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

Gene ID: 5460, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See POU5F1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31123471-31124086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31124820-31125320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31125321-31125821 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31127045-31127228 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31128969-31129952 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31129953-31130936 Neighboring gene transcription factor 19 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31132319-31132900 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31135533-31136390 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31136391-31137248 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31137249-31138106 Neighboring gene POU5F1 5' regulatory region Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31142488-31143384 Neighboring gene psoriasis susceptibility 1 candidate 3 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31145628-31146222 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31146755-31147256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31148363-31148906 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31153427-31154016 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31154017-31154604 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31158168-31158669 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31163380-31164262 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31166400-31167283 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31167284-31168166 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31169734-31170274 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31170275-31170813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31170972-31171692 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31171693-31172412 Neighboring gene HLA complex group 27

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Implications of transcriptional factor, OCT-4, in human bladder malignancy and tumor recurrence. Huang P, et al. Med Oncol, 2012 Jun. PMID 21533858
  2. Expression analysis of stem cell-related genes reveal OCT4 as a predictor of poor clinical outcome in medulloblastoma. Rodini CO, et al. J Neurooncol, 2012 Jan. PMID 21725800
  3. OCT4B1, a novel spliced variant of OCT4, generates a stable truncated protein with a potential role in stress response. Farashahi Yazd E, et al. Cancer Lett, 2011 Oct 28. PMID 21684074
  4. [Expression of Oct-4 transcription factor in squamous cell skin carcinoma and seborrheic keratosis]. Li YY, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2011 May. PMID 21602158
  5. [Small interfering RNA-mediated OCT4 gene silencing inhibits the proliferation and induces apoptosis of pancreatic cancer cell line PANC1]. Huang JQ. Nan Fang Yi Ke Da Xue Xue Bao, 2011 May. PMID 21602143

See all (689) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Oct4 controls basement membrane development during human embryogenesis.
    Title: Oct4 controls basement membrane development during human embryogenesis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
EBI GWAS Catalog
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC22487

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 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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31164337..31170682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2646761..2653124 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    2423653..2430016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    2474838..2481202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    2508452..2514816 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    2422370..2428732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    2467753..2474114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31032017..31038380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01860.1 GenPept UniProtKB/Swiss-Prot:Q01860

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