POU5F1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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