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    POU5F1 POU class 5 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5460, updated on 19-May-2013
    Official Symbol
    POU5F1provided by HGNC
    Official Full Name
    POU class 5 homeobox 1provided by HGNC
    Primary source
    HGNC:9221
    Locus tag
    DADB-104B20.2
    See related
    Ensembl:ENSG00000204531; HPRD:01252; MIM:164177; Vega:OTTHUMG00000031206
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OCT3; OCT4; OTF3; OTF4; OTF-3; Oct-3; Oct-4
    Summary
    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]
    Location :
    6p21.31
    Sequence :
    Chromosome: 6; NC_000006.11 (31132114..31138451, complement)
    See POU5F1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene transcription factor 19 Neighboring gene psoriasis susceptibility 1 candidate 3 (non-protein coding) Neighboring gene uncharacterized LOC100996357 Neighboring gene HLA complex group 27 (non-protein coding)

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    Q01860 P10275 AR    HPRD  PubMed  
    Q01860 P15036 ETS2    HPRD  PubMed  
    Q01860 Q01844 EWSR1    HPRD  PubMed  
    Q01860 Q9UJU5 FOXD3    HPRD  PubMed  
    Q01860 P09429 HMGB1    HPRD  PubMed  
    Q01860 P26583 HMGB2    HPRD  PubMed  
    Q01860 P51948 MNAT1    HPRD  PubMed  
    Q01860 P56693 SOX10    HPRD  PubMed  
    Q01860 P48431 SOX2    HPRD  PubMed  
    Q01860 P57073 SOX8    HPRD  PubMed  
    BioGRID:111456 BioGRID:106573 ACTA1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:106586 ACTG1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:115802 AGR2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:107276 CAPNS1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:107496 CETN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:108237 EEF1A1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:108258 EEF2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:116123 EHMT2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:115024 EIF5B    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:108446 EZH2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:119666 FKBP7    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:117959 FOXD3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111456 BioGRID:108868 GAPDH    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:109265 HIST1H1T    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:109389 HMGB1    BioGRID  PubMed Affinity Capture-RNA; Affinity Capture-Western 
    BioGRID:111456 BioGRID:109391 HMGB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:109431 HNRNPK    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:123747 ITCH    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:111456 BioGRID:110046 KRT1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110056 KRT10    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110059 KRT14    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110078 KRT19    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110047 KRT2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110055 KRT9    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:110474 MNAT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111456 BioGRID:110771 NCL    BioGRID  PubMed Affinity Capture-Luminescence; Affinity Capture-RNA 
    BioGRID:111456 BioGRID:106695 NR0B1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111456 BioGRID:112884 NR2F2    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:111456 POU5F1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:111474 PPIA    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:111688 PSMD10    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:111772 PURA    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:111773 PURB    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:111824 RAD23B    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:111456 BioGRID:111972 RNF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:112066 RPL22    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112071 RPL24    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112078 RPL29    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112075 RPL30    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112079 RPL31    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112137 RPS19    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112142 RPS23    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:112144 RPS25    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:121420 SALL4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:115202 SETDB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:112540 SOX2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111456 BioGRID:112326 SRSF3    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:112332 TRA2B    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:115457 TRIM28    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:113603 TUBA1A    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:115655 TUBB4A    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111456 BioGRID:116272 WDR5    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:111456 BioGRID:116244 WWP2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:111456 BioGRID:113345 XPC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111456 BioGRID:110959 YBX1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:111456 BioGRID:113496 ZNF143    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:111456 BioGRID:117074 ZNF281    BioGRID  PubMed Affinity Capture-Western 

    Markers

    Homology

    Clone Names

    • MGC22487

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
     
    sequence-specific DNA binding RNA polymerase II transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway involved in heart induction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    blastocyst development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac cell fate determination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell fate commitment involved in formation of primary germ layer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endodermal cell fate specification IDA
    Inferred from Direct Assay
    more info
     
    mRNA transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of gene silencing by miRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of catenin import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of asymmetric cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart induction by regulation of canonical Wnt receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of methylation-dependent chromatin silencing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to wounding IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    somatic stem cell maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    somatic stem cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    POU domain, class 5, transcription factor 1
    Names
    POU domain, class 5, transcription factor 1
    octamer-binding protein 3
    octamer-binding protein 4
    POU domain transcription factor OCT4
    octamer-binding transcription factor 3
    octamer-binding transcription factor-3
    POU-type homeodomain-containing DNA-binding protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001173531.1NP_001167002.1  POU domain, class 5, transcription factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream non-AUG (CUG) start codon, compared to variant 1. The resulting isoform (2, also known as OCT4B-190) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform. The predominant use of the non-AUG (CUG) start codon is described in PMID:19489092. This variant may also encode an additional shorter isoform through the use of an alternative downstream AUG start codon.
      Source sequence(s)
      AI811039, DQ486515, DQ486516
      Consensus CDS
      CCDS47398.1
      Related
      ENSP00000425479, OTTHUMP00000221150, ENST00000512818, OTTHUMT00000367030
      Conserved Domains (2) summary
      cd00086
      Location:61119
      Blast Score: 153
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      cl02582
      Location:142
      Blast Score: 224
      Pou; Pou domain - N-terminal to homeobox domain
    2. NM_002701.4NP_002692.2  POU domain, class 5, transcription factor 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as OCT4A).
      Source sequence(s)
      AI811039, BC117435, DQ486517
      Consensus CDS
      CCDS34391.1
      UniProtKB/TrEMBL
      D2IYK3
      UniProtKB/Swiss-Prot
      Q01860
      Conserved Domains (2) summary
      cd00086
      Location:231289
      Blast Score: 159
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      smart00352
      Location:138212
      Blast Score: 361
      POU; Found in Pit-Oct-Unc transcription factors
    3. NM_203289.4NP_976034.4  POU domain, class 5, transcription factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream non-AUG (CUG) start codon, compared to variant 1. The resulting isoform (2, also known as OCT4B-190) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform. The predominant use of the non-AUG (CUG) start codon is described in PMID:19489092. This variant may also encode additional isoforms through the use of an alternative downstream AUG start codon, as well as an alternative upstream AUG start codon, which is polymorphic (AGG in this RefSeq and in the GRCh37 primary assembly, and AUG in all other assemblies, see dbSNP:3130932), as described in PMID:1408763.
      Source sequence(s)
      AI811039, DQ486515
      Consensus CDS
      CCDS47398.1
      Related
      ENSP00000425083, OTTHUMP00000221151, ENST00000471529, OTTHUMT00000076414
      Conserved Domains (2) summary
      cd00086
      Location:61119
      Blast Score: 153
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      cl02582
      Location:142
      Blast Score: 224
      Pou; Pou domain - N-terminal to homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p10 ALT_REF_LOCI_2

      Range
      2646867..2653222, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p10 ALT_REF_LOCI_3

      Range
      2429238..2435593, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p10 ALT_REF_LOCI_4

      Range
      2480458..2486814, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p10 ALT_REF_LOCI_5

      Range
      2514037..2520393, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p10 ALT_REF_LOCI_6

      Range
      2427966..2434320, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p10 ALT_REF_LOCI_7

      Range
      2467051..2473404, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      31132114..31138451, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      30934532..30940887, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      31049039..31055376, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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