POU5F1 - Gene info - The Human Protein Atlas

Gene name

POU5F1 (HGNC Symbol)

Synonyms

MGC22487, OCT3, Oct4, OTF3

Description

POU class 5 homeobox 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

Cytoband

p21.33

Chromosome location (bp)

31164337 - 31180731

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204531 (version 78.38)

Entrez gene

5460

UniProt

Q01860 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

POU5F1-001

ENSP00000259915
ENST00000259915

Q01860
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Q01860 [Direct mapping]
POU domain, class 5, transcription factor 1
D2IYK3 [Target identity:100%; Query identity:100%]
POU class 5 homeobox 1 transcript variant 1 {ECO:0000313|EMBL:ACZ95699.1}; POU domain class 5 transcription factor 1 isoform 1 {ECO:0000313|EMBL:AGG40970.1}; POU domain transcription factor OCT4 {ECO:0000313|EMBL:ADE48539.1}
U3KQH6 [Target identity:52%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000475880}
F2Z381 [Target identity:45%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}
B5B8P8 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76279.1}
B5B8Q4 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76285.1}
B5B8Q2 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76283.1}
B5B8Q1 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76282.1}
B5B8Q0 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76281.1}
B5B8P9 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76280.1}
B5B8N7 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76268.1}
B5B8P7 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76278.1}
B5B8P6 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76277.1}
B5B8P4 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76275.1}
B5B8P3 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76274.1}
B5B8P2 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76273.1}
B5B8P1 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76272.1}
B5B8P0 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76271.1}
B5B8N9 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76270.1}
B5B8N8 [Target identity:35%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76269.1}

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Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)

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GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity]
GO:0001714 [endodermal cell fate specification]
GO:0001824 [blastocyst development]
GO:0003130 [BMP signaling pathway involved in heart induction]
GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008134 [transcription factor binding]
GO:0009611 [response to wounding]
GO:0009653 [anatomical structure morphogenesis]
GO:0009786 [regulation of asymmetric cell division]
GO:0010468 [regulation of gene expression]
GO:0031625 [ubiquitin protein ligase binding]
GO:0035019 [somatic stem cell maintenance]
GO:0035198 [miRNA binding]
GO:0035413 [positive regulation of catenin import into nucleus]
GO:0042789 [mRNA transcription from RNA polymerase II promoter]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0044822 [poly(A) RNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0060391 [positive regulation of SMAD protein import into nucleus]
GO:0060795 [cell fate commitment involved in formation of primary germ layer]
GO:0060913 [cardiac cell fate determination]
GO:0060965 [negative regulation of gene silencing by miRNA]
GO:0090081 [regulation of heart induction by regulation of canonical Wnt signaling pathway]
GO:0090308 [regulation of methylation-dependent chromatin silencing]

360

38.6

POU5F1-002

ENSP00000425083
ENST00000471529

F2Z381
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F2Z381 [Target identity:100%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}

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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043565 [sequence-specific DNA binding]

164

18.3

POU5F1-004

ENSP00000389359
ENST00000441888

F2Z381
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F2Z381 [Target identity:100%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}

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164

18.3

POU5F1-005

ENSP00000475512
ENST00000513407

F2Z381
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F2Z381 [Target identity:100%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}

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164

18.3

POU5F1-006

ENSP00000425479
ENST00000512818

F2Z381
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F2Z381 [Target identity:100%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}

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164

18.3

POU5F1-007

ENSP00000475880
ENST00000606567

U3KQH6
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U3KQH6 [Target identity:100%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000475880}
F2Z381 [Target identity:86%; Query identity:100%]
POU domain, class 5, transcription factor 1 {ECO:0000313|Ensembl:ENSP00000425479}

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190

21.2

POU5F1-201

ENSP00000481679
ENST00000619340

B5B8N7
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B5B8N7 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76268.1}
B5B8N8 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76269.1}
B5B8N9 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76270.1}
B5B8P0 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76271.1}
B5B8P1 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76272.1}
B5B8P2 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76273.1}
B5B8P3 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76274.1}
B5B8P4 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76275.1}
B5B8P6 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76277.1}
B5B8P7 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76278.1}
B5B8P8 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76279.1}
B5B8P9 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76280.1}
B5B8Q0 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76281.1}
B5B8Q1 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76282.1}
B5B8Q2 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76283.1}
B5B8Q4 [Target identity:67%; Query identity:100%]
POU class 5 homeobox 1 {ECO:0000313|EMBL:CAQ76285.1}

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0006355 [regulation of transcription, DNA-templated]

186

19.1

POU5F1-202

ENSP00000484778
ENST00000620031

U3KQH6
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190

21.2

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.