POU5F1
POU domain, class 5, transcription factor 1
Also known as: MGC22487, OCT-4, OCT3, Oct3/4, Oct4, OTF3, PO5F1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q01860
- Gene
- POU5F1
- Ensembl
- ENSG00000204531
- Chromosome
- 6
- Canonical length
- 360 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
360 residues, UniProt reviewed canonical sequence.
>Q01860|POU5F1
1 MAGHLASDFA FSPPPGGGGD GPGGPEPGWV DPRTWLSFQG PPGGPGIGPG VGPGSEVWGI
61 PPCPPPYEFC GGMAYCGPQV GVGLVPQGGL ETSQPEGEAG VGVESNSDGA SPEPCTVTPG
121 AVKLEKEKLE QNPEESQDIK ALQKELEQFA KLLKQKRITL GYTQADVGLT LGVLFGKVFS
181 QTTICRFEAL QLSFKNMCKL RPLLQKWVEE ADNNENLQEI CKAETLVQAR KRKRTSIENR
241 VRGNLENLFL QCPKPTLQQI SHIAQQLGLE KDVVRVWFCN RRQKGKRSSS DYAQREDFEA
301 AGSPFSGGPV SFPLAPGPHF GTPGYGSPHF TALYSSVPFP EGEAFPPVSV TTLGSPMHSNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against POU5F1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- kidney: 17 nTPM
- pancreas: 13 nTPM
- stomach: 10 nTPM
- urinary bladder: 10 nTPM
- liver: 8.7 nTPM
- fallopian tube: 8.4 nTPM
Single-cell type
- proximal tubule cells: 147 nCPM
- renal collecting duct intercalated cells: 106 nCPM
- renal collecting duct principal cells: 78 nCPM
- loop of henle epithelial cells: 70 nCPM
- papillary tip epithelial cells: 56 nCPM
- renal connecting tubule cells: 24 nCPM
Immune cell
- naive B-cell: 0.5 nTPM
- basophil: 0.4 nTPM
- neutrophil: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
- NK-cell: 0.2 nTPM
- classical monocyte: 0.1 nTPM
Brain region
- white matter: 6.9 nTPM
- cerebellum: 6.3 nTPM
- medulla oblongata: 5.9 nTPM
- thalamus: 5.9 nTPM
- cerebral cortex: 5.8 nTPM
- amygdala: 5.6 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.34
- gnomAD pLI
- 0.95
- gnomAD missense Z
- 1.76
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- blastocyst development
- BMP signaling pathway
- cardiac cell fate determination
- endodermal cell fate specification
- endodermal-mesodermal cell signaling
- heart induction
- negative regulation of miRNA transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of canonical Wnt signaling pathway
- positive regulation of transcription by RNA polymerase II
- regulation of asymmetric cell division
- regulation of DNA-templated transcription
- regulation of gene expression
- regulation of transcription by RNA polymerase II
- response to wounding
- somatic stem cell population maintenance
- cell fate commitment involved in formation of primary germ layer
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- miRNA binding
- RNA binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of POU5F1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads POU5F1 as an antibody target. Whether an autoantibody or antibody against POU5F1 could matter depends on whether native POU5F1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
POU5F1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label POU5F1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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