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PUM1 Gene

protein-coding   GIFtS: 63
GCID: GC01M031405

Pumilio RNA-Binding Family Member 1

(Previous names: pumilio (Drosophila) homolog 1, pumilio homolog 1 (Drosophila))
  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)
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Aliases
Pumilio RNA-Binding Family Member 11 2     PUMH2
PUMH12 3     PUML12
KIAA00993 5     Pumilio Homolog 12
Pumilio (Drosophila) Homolog 11     pumilio-12
Pumilio Homolog 1 (Drosophila)1     HsPUM3
HSPUM2     Pumilio-13

External Ids:    HGNC: 149571   Entrez Gene: 96982   Ensembl: ENSG000001346447   OMIM: 6072045   UniProtKB: Q146713   

Export aliases for PUM1 gene to outside databases

Previous GC identifers: GC01M031198 GC01M030388 GC01M030830 GC01M030906 GC01M031073 GC01M031176 GC01M029510


(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 PUM1 Gene:
This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio
proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a
sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and
serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The
evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the
human protein may be involved in translational regulation of embryogenesis, and cell development and
differentiation. Alternatively spliced transcript variants encoding different isoforms have been described.
(provided by RefSeq, Jul 2008)

GeneCards Summary for PUM1 Gene:
PUM1 (pumilio RNA-binding family member 1) is a protein-coding gene. Diseases associated with PUM1 include intermediate charcot-marie-tooth neuropathy, and neuropathy. GO annotations related to this gene include RNA binding. An important paralog of this gene is PUM2.

UniProtKB/Swiss-Prot: PUM1_HUMAN, Q14671
Function: Sequence-specific RNA-binding protein that negatively regulates translation and mRNA stability by
binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE),
5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE). Capable of deadenylation-dependent and
-independent modes of repression. May be required to support proliferation and self-renewal of stem cells

Gene Wiki entry for PUM1 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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PUM1 gene promoter:
         E2F-3a   E2F-4   Oct-B1   E2F-5   oct-B2   HOXA3   E2F-2   CUTL1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPUM1 promoter sequence
   Search Chromatin IP Primers for PUM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PUM1


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

Entrez Gene cytogenetic band: 1p35.2   Ensembl cytogenetic band:  1p35.2   HGNC cytogenetic band: 1p35.2

PUM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PUM1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M031405:  view genomic region     (about GC identifiers)

Start:
31,404,353 bp from pter      End:
31,538,838 bp from pter
Size:
134,486 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PUM1_HUMAN, Q14671 (See protein sequence)
Recommended Name: Pumilio homolog 1  
Size: 1186 amino acids; 126473 Da
Subunit: Recruits the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation
Sequence caution: Sequence=BAA07895.3; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for PUM1 (see all 13):
1IB2 (3D)        1M8W (3D)        1M8X (3D)        1M8Y (3D)        1M8Z (3D)        2YJY (3D)    
Secondary accessions: A8K6W4 B4DG92 D3DPN3 E9PCJ0 Q53HH5 Q5VXY7 Q9HAN1
Alternative splicing: 4 isoforms:  Q14671-1   Q14671-2   Q14671-3   Q14671-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PUM1: NX_Q14671

Explore proteomics data for PUM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys718, Lys794, Lys1084
  • Modification sites at PhosphoSitePlus

  • See PUM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018494.1  NP_055491.1  

    ENSEMBL proteins: 
     ENSP00000400141   ENSP00000257075   ENSP00000362852   ENSP00000435825   ENSP00000391723  
     ENSP00000433850   ENSP00000401777   ENSP00000362846   ENSP00000362847   ENSP00000434096  
     ENSP00000431213   ENSP00000433373   ENSP00000431779   ENSP00000435589   ENSP00000436921  
     ENSP00000433099   ENSP00000437269   ENSP00000431470   ENSP00000399440  
    Reactome Protein details: Q14671

    PUM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for PUM1
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    OriGene MassSpec for PUM1
    OriGene Custom Protein Services for PUM1
    GenScript Custom Purified and Recombinant Proteins Services for PUM1
    Novus Biologicals PUM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PUM1

    PUM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PUM1
    R&D Systems Antibodies for PUM1
    Cell Signaling Technology (CST) Antibodies for PUM1  (pumilio 1)
    OriGene Antibodies for PUM1
    OriGene Custom Antibody Services for PUM1
    Novus Biologicals PUM1 Antibodies
    Abcam antibodies for PUM1
    Cloud-Clone Corp. Antibodies for PUM1
    ThermoFisher Antibody for PUM1
    LSBio Antibodies in human, mouse, rat for PUM1

    PUM1 Assay Products:

    EMD Millipore Kits and Assays for the Analysis of PUM1
    OriGene Custom Assay Services for PUM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PUM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PUM1
    Cloud-Clone Corp. CLIAs for PUM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR001313 Pumilio_RNA-bd_rpt
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q14671

    ProtoNet protein and cluster: Q14671

    UniProtKB/Swiss-Prot: PUM1_HUMAN, Q14671
    Domain: The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix
    that approximates a half doughnut. RNA-binding occurs on the concave side of the surface (PubMed:21397187)
    Similarity: Contains 1 PUM-HD domain
    Similarity: Contains 8 pumilio repeats


    PUM1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUM1_HUMAN, Q14671
    Function: Sequence-specific RNA-binding protein that negatively regulates translation and mRNA stability by
    binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE),
    5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE). Capable of deadenylation-dependent and
    -independent modes of repression. May be required to support proliferation and self-renewal of stem cells
    Induction: Strongly down-regulated in keratinocytes upon UVB irradiation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005488binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    PUM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PUM1:
     Decreased homologous recombina 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pum1):
     cellular  endocrine/exocrine gland  growth/size/body  no phenotypic analysis  reproductive system 

    PUM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pum1tm1.2Hfl for PUM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PUM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PUM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PUM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PUM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PUM1:
    hsa-mir-324-3p (MIRT042968), hsa-mir-16-5p (MIRT031662), hsa-mir-423-3p (MIRT016684), hsa-mir-181a-5p (MIRT025121), hsa-mir-324-5p (MIRT043018), hsa-mir-296-3p (MIRT038400), hsa-mir-99a-5p (MIRT048648), hsa-mir-186-5p (MIRT045010), hsa-mir-151a-3p (MIRT019509), hsa-let-7b-5p (MIRT032335)

    Block miRNA regulation of human, mouse, rat PUM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PUM1 (see all 48):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-607 hsa-miR-4272 hsa-miR-411 hsa-miR-624 hsa-miR-218 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidPUM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PUM1
    Predesigned siRNA for gene silencing in human, mouse, rat PUM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PUM1

    Clone
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    OriGene clones in human, mouse for PUM1 (see all 12)
    OriGene ORF clones in mouse, rat for PUM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PUM1 (NM_014676)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PUM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUM1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PUM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PUM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUM1


    (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
    PUM1_HUMAN, Q14671: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PUM1 for ontologies           About GeneDecksing


    (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 PUM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PUM1
        Translational Control

    1 Reactome Pathway for PUM1
        Golgi Associated Vesicle Biogenesis



    PUM1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PUM1
    Interactions:

        Search GeneGlobe Interaction Network for PUM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PUM1 (Q146712, 3 ENSP000003917234) via UniProtKB, MINT, STRING, and/or I2D (see all 752)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2867216 I2D: score=3 STRING: ENSP00000244769
    SMAD1Q157972, 3MINT-62014 I2D: score=3 
    AP1B1Q105672, ENSP000003501994MINT-7947479 STRING: ENSP00000350199
    HSPA8P111422, ENSP000002273784MINT-7947479 STRING: ENSP00000227378
    DDX6P261962, ENSP000002640184MINT-7947479 STRING: ENSP00000264018
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0061024membrane organization TAS--

    PUM1 for ontologies           About GeneDecksing



    (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 PUM1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PUM1 gene (2 alternative transcripts): 
    NM_001020658.1  NM_014676.2  

    Unigene Cluster for PUM1:

    Pumilio homolog 1 (Drosophila)
    Hs.281707  [show with all ESTs]
    Unigene Representative Sequence: NM_001020658
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000424085 ENST00000257075 ENST00000373747(uc001bsf.1 uc001bsh.1 uc001bsi.1 uc001bsj.1 uc010oga.1 uc001bsk.1 uc010ogb.1)
    ENST00000525843 ENST00000426105 ENST00000498419 ENST00000440538 ENST00000373741
    ENST00000373742 ENST00000530669 ENST00000529846 ENST00000525997 ENST00000527498
    ENST00000498627 ENST00000471894 ENST00000490546 ENST00000532678 ENST00000526128

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PUM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PUM1 (see all 48):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-607 hsa-miR-4272 hsa-miR-411 hsa-miR-624 hsa-miR-218 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidPUM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PUM1
    Predesigned siRNA for gene silencing in human, mouse, rat PUM1
    Clone
    Products:
         
    OriGene clones in human, mouse for PUM1 (see all 12)
    OriGene ORF clones in mouse, rat for PUM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PUM1 (NM_014676)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PUM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PUM1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PUM1
    OriGene qSTAR qPCR primer pairs in human, mouse for PUM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PUM1
      QuantiTect SYBR Green Assays in human, mouse, rat PUM1
      QuantiFast Probe-based Assays in human, mouse, rat PUM1

    Additional mRNA sequence: 

    AF315592.1 AK056662.1 AK096476.1 AK222605.1 AK291779.1 AK294477.1 AK300457.1 BC013398.2 
    BX647437.1 D43951.2 GQ334687.1 GQ334688.1 

    Selected DOTS entries (see all 31):

    DT.92443964  DT.95075436  DT.101966581  DT.99995975  DT.97797167  DT.419011  DT.92443965  DT.95080898 
    DT.100804866  DT.100037415  DT.121403163  DT.121403396  DT.95080892  DT.100804870  DT.121403390  DT.95202549 
    DT.100799378  DT.121403333  DT.87017172  DT.100037416  DT.101966445  DT.102836834  DT.121403177  DT.121403240 

    Selected AceView cDNA sequences (see all 493):

    AI446077 CA396777 AA831866 AF315592 BP364785 AA292712 D43951 CR623394 
    AW002495 AL043698 BF509966 C04873 F06155 AL699026 AA614442 AI754081 
    AU145736 R56323 BM696091 AA678399 AI990483 R99049 BP342823 AI884789 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PUM1 (see all 28)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
    SP1:                          -     -     -                                         -                 -                                                     -   
    SP2:                                                                                -                 -                                                     -   
    SP3:                                                                                -                 -                                                     -   
    SP4:                                                                                -                 -                                                     -   
    SP5:                                                                          -     -     -     -     -     -     -     -     -     -     -     -           -   

    ExUns: 13a · 13b ^ 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^
    SP1:              -                       -                       -                 -                                                                           
    SP2:              -                       -                       -                 -                                                                           
    SP3:              -                       -                       -                 -                                                                           
    SP4:              -                       -                       -                 -     -                                                                     
    SP5:              -                       -                       -                 -                                                                           

    ExUns: 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28 ^ 29
    SP1:                          -                     
    SP2:                          -                     
    SP3:                          -                     
    SP4:                          -                     
    SP5:                          -                     


    ECgene alternative splicing isoforms for PUM1

    (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)
    About This Section

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    PUM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAACTTT
    PUM1 Expression
    About this image

    PUM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PUM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.281707

    UniProtKB/Swiss-Prot: PUM1_HUMAN, Q14671
    Tissue specificity: Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum,
    corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues
    tested

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    (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 eukaryotes.

    Orthologs for PUM1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pum11 , 5 pumilio 1 (Drosophila)1, 5 93.91(n)1
    98.99(a)1
      4 (63.43 cM)5
    809121  NM_001159604.11  NP_001153076.11 
     1306633215 
    chicken
    (Gallus gallus)
    Aves PUM11 pumilio homolog 1 (Drosophila) 84.83(n)
    96.35(a)
      419554  NM_001012840.2  NP_001012858.1 
    lizard
    (Anolis carolinensis)
    Reptilia PUM16
    pumilio RNA-binding family member 1
    94(a)
    1 ↔ 1
    GL343563.1(121122-150712)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB091091.12   -- 77.5(n)    AB091091.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636712 similar to pumilio homolog 1 (Drosophila) 78.49(n)   394176  BC055197.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pum3 head involution protein binding 78(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea puf-93 pumilo repeats 58(a)
    (best of 2)
      X(5876886-5880071)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUF36
    Protein of the mitochondrial outer surface, links ...
    30(a)
    1 → many
    XII(122075-124714) YLL013C
    soybean
    (Glycine max)
    eudicotyledons BU578057.12   -- 77.58(n)    BU578057.1 
    rice
    (Oryza sativa)
    Liliopsida AK064999.12   -- 79.78(n)    AK064999.1 


    ENSEMBL Gene Tree for PUM1 (if available)
    TreeFam Gene Tree for PUM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PUM1 gene
    PUM22  
    1 SIMAP similar gene for PUM1 using alignment to 15 protein entries:     PUM1_HUMAN (see all proteins):
    PUM2

    PUM1 for paralogs           About GeneDecksing



    (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 PUM1 (see all 2519)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744561451,2
    C,F--31403891(+) ACAATT/GGTGAG 2 -- ds50011Minor allele frequency- G:0.04EA 120
    rs1449000191,2
    --31404040(+) AACGCA/GGAGGA 2 -- ds50010--------
    rs1168851771,2
    C,F--31404063(+) ACAGAC/TGGTGC 2 -- ds50011Minor allele frequency- T:0.04EA 120
    rs1865695791,2
    --31404230(+) TTGGCA/GCCTCT 2 -- ds50010--------
    rs562146011,2
    C,F--31404237(+) CTCTCC/GTCCCA 2 -- ds50012Minor allele frequency- G:0.11WA 120
    rs1913310681,2
    --31404295(+) GGCTGC/TCCTGG 2 -- ds50010--------
    rs1846347761,2
    --31404634(+) TCATCC/TTCTGT 2 -- ut310--------
    rs1491074861,2
    --31405112(+) CAAAAC/GTATGT 2 -- ut310--------
    rs2021156281,2
    C--31405250(+) GTTGG-/TTTTTT 2 -- ut310--------
    rs1153456881,2
    F--31405291(+) TTTCAA/GTGTTA 2 -- ut311Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for PUM1 (31404353 - 31538838 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PUM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661973CNV Deletion23128226
    esv2746297CNV Deletion23290073
    nsv506925CNV Insertion20534489
    nsv7701CNV Insertion18451855
    nsv470707CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607204    OMIM disorders: --

    4 diseases for PUM1:    
    About MalaCards
    intermediate charcot-marie-tooth neuropathy    neuropathy    ataxia    squamous cell carcinoma


    PUM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PUM1
    Human Genome Epidemiology (HuGE) Navigator: PUM1 (1 document)

    Export disorders for PUM1 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)
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    PubMed articles for PUM1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with PUM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Modular recognition of RNA by a human pumilio-homology domain. (PubMed id 12202039)1, 2, 9 Wang X.... Hall T.M.T. (Cell 2002)
    2. Alternate modes of cognate RNA recognition by human PUMILIO proteins. (PubMed id 21397187)1, 2 Lu G. and Hall T.M. (Structure 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Genome-wide comparison of human keratinocyte and squamous cell carcinoma responses to UVB irradiation: implications for skin and epithelial cancer. (PubMed id 12771951)1, 2 Dazard J.-E.... Givol D. (Oncogene 2003)
    9. Cloning and comparative sequence analysis of PUM1 and PUM2 genes, human members of the Pumilio family of RNA-binding proteins. (PubMed id 12459267)1, 2 Spassov D.S. and Jurecic R. (Gene 2002)
    10. Crystal structure of a Pumilio homology domain. (PubMed id 11336708)1, 2 Wang X.... Hall T.M.T. (Mol. Cell 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 9698 HGNC: 14957 AceView: PUM1andFLJ12650 Ensembl:ENSG00000134644 euGenes: HUgn9698
    ECgene: PUM1 H-InvDB: PUM1

    (According to HUGE)
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    HUGE: KIAA0099

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PUM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PUM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PUM1 gene:
    Search GeneIP for patents involving PUM1

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



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