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

Gene ID: 5460, updated on 29-Sep-2014
Official Symbol
POU5F1provided by HGNC
Official Full Name
POU class 5 homeobox 1provided by HGNC
Primary source
HGNC: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 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]
See POU5F1 in Epigenomics, MapViewer
Location:
6p21.31
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 polymerase (RNA) II (DNA directed) polypeptide L pseudogene 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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
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 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 
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
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_001173531.2NP_001167002.1  POU domain, class 5, transcription factor 1 isoform 2

    See proteins identical to 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.
    cl02582
    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 proteins identical to 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.
    cl02582
    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 proteins identical to 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 proteins identical to 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 proteins identical to 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.
    cl02582
    Location:142
    Pou; Pou domain - N-terminal to homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 

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

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 

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

Reference GRCh38 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 

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

Reference GRCh38 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 

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

Reference GRCh38 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 

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

Reference GRCh38 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    30934532..30940906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

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