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

Summary

Official Symbol: POU5F1provided by HGNC
Official Full Name: POU class 5 homeobox 1provided by HGNC
Primary source: HGNC:HGNC:9221
See related: Ensembl:ENSG00000204531 MIM:164177; AllianceGenome:HGNC:9221
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; Oct3/4
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]
Expression: Broad expression in lung (RPKM 1.3), small intestine (RPKM 1.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31164337..31170682, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31032017..31038380, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31132114..31138459, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC00662 Promotes Aggressive Traits by Modulating OCT4 Expression through miR-335-5p in Gallbladder Cancer Cells.
Title: LINC00662 Promotes Aggressive Traits by Modulating OCT4 Expression through miR-335-5p in Gallbladder Cancer Cells.
Oct4 controls basement membrane development during human embryogenesis.
Title: Oct4 controls basement membrane development during human embryogenesis.
The m6A reader IGF2BP2 promotes the progression of esophageal squamous cell carcinoma cells by increasing the stability of OCT4 mRNA.
Title: The m6A reader IGF2BP2 promotes the progression of esophageal squamous cell carcinoma cells by increasing the stability of OCT4 mRNA.
Oct4 is a gatekeeper of epithelial identity by regulating cytoskeletal organization in skin keratinocytes.
Title: Oct4 is a gatekeeper of epithelial identity by regulating cytoskeletal organization in skin keratinocytes.
Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
Title: Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
Oct4 activates IL-17A to orchestrate M2 macrophage polarization and cervical cancer metastasis.
Title: Oct4 activates IL-17A to orchestrate M2 macrophage polarization and cervical cancer metastasis.
A positive feedback between PDIA3P1 and OCT4 promotes the cancer stem cell properties of esophageal squamous cell carcinoma.
Title: A positive feedback between PDIA3P1 and OCT4 promotes the cancer stem cell properties of esophageal squamous cell carcinoma.
UTP11 promotes the growth of hepatocellular carcinoma by enhancing the mRNA stability of Oct4.
Title: UTP11 promotes the growth of hepatocellular carcinoma by enhancing the mRNA stability of Oct4.
POU5F1 promotes the proliferation, migration, and invasion of gastric cancer cells by reducing the ubiquitination level of TRAF6.
Title: POU5F1 promotes the proliferation, migration, and invasion of gastric cancer cells by reducing the ubiquitination level of TRAF6.
A paradigm for post-embryonic Oct4 re-expression: E7-induced hydroxymethylation regulates Oct4 expression in cervical cancer.
Title: A paradigm for post-embryonic Oct4 re-expression: E7-induced hydroxymethylation regulates Oct4 expression in cervical cancer.

Submit: New GeneRIF Correction See all GeneRIFs (604)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:191805 (e-PCR)
- UniSTS:155653

GDB:191806 (e-PCR)
- UniSTS:155654

GDB:191807 (e-PCR)
- UniSTS:155655

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-12693 (e-PCR)
- UniSTS:38468

D10S16 (e-PCR)
- UniSTS:155756

D16S325 (e-PCR)
- UniSTS:147089

POU5F1 (e-PCR)
- UniSTS:479943

NoName (e-PCR)
- UniSTS:490233

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in blastocyst development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac cell fate determination	IDA Inferred from Direct Assay more info	PubMed
involved_in cell fate commitment involved in formation of primary germ layer	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endodermal cell fate specification	IDA Inferred from Direct Assay more info	PubMed
involved_in endodermal-mesodermal cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in heart induction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of asymmetric cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to wounding	IEP Inferred from Expression Pattern more info	PubMed
involved_in somatic stem cell population maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: POU domain, class 5, transcription factor 1

Names: 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

NCBI Reference Sequences (RefSeq)

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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)

NM_001173531.3 → NP_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, U3KQH6

Related

ENSP00000475880.2, ENST00000606567.6

Conserved Domains (2) summary

pfam00046
Location:63 → 116

Homeobox; Homeobox domain

cl22952
Location:1 → 42

Pou; Pou domain - N-terminal to homeobox domain
NM_001285986.2 → NP_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

ENSP00000475512.1, ENST00000513407.1

Conserved Domains (2) summary

pfam00046
Location:37 → 91

Homeobox; Homeobox domain

cl22952
Location:1 → 16

Pou; Pou domain - N-terminal to homeobox domain
NM_001285987.1 → NP_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:43 → 117

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:138 → 191

Homeobox; Homeobox domain
NM_002701.6 → NP_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/Swiss-Prot

A6NCS1, A6NLL8, D2IYK4, P31359, Q01860, Q15167, Q15168, Q16422, Q5STF3, Q5STF4

UniProtKB/TrEMBL

D2IYK3, D5K9Q6, D5K9Q7, D5K9Q9, D5K9R2, D5K9R3, D5K9R5, D5K9R7, D5K9R9, D5K9S1, E9LR73, E9LR75

Related

ENSP00000259915.7, ENST00000259915.13

Conserved Domains (2) summary

smart00352
Location:138 → 212

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:233 → 287

Homeobox; Homeobox domain
NM_203289.6 → NP_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, U3KQH6

Conserved Domains (2) summary

pfam00046
Location:63 → 116

Homeobox; Homeobox domain

cl22952
Location:1 → 42

Pou; Pou domain - N-terminal to homeobox domain