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


RefSeq Accession Definition Sequence Price Select
NM_002701 Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA. Full Length $409.19
ORF Sequence $314.07
NM_203289 Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 2, mRNA. Full Length $505.47
ORF Sequence $166.17
NM_001173531 Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 3, mRNA. Full Length $364.53
ORF Sequence $166.17


Gene Symbol POU5F1
Entrez Gene ID 5460
Full Name POU class 5 homeobox 1
Synonyms MGC22487, OCT3, OCT4, OTF-3, OTF3, OTF4, Oct-3, Oct-4
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p21.31
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].
Disorder

MIM: 164177
mRNA NM_002701, 116235483
Protein NP_002692, 42560248
Product POU domain, class 5, transcription factor 1 isoform 1
RefSeq Status REVIEWED
mRNA NM_203289, 291167754
Protein NP_976034, 291167755
Product POU domain, class 5, transcription factor 1 isoform 2
RefSeq Status REVIEWED
mRNA NM_001173531, 291167756
Protein NP_001167002, 291167757
Product POU domain, class 5, transcription factor 1 isoform 2
RefSeq Status REVIEWED
Pathway Interaction Database
hif2pathwayHIF-2-alpha transcription factor network
WikiPathways
WP399Wnt Signaling Pathway and Pluripotency
Homo sapiens (human)POU5F1NP_002692.2
Pan troglodytes (chimpanzee)POU5F1XP_001135162.1
Canis lupus familiaris (dog)POU5F1XP_538830.1
Bos taurus (cattle)POU5F1NP_777005.1
Mus musculus (house mouse)Pou5f1NP_038661.2
Rattus norvegicus (Norway rat)Pou5f1NP_001009178.1
Danio rerio (zebrafish)pou5f1NP_571187.1
Process
IDNameEvidence
GO:0001824blastocyst developmentISS
GO:0003130BMP signaling pathway involved in heart inductionIMP
GO:0006351transcription, DNA-dependentIDA
GO:0006351transcription, DNA-dependentTAS
GO:0006355regulation of transcription, DNA-dependentIDA
GO:0006366transcription from RNA polymerase II promoterISS
GO:0007275multicellular organismal developmentIEA
GO:0009611response to woundingIEP
GO:0009653anatomical structure morphogenesisTAS
GO:0009786regulation of asymmetric cell divisionISS
GO:0010468regulation of gene expressionIMP
GO:0035019somatic stem cell maintenanceIDA
GO:0035019somatic stem cell maintenanceIMP
GO:0035413positive regulation of catenin import into nucleusIDA
GO:0042789mRNA transcription from RNA polymerase II promoterISS
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0060391positive regulation of SMAD protein import into nucleusIDA
GO:0060795cell fate commitment involved in formation of primary germ layersIMP
GO:0060913cardiac cell fate determinationIDA
GO:0060965negative regulation of gene silencing by miRNAIMP
GO:0090081regulation of heart induction by regulation of canonical Wnt receptor signaling pathwayIMP
GO:0090308regulation of methylation-dependent chromatin silencingIDA
Component
IDNameEvidence
GO:0005634nucleusIC
GO:0005634nucleusIDA
GO:0005654nucleoplasmIDA
GO:0005667transcription factor complexIDA
GO:0005737cytoplasmIDA
GO:0005829cytosolIDA
Function
IDNameEvidence
GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activityISS
GO:0003677DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0031625ubiquitin protein ligase bindingIPI
GO:0035198miRNA bindingIDA
GO:0043565sequence-specific DNA bindingIEA
GeneCards POU5F1
UniProt D2IYK3, Q01860
MIM 164177
Ensembl ENSG00000256919
HGNC 9221
HPRD 01252

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