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

    Gene ID: 5460, updated on 26-Jul-2015
    Official Symbol
    POU5F1provided by HGNC
    Official Full Name
    POU class 5 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:9221
    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 that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
    Orthologs
    See POU5F1 in Epigenomics, MapViewer
    Location:
    6p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (31164337..31170693, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31132114..31138451, complement)

    Chromosome 6 - NC_000006.12Genomic 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 HLA complex group 27 (non-protein coding)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
    NHGRI GWA Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    NHGRI GWA Catalog
    Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC22487

    Gene Ontology Provided by GOA

    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
    PubMed 
    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 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    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 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-templated 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 
    somatic stem cell maintenance TAS
    Traceable Author Statement
    more info
     
    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
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    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 class 5 homeobox 1 transcript variant OCT4B1
    POU domain class 5 transcription factor 1
    POU domain transcription factor OCT4
    POU-type homeodomain-containing DNA-binding protein
    octamer-binding protein 3
    octamer-binding protein 4
    octamer-binding transcription factor 3

    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_001173531.2NP_001167002.1  POU domain, class 5, transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001167002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame 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. Variants 2 and 3 encode the same isoform (2). This variant may encode an additional isoform through the use of an alternative downstream AUG start codon. Use of alternate start codons and the non-AUG start codon is described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515, DQ486516
      Consensus CDS
      CCDS47398.2
      UniProtKB/TrEMBL
      M1S623
      Related
      ENSP00000484778, ENST00000620031
      Conserved Domains (2) summary
      cd00086
      Location:61119
      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.
      cl22952
      Location:142
      Pou; Pou domain - N-terminal to homeobox domain
    2. NM_001285986.1NP_001272915.1  POU domain, class 5, transcription factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001272915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as OCT4B1) contains multiple differences in the 5' UTR and the 5' coding region, compared to variant 1, and initiates translation at a downstream in-frame AUG start codon. The resulting isoform (4, also known as OCT4B-164) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI811039, DQ486514, DQ486515
      Consensus CDS
      CCDS75420.1
      UniProtKB/TrEMBL
      F2Z381
      Related
      ENSP00000475512, OTTHUMP00000273387, ENST00000513407, OTTHUMT00000367029
      Conserved Domains (2) summary
      cd00086
      Location:3593
      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.
      cl22952
      Location:116
      Pou; Pou domain - N-terminal to homeobox domain
    3. NM_001285987.1NP_001272916.1  POU domain, class 5, transcription factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001272916.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as OCT4B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate AUG start codon, compared to variant 1. The resulting isoform (3, also known as OCT4B-265) is shorter and has a distinct N-terminus, compared to isoform 1. This variant represents an allele of variant 2 that contains an AUG start codon that is polymorphic in human populations (see rs3130932). This variant may encode additional isoforms through the use of alternative downstream AUG and non-AUG start codons, as described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515, Z11899
      UniProtKB/Swiss-Prot
      Q01860
      Conserved Domains (2) summary
      smart00352
      Location:43117
      POU; Found in Pit-Oct-Unc transcription factors
      cd00086
      Location:136194
      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.
    4. NM_002701.5NP_002692.2  POU domain, class 5, transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_002692.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as OCT4A) represents the shortest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI811039, BC117435, CD247724, DQ486517
      Consensus CDS
      CCDS34391.1
      UniProtKB/TrEMBL
      D2IYK3
      UniProtKB/Swiss-Prot
      Q01860
      Related
      ENSP00000259915, OTTHUMP00000029292, ENST00000259915, OTTHUMT00000076413
      Conserved Domains (2) summary
      smart00352
      Location:138212
      POU; Found in Pit-Oct-Unc transcription factors
      cd00086
      Location:231289
      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.
    5. NM_203289.5NP_976034.4  POU domain, class 5, transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_976034.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as OCT4B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame 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. Variants 2 and 3 encode the same isoform (2). This variant may 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 in human populations (AGG allele represented in this RefSeq; see rs3130932). Use of alternate start codons and the non-AUG start codon is described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515
      Consensus CDS
      CCDS47398.2
      UniProtKB/TrEMBL
      M1S623
      Related
      ENSP00000425083, OTTHUMP00000221151, ENST00000471529, OTTHUMT00000076414
      Conserved Domains (2) summary
      cd00086
      Location:61119
      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.
      cl22952
      Location:142
      Pou; Pou domain - N-terminal to homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      31164337..31170693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p2 ALT_REF_LOCI_2

      Range
      2646761..2653135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p2 ALT_REF_LOCI_3

      Range
      2423653..2430027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p2 ALT_REF_LOCI_4

      Range
      2474838..2481213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p2 ALT_REF_LOCI_5

      Range
      2508452..2514827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p2 ALT_REF_LOCI_6

      Range
      2422370..2428743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p2 ALT_REF_LOCI_7

      Range
      2467753..2474125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      31134214..31140570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)