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UniProtKB - Q01860 (PO5F1_HUMAN)

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Protein

POU domain, class 5, transcription factor 1

Gene

POU5F1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.1 Publication

Miscellaneous

Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved in the regulation of POU5F1 gene activity in carcinogenesis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi230 – 289HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • DNA binding Source: HGNC
  • miRNA binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: BHF-UCL
  • sequence-specific DNA binding Source: MGI
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: BHF-UCL
  • transcription factor activity, sequence-specific DNA binding Source: HGNC
  • transcription factor binding Source: BHF-UCL
  • transcription regulatory region DNA binding Source: BHF-UCL
  • transcription regulatory region sequence-specific DNA binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
Complete GO annotation...

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • blastocyst development Source: BHF-UCL
  • BMP signaling pathway involved in heart induction Source: BHF-UCL
  • cardiac cell fate determination Source: BHF-UCL
  • cell fate commitment involved in formation of primary germ layer Source: BHF-UCL
  • endodermal cell fate specification Source: MGI
  • mRNA transcription from RNA polymerase II promoter Source: BHF-UCL
  • negative regulation of gene silencing by miRNA Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • positive regulation of catenin import into nucleus Source: BHF-UCL
  • positive regulation of SMAD protein import into nucleus Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of asymmetric cell division Source: BHF-UCL
  • regulation of gene expression Source: UniProtKB
  • regulation of heart induction by regulation of canonical Wnt signaling pathway Source: BHF-UCL
  • regulation of methylation-dependent chromatin silencing Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: HGNC
  • response to wounding Source: UniProtKB
  • somatic stem cell population maintenance Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: BHF-UCL
Complete GO annotation...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2892245. POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation.
R-HSA-2892247. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
R-HSA-452723. Transcriptional regulation of pluripotent stem cells.
SignaLinkiQ01860.
SIGNORiQ01860.

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 5, transcription factor 1
Alternative name(s):
Octamer-binding protein 3
Short name:
Oct-3
Octamer-binding protein 4
Short name:
Oct-4
Octamer-binding transcription factor 3
Short name:
OTF-3
Gene namesi
Name:POU5F1
Synonyms:OCT3, OCT4, OTF3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:9221. POU5F1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • mitochondrion Source: HPA
  • nucleoplasm Source: BHF-UCL
  • nucleus Source: UniProtKB
  • transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Biotechnological usei

POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.1 Publication

Organism-specific databases

DisGeNETi5460.
OpenTargetsiENSG00000204531.
PharmGKBiPA33545.

Chemistry databases

ChEMBLiCHEMBL3580526.
DrugBankiDB00988. Dopamine.
DB00368. Norepinephrine.

Polymorphism and mutation databases

DMDMi400659.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007471 – 360POU domain, class 5, transcription factor 1Add BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei111Phosphoserine; by MAPK2 Publications1
Cross-linki123Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei235Phosphothreonine1 Publication1
Modified residuei236Phosphoserine1 Publication1
Modified residuei289Phosphoserine1 Publication1
Modified residuei290Phosphoserine1 Publication1
Modified residuei355Phosphoserine1 Publication1

Post-translational modificationi

Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression (By similarity).By similarity
Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation.By similarity
ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ01860.
MaxQBiQ01860.
PaxDbiQ01860.
PeptideAtlasiQ01860.
PRIDEiQ01860.

PTM databases

iPTMnetiQ01860.
PhosphoSitePlusiQ01860.

Expressioni

Tissue specificityi

Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues.2 Publications

Developmental stagei

Highly expressed in undifferentiated embryonic stem cells and expression decreases gradually after embryoid body (EB) formation.1 Publication

Inductioni

Transcriptional activity is positively regulated by PKM.1 Publication

Gene expression databases

BgeeiENSG00000204531.
ExpressionAtlasiQ01860. baseline and differential.
GenevisibleiQ01860. HS.

Organism-specific databases

HPAiCAB025600.
CAB026380.
HPA058267.

Interactioni

Subunit structurei

Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2. Interacts with PCGF1 (PubMed:26687479). Interacts with ESRRB; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter; the intercaction is DNA independent (By similarity).By similarity3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • transcription factor binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
Complete GO annotation...

Protein-protein interaction databases

BioGridi111456. 317 interactors.
DIPiDIP-33440N.
IntActiQ01860. 12 interactors.
MINTiMINT-87567.
STRINGi9606.ENSP00000259915.

Structurei

3D structure databases

ProteinModelPortaliQ01860.
SMRiQ01860.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini138 – 212POU-specificPROSITE-ProRule annotationAdd BLAST75

Domaini

The POU-specific domain mediates interaction with PKM.1 Publication

Sequence similaritiesi

Belongs to the POU transcription factor family. Class-5 subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG3802. Eukaryota.
ENOG410XQ7X. LUCA.
GeneTreeiENSGT00760000118935.
HOVERGENiHBG057998.
InParanoidiQ01860.
KOiK09367.
OMAiLENMFLQ.
OrthoDBiEOG091G0U0S.
PhylomeDBiQ01860.
TreeFamiTF316413.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_dom.
IPR015585. POU_dom_5.
PANTHERiPTHR11636:SF100. PTHR11636:SF100. 1 hit.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
PRINTSiPR00028. POUDOMAIN.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: Q01860-1) [UniParc]FASTAAdd to basket
Also known as: Oct-3A, Oct3A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGHLASDFA FSPPPGGGGD GPGGPEPGWV DPRTWLSFQG PPGGPGIGPG 
        60         70         80         90        100
VGPGSEVWGI PPCPPPYEFC GGMAYCGPQV GVGLVPQGGL ETSQPEGEAG 
       110        120        130        140        150
VGVESNSDGA SPEPCTVTPG AVKLEKEKLE QNPEESQDIK ALQKELEQFA 
       160        170        180        190        200
KLLKQKRITL GYTQADVGLT LGVLFGKVFS QTTICRFEAL QLSFKNMCKL 
       210        220        230        240        250
RPLLQKWVEE ADNNENLQEI CKAETLVQAR KRKRTSIENR VRGNLENLFL 
       260        270        280        290        300
QCPKPTLQQI SHIAQQLGLE KDVVRVWFCN RRQKGKRSSS DYAQREDFEA 
       310        320        330        340        350
AGSPFSGGPV SFPLAPGPHF GTPGYGSPHF TALYSSVPFP EGEAFPPVSV 
       360
TTLGSPMHSN
Length:360
Mass (Da):38,571
Last modified:July 1, 1993 - v1
Checksum:i934C58DAEA0C535B
GO
Isoform B (identifier: Q01860-2) [UniParc]FASTAAdd to basket
Also known as: Oct-3B, Oct3B

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: MAGHLASDFA...KEKLEQNPEE → MHFYRLFLGA...LTSLLPFKIQ

Show »
Length:265
Mass (Da):30,085
Checksum:i41C21E136EFBCBB2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti189A → G in CAA79974 (PubMed:7908264).Curated1
Sequence conflicti220I → T in CAA79974 (PubMed:7908264).Curated1
Sequence conflicti227V → L in CAA79974 (PubMed:7908264).Curated1
Sequence conflicti230R → G in CAA79975 (PubMed:7908264).Curated1
Sequence conflicti240R → Q in CAA79975 (PubMed:7908264).Curated1
Sequence conflicti251Q → R in CAA79975 (PubMed:7908264).Curated1
Sequence conflicti272D → DVVR in AAB35990 (PubMed:8567814).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046203226L → F. Corresponds to variant dbSNP:rs1150767Ensembl.1
Natural variantiVAR_003774322T → A1 Publication1
Natural variantiVAR_046204351T → I. Corresponds to variant dbSNP:rs1061120Ensembl.1
Natural variantiVAR_003775357M → L1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0023331 – 135MAGHL…QNPEE → MHFYRLFLGATRRFLNPEWK GEIDNWCVYVLTSLLPFKIQ in isoform B. 1 PublicationAdd BLAST135

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z11898 mRNA. Translation: CAA77951.1.
Z11899 mRNA. Translation: CAA77952.1.
GQ472773 Genomic DNA. Translation: ACZ95700.1.
AB088113 Genomic DNA. Translation: BAC54946.1.
AB202105 Genomic DNA. Translation: BAE78630.1.
AB103619 Genomic DNA. Translation: BAF31281.1.
BA000025 Genomic DNA. Translation: BAB63311.1.
AL662833 Genomic DNA. Translation: CAI17407.1.
AL662833 Genomic DNA. Translation: CAI17408.1.
AL662844 Genomic DNA. Translation: CAI18331.1.
AL773544 Genomic DNA. Translation: CAI18485.1.
AL773544 Genomic DNA. Translation: CAI18486.1.
BX088580 Genomic DNA. Translation: CAI18708.1.
BX088580 Genomic DNA. Translation: CAI18709.1.
CR759815 Genomic DNA. Translation: CAQ07092.1.
CR759815 Genomic DNA. Translation: CAQ07093.1.
CR388229 Genomic DNA. Translation: CAQ09226.1.
CR388229 Genomic DNA. Translation: CAQ09227.1.
CR847794 Genomic DNA. Translation: CAQ10780.1.
CR847794 Genomic DNA. Translation: CAQ10781.1.
CH471081 Genomic DNA. Translation: EAX03367.1.
CH471081 Genomic DNA. Translation: EAX03368.1.
BC117435 mRNA. Translation: AAI17436.1.
BC117437 mRNA. Translation: AAI17438.1.
Z21963 mRNA. Translation: CAA79974.1.
Z21964 mRNA. Translation: CAA79975.1.
S81255 mRNA. Translation: AAB35990.1.
CCDSiCCDS34391.1. [Q01860-1]
PIRiS25561.
S32652.
RefSeqiNP_001272916.1. NM_001285987.1. [Q01860-2]
NP_002692.2. NM_002701.5. [Q01860-1]
UniGeneiHs.249184.
Hs.632482.
Hs.646545.

Genome annotation databases

EnsembliENST00000259915; ENSP00000259915; ENSG00000204531. [Q01860-1]
ENST00000376243; ENSP00000365419; ENSG00000206454. [Q01860-2]
ENST00000383524; ENSP00000373016; ENSG00000206454. [Q01860-1]
ENST00000412166; ENSP00000387646; ENSG00000229094. [Q01860-2]
ENST00000419095; ENSP00000413622; ENSG00000235068. [Q01860-2]
ENST00000429314; ENSP00000387619; ENSG00000237582. [Q01860-2]
ENST00000429603; ENSP00000392877; ENSG00000233911. [Q01860-1]
ENST00000433063; ENSP00000405041; ENSG00000235068. [Q01860-1]
ENST00000433348; ENSP00000412665; ENSG00000230336. [Q01860-2]
ENST00000434616; ENSP00000388842; ENSG00000229094. [Q01860-1]
ENST00000437747; ENSP00000391681; ENSG00000237582. [Q01860-1]
ENST00000451077; ENSP00000391507; ENSG00000233911. [Q01860-2]
ENST00000454714; ENSP00000400047; ENSG00000230336. [Q01860-1]
GeneIDi5460.
KEGGihsa:5460.
UCSCiuc003nsv.4. human. [Q01860-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiPO5F1_HUMAN
AccessioniPrimary (citable) accession number: Q01860
Secondary accession number(s): A6NCS1
, A6NLL8, D2IYK4, P31359, Q15167, Q15168, Q16422, Q5STF3, Q5STF4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: June 7, 2017
This is version 185 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families