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POU1F1 Gene

protein-coding   GIFtS: 58
GCID: GC03M087307

POU Class 1 Homeobox 1

(Previous names: POU domain class 1, transcription factor 1)
(Previous symbol: PIT1)
  See POU1F1-related diseases
at
MalaCards
 

Aliases
for POU1F1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
POU Class 1 Homeobox 11 2     POU1F1a2
PIT11 2 3 5     Pit-12
Growth Hormone Factor 11 2 3     Pituitary-Specific Positive Transcription Factor 12
GHF-12 3     POU Domain, Class 1, Transcription Factor 12
CPHD12 5     GHF13
POU Domain Class 1, Transcription Factor 11     PIT-13

External Ids:    HGNC: 92101   Entrez Gene: 54492   Ensembl: ENSG000000648357   OMIM: 1731105   UniProtKB: P280693   

Export aliases for POU1F1 gene to outside databases

Previous GC identifers: GC03M087883 GC03M090090 GC03M087188 GC03M087229 GC03M087391


Summaries
for POU1F1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POU1F1 Gene:
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The
protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations
in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for POU1F1 Gene:
POU1F1 (POU class 1 homeobox 1) is a protein-coding gene. Diseases associated with POU1F1 include pituitary hormone deficiency, combined 1, and pou1f1-related combined pituitary hormone deficiency. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
Function: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope
phenotypes in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds
to the consensus sequence 5'-TAAAT-3'

Gene Wiki entry for POU1F1 (Pituitary-specific positive transcription factor 1) Gene


Genomic Views
for POU1F1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the POU1F1 gene promoter:
         Pax-5   p53   AP-1   ATF-2   CREB   deltaCREB   c-Jun   Ik-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POU1F1 promoter sequence
   Search Chromatin IP Primers for POU1F1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU1F1


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

Entrez Gene cytogenetic band: 3p11   Ensembl cytogenetic band:  3p11.2   HGNC cytogenetic band: 3p11.2

POU1F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU1F1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M087307:  view genomic region     (about GC identifiers)

Start:
 87,308,554 bp from pter      End:
 87,325,737 bp from pter
Size:
 17,184 bases      Orientation:
 minus strand

Proteins
for POU1F1 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069 (See protein sequence)
Recommended Name: Pituitary-specific positive transcription factor 1  
Size: 291 amino acids; 32912 Da
Sequence caution: Sequence=CAA54440.2; Type=Erroneous gene model prediction;
Secondary accessions: O75757 Q15132 Q15133 Q9UD34 Q9UEL3
Alternative splicing: 2 isoforms:  P28069-1   P28069-2   (Altered in its ability to trans-activate compared to isoform B)

Explore the universe of human proteins at neXtProt for POU1F1: NX_P28069

Explore proteomics data for POU1F1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See POU1F1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000297.1  NP_001116229.1  

    ENSEMBL proteins: 
     ENSP00000263781   ENSP00000342931   ENSP00000454072   ENSP00000452610  

    POU1F1 Human Recombinant Protein Products:

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    Novus Biologicals POU1F1 Proteins
    Novus Biologicals POU1F1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

         		 Search eBioscience for Proteins for POU1F1 

         		antibodies-online proteins for POU1F1 (12 products) 

         		antibodies-online peptides for POU1F1

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    antibodies-online antibodies for POU1F1 (9 products) 

    POU1F1 Assay Products:

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    Search eBioscience for ELISAs for POU1F1 
    antibodies-online kits for POU1F1 (15 products) 

    Domains /
    Families
    for POU1F1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    POU: Homeoboxes / POU class

    Selected InterPro protein domains (see all 7):
     IPR015586 Pit_1
     IPR010982 Lambda_DNA-bd_dom
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P28069

    ProtoNet protein and cluster: P28069

    2 Blocks protein domains:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
    Similarity: Belongs to the POU transcription factor family. Class-1 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    Find genes that share domains with POU1F1           About GenesLikeMe


    Function
    for POU1F1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIT1_HUMAN, P28069
    Function: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope
    phenotypes in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds
    to the consensus sequence 5'-TAAAT-3'

         Genatlas biochemistry entry for POU1F1:
    POU domain,class 1,transcription factor 1,mammalian homeo box backfoot,Drosophila bicoid related,expressed in
    Rathke pouch,at an early stage of pituitary development and in a subset of adult anterior pituitary cells that
    express POMC,binding PITX2,reciprocally interacting with GATA2 for the mediation of signaling gradient-induced
    determination of pituitary cell types

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001102RNA polymerase II activating transcription factor binding IPI12612071
    GO:0001105RNA polymerase II transcription coactivator activity IDA9685346
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
         
    Find genes that share ontologies with POU1F1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for POU1F1:
     Decreased p24 protein expressi 

         10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pou1f1):
     craniofacial  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with POU1F1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for POU1F1

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat POU1F1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate POU1F1:
    hsa-miR-4251
    SwitchGear 3'UTR luciferase reporter plasmid: POU1F1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POU1F1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for POU1F1
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    GenScript: all cDNA clones in your preferred vector (see all 2): POU1F1 (NM_001122757)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU1F1
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    Cell Line
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    In Situ Assay
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    Localization
    for POU1F1 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PIT1_HUMAN, P28069: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with POU1F1           About GenesLikeMe


    Pathways & Interactions
    for POU1F1 gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for POU1F1 About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Glucocorticoid receptor regulatory network
    		Glucocorticoid receptor regulatory network


    1 BioSystems Pathway for POU1F1
        Glucocorticoid receptor regulatory network


        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU1F1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Neurotoxicity in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POU1F1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for POU1F1 (P280692, 3 ENSP000003429314) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS1P149212, 3, ENSP000003764364MINT-14055 I2D: score=1 STRING: ENSP00000376436
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    NR3C1P041503, ENSP000002315094I2D: score=2 STRING: ENSP00000231509
    MED1Q156483, ENSP000003006514I2D: score=1 STRING: ENSP00000300651
    NR1I3Q149943, ENSP000003569594I2D: score=1 STRING: ENSP00000356959
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001708cell fate specification IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS1487156
    GO:0008284positive regulation of cell proliferation IEA--

    Find genes that share ontologies with POU1F1           About GenesLikeMe



    Drugs & Compounds
    for POU1F1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POU1F1 (PIT1)

    Selected Novoseek inferred chemical compound relationships for POU1F1 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptx1 83.5 8 9514159 (2), 10859489 (2), 18079591 (1), 11027489 (1) (see all 5)
    acth 59.9 17 8890999 (3), 8739890 (3), 8949563 (2), 12780757 (1) (see all 10)
    forskolin 43 18 8625901 (4), 7961740 (3), 16879162 (1), 1584227 (1) (see all 5)
    bromocriptine 42.6 2 7621575 (1), 9207961 (1)
    ribonucleic acid 40.1 7 7608249 (2), 8869065 (2), 8733768 (1), 8784102 (1) (see all 5)
    cyclic amp 33.7 21 8645191 (4), 8625901 (2), 9751061 (2), 8524234 (2) (see all 7)
    estrogen 20.9 18 15221415 (3), 2379827 (2), 8733768 (1), 8424109 (1) (see all 12)
    dopamine 13.1 9 7706253 (3), 1835974 (3), 9167960 (1), 10449917 (1)
    okadaic acid 12.8 6 9717847 (3), 8232316 (1), 11266513 (1)
    arginine 12 4 9588494 (1), 12773133 (1), 9829213 (1)



    Find genes that share compounds with POU1F1           About GenesLikeMe



    Transcripts
    for POU1F1 gene

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for POU1F1 gene (2 alternative transcripts): 
    NM_000306.3  NM_001122757.2  

    Unigene Cluster for POU1F1:

    POU class 1 homeobox 1
    Hs.591654  [show with all ESTs]
    Unigene Representative Sequence: NM_001122757
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000350375(uc010hoj.1 uc003dqq.1) ENST00000344265 ENST00000561167
    ENST00000560656
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate POU1F1:
    hsa-miR-4251
    SwitchGear 3'UTR luciferase reporter plasmid: POU1F1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): POU1F1 (NM_001122757)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat POU1F1

    Additional mRNA sequence: 

    D10216.1 L18781.1 X62429.1 X72215.1 

    2 DOTS entries:

    DT.206672  DT.91910385 

    8 AceView cDNA sequences:

    NM_000306 D10216 L18781 X72215 CD242816 CD237360 X62429 AV747622 

    GeneLoc Exon Structure


    Expression
    for POU1F1 gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POU1F1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAACTGAAA
    POU1F1 Expression
    About this image

    POU1F1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    POU1F1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591654
        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU1F1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Neurotoxicity in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU1F1

    Orthologs
    for POU1F1 gene

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for POU1F1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pou1f11 , 5 POU domain, class 1, transcription factor 11, 5 87.74(n)1
    95.53(a)1    		   16 (37.25 cM)5
    187361  NM_008849.41  NP_032875.11 
     655205125 
    chicken
    (Gallus gallus)    		 Aves POU1F11 POU class 1 homeobox 1 78.4(n)
    86.67(a)    		   374215  NM_204319.1  NP_989650.1 
    lizard
    (Anolis carolinensis)    		 Reptilia POU1F16
    		 POU class 1 homeobox 1
    		 71(a)
    		 1 ↔ 1
    		 3(161399902-161417222)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia pou1f11 POU class 1 homeobox 1 74.87(n)
    78.86(a)    		   100492413  XM_002931760.2  XP_002931806.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pou1f11 POU domain, class 1, transcription factor 1 66.45(n)
    71.85(a)    		   405777  NM_212851.1  NP_998016.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-66
    		 Protein CEH-6 (ceh-6) mRNA, complete cds
    		 29(a)
    		 1 ↔ 1
    		 I(8498114-8502412) WBGene00000431


    ENSEMBL Gene Tree for POU1F1 (if available)
    TreeFam Gene Tree for POU1F1 (if available)

    Paralogs
    for POU1F1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POU1F1 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU3F42  POU3F32  POU4F32  
    POU3F22  POU2F22  POU5F1B2  POU4F12  POU2F12  POU6F12  POU5F12  
    Selected SIMAP similar genes for POU1F1 using alignment to 3 protein entries:     PIT1_HUMAN (see all proteins) (see all similar genes):
    OCT6    POU6F1    POU5F1P4    POU3F1    POU3F4    POU4F1
    OCT-2    POU3F3    POU5F1    POU2F1    POU2F2    POU5F1P1
    POU3F2    POU2F3    POU5F1B    POU4F2    POU4F3    NKX2-5

    Find genes that share paralogs with POU1F1           About GenesLikeMe



    Genomic Variants
    for POU1F1 gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POU1F1 (see all 468)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0037784
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0037782 R Q mis40--------
    VAR_0634254
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0634252 R Q mis40--------
    VAR_0105744
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0105742 F C mis40--------
    VAR_0152604
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0152602 W R mis40--------
    VAR_0037774
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0037772 P L mis40--------
    VAR_0105764
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0105762 P S mis40--------
    VAR_0037814
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0037812 R W mis40--------
    VAR_0634274
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0634272 E K mis40--------
    VAR_0105754
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0105752 E G mis40--------
    VAR_0037794
    		Pituitary hormone deficiency, combined, 1 (CPHD1)4--see VAR_0037792 A P mis40--------

    HapMap Linkage Disequilibrium report for POU1F1 (87308554 - 87325737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for POU1F1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877133CNV Loss21882294
    nsv877134CNV Loss21882294
    nsv877135CNV Loss21882294
    nsv877132CNV Loss21882294
    nsv470749CNV Loss18288195
    nsv527279CNV Gain19592680
    nsv877136CNV Gain21882294

    Human Gene Mutation Database (HGMD): POU1F1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POU1F1
    DNA2.0 Custom Variant and Variant Library Synthesis for POU1F1

    Disorders / Diseases
    for POU1F1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 173110   
    OMIM disorders: 613038  
    UniProtKB/Swiss-Prot: PIT1_HUMAN, P28069
  • Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]: Combined pituitary hormone deficiency is
    defined as the impaired production of growth hormone and one or more of the other five anterior pituitary
    hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating
    hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating
    hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with
    prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with
    anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with
    severe mental retardation along with short stature. Note=The disease is caused by mutations affecting the gene
    represented in this entry

    • 18 diseases for POU1F1:    
    About MalaCards
    pituitary hormone deficiency, combined 1    pou1f1-related combined pituitary hormone deficiency    combined pituitary hormone deficiency    pituitary hypoplasia
    septo-optic dysplasia    axenfeld-rieger syndrome    pancreatic islet cell tumors    hypothyroidism due to deficient transcription factors involved in pituitary development or function
    prolactinoma    acth deficiency    isolated growth hormone deficiency    pituitary tumors
    hypopituitarism    blastoma    dwarfism    growth hormone deficiency
    borjeson-forssman-lehmann syndrome    hypothyroidism

    4 inferred disease relationships from the University of Copenhagen DISEASES database for POU1F1:
    Hypopituitarism     Pituitary hypoplasia     Holoprosencephaly     Hypothyroidism

    Find genes that share disorders with POU1F1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for POU1F1 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 95.5 73 9632165 (2), 16263824 (2), 1472057 (2), 10698595 (2) (see all 56)
    tsh deficiency 91.6 14 9632165 (3), 16735499 (2), 18174732 (2), 9626142 (1) (see all 10)
    septo-optic dysplasia 85.1 1 15670191 (1)
    hormone deficiency 83.9 10 7920987 (2), 15844473 (1), 11222742 (1), 19407506 (1) (see all 9)
    pituitary adenoma 80.8 58 8834538 (4), 8148036 (4), 8246449 (3), 11081207 (3) (see all 26)
    hypopituitarism 79.4 9 1509263 (2), 18157385 (1), 10549299 (1), 9686002 (1) (see all 7)
    dwarfism pituitary 74 1 7920987 (1)
    acth deficiency 70.5 3 12780757 (1), 17162714 (1), 15928241 (1)
    pituitary tumors 70.2 10 11081157 (2), 16189248 (2), 8027225 (1), 10404841 (1) (see all 6)
    prolactin deficiency 67.8 1 9627600 (1)

    Genetic Association Database (GAD): POU1F1
    Human Genome Epidemiology (HuGE) Navigator: POU1F1 (14 documents)

    Export disorders for POU1F1 gene to outside databases

    Publications
    for POU1F1 gene

    (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

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    PubMed articles for POU1F1 gene, integrated from 10 sources (see all 358):
    (articles sorted by number of sources associating them with POU1F1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (PubMed id 15928241)1, 2, 4, 9 Turton J.P.G.... Dattani M.T. (J. Clin. Endocrinol. Metab. 2005)
    2. Cloning of the human cDNA for transcription factor Pit-1. (PubMed id 1956794)1, 2, 3 Lew A.M. and Elsholtz H.P. (Nucleic Acids Res. 1991)
    3. Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. (PubMed id 16505001)1, 4, 9 Sun Y....He L. (Hum. Mol. Genet. 2006)
    4. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. (PubMed id 9485179)1, 2, 9 Brown M.R.... Hurley D.L. (Horm. Res. 1998)
    5. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. (PubMed id 1472057)1, 2, 9 Ohta K.... Matsuda I. (Biochem. Biophys. Res. Commun. 1992)
    6. Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study. (PubMed id 16214911)1, 4, 9 Canzian F....Kaaks R. (amp 2005)
    7. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the PIT1/POU1F1 gene. (PubMed id 11297581)1, 2, 9 Hendriks-Stegeman B.I.... Jansen M. (J. Clin. Endocrinol. Metab. 2001)
    8. Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. (PubMed id 9626142)1, 2, 9 Pernasetti F.M.... Martial J.A. (J. Clin. Endocrinol. Metab. 1998)
    9. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. (PubMed id 8768831)1, 2, 9 Pellegrini-Bouiller I.... Enjalbert A. (J. Clin. Endocrinol. Metab. 1996)
    10. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. (PubMed id 1509262)1, 2, 9 Radovick S....Wondisford F.E. (Science 1992)

    External Searches for POU1F1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing POU1F1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5449 HGNC: 9210 AceView: POU1F1 Ensembl:ENSG00000064835 euGenes: HUgn5449
    ECgene: POU1F1 H-InvDB: POU1F1

    Other Databases showing POU1F1 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing POU1F1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for POU1F1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POU1F1[genesymbol]

    Intellectual Property
    for POU1F1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for POU1F1 gene:
    Search GeneIP for patents involving POU1F1

    GeneCards and IP:
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