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Reviewed, UniProtKB/Swiss-Prot Q01860 (PO5F1_HUMAN)

Last modified February 9, 2010. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    POU domain, class 5, transcription factor 1
Alternative name(s):
    Octamer-binding transcription factor 3
      Short name=OTF-3
    Octamer-binding protein 3
      Short name=Oct-3
    Octamer-binding protein 4
      Short name=Oct-4
Gene names
Name: POU5F1
Synonyms: OCT3, OCT4, OTF3
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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 By similarity.

Subunit structure

Interacts with UBE2I By similarity. Interacts with PKM2. Ref.10

Subcellular location

Nucleus. Note: Expressed in a diffuse and slightly punctuate pattern. Ref.10

Tissue specificity

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. Ref.1 Ref.7

Induction

Transcriptional activity is positively regulated by PKM2. Ref.10

Domain

The POU-specific domain mediates interaction with PKM2. Ref.10

Post-translational modification

Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression By similarity.

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.

Sequence similarities

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

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FOXD3Q9UJU52EBI-475687,EBI-475674

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q01860-1)

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.
Isoform B (identifier: Q01860-2)

Also known as: Oct-3B; Oct3B;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360POU domain, class 5, transcription factor 1
PRO_0000100747

Regions

Domain138 – 21275POU-specific
DNA binding230 – 28960Homeobox

Amino acid modifications

Cross-link123Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity

Natural variations

Alternative sequence1 – 135135MAGHL…QNPEE → MHFYRLFLGATRRFLNPEWK GEIDNWCVYVLTSLLPFKIQ in isoform B.
VSP_002333
Natural variant2261L → F: dbSNP rs1150767.
VAR_046203
Natural variant3221T → A
VAR_003774
Natural variant3511T → I: dbSNP rs1061120.
VAR_046204
Natural variant3571M → L
VAR_003775

Experimental info

Sequence conflict1891A → G in CAA79974. Ref.7
Sequence conflict2201I → T in CAA79974. Ref.7
Sequence conflict2271V → L in CAA79974. Ref.7
Sequence conflict2301R → G in CAA79975. Ref.7
Sequence conflict2401R → Q in CAA79975. Ref.7
Sequence conflict2511Q → R in CAA79975. Ref.7
Sequence conflict2721D → DVVR in AAB35990. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform A (Oct-3A) (Oct3A) [UniParc].

Last modified July 1, 1993. Version 1.
Checksum: 934C58DAEA0C535B

FASTA36038,571
        10         20         30         40         50         60 
MAGHLASDFA FSPPPGGGGD GPGGPEPGWV DPRTWLSFQG PPGGPGIGPG VGPGSEVWGI 

        70         80         90        100        110        120 
PPCPPPYEFC GGMAYCGPQV GVGLVPQGGL ETSQPEGEAG VGVESNSDGA SPEPCTVTPG 

       130        140        150        160        170        180 
AVKLEKEKLE QNPEESQDIK ALQKELEQFA KLLKQKRITL GYTQADVGLT LGVLFGKVFS 

       190        200        210        220        230        240 
QTTICRFEAL QLSFKNMCKL RPLLQKWVEE ADNNENLQEI CKAETLVQAR KRKRTSIENR 

       250        260        270        280        290        300 
VRGNLENLFL QCPKPTLQQI SHIAQQLGLE KDVVRVWFCN RRQKGKRSSS DYAQREDFEA 

       310        320        330        340        350        360 
AGSPFSGGPV SFPLAPGPHF GTPGYGSPHF TALYSSVPFP EGEAFPPVSV TTLGSPMHSN 

« Hide

Isoform B (Oct-3B) (Oct3B).

Checksum: 41C21E136EFBCBB2
Show »

FASTA26530,085

References

« Hide 'large scale' references
[1]"Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues."
Takeda J., Seino S., Bell G.I.
Nucleic Acids Res. 20:4613-4620(1992) [PubMed: 1408763] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANTS ALA-322 AND LEU-357, TISSUE SPECIFICITY.
Tissue: Kidney.
[2]"Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity."
Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M., Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K., Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y., Meyer A. expand/collapse author list , Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K., Gojobori T., Inoko H., Bahram S.
Genetics 173:1555-1570(2006) [PubMed: 16702430] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Peripheral blood leukocyte.
[3]"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
Shiina S., Tamiya G., Oka A., Inoko H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed: 14574404] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[7]"A human POU domain gene, mPOU, is expressed in developing brain and specific adult tissues."
Wey E., Lyons G.E., Schaefer B.W.
Eur. J. Biochem. 220:753-762(1994) [PubMed: 7908264] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 188-274, TISSUE SPECIFICITY.
Tissue: Heart and Skeletal muscle.
[8]"Expression of transcription regulating genes in human preimplantation embryos."
Abdel-Rahman B., Fiddler M., Rappolee D., Pergament E.
Hum. Reprod. 10:2787-2792(1995) [PubMed: 8567814] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 212-283.
[9]"Oct4 pseudogenes are transcribed in cancers."
Suo G., Han J., Wang X., Zhang J., Zhao Y., Zhao Y., Dai J.
Biochem. Biophys. Res. Commun. 337:1047-1051(2005) [PubMed: 16229821] [Abstract]
Cited for: IDENTIFICATION.
[10]"Pyruvate kinase isozyme type M2 (PKM2) interacts and cooperates with Oct-4 in regulating transcription."
Lee J., Kim H.K., Han Y.-M., Kim J.
Int. J. Biochem. Cell Biol. 40:1043-1054(2008) [PubMed: 18191611] [Abstract]
Cited for: INTERACTION WITH PKM2, SUBCELLULAR LOCATION, DOMAIN, INDUCTION.
+Additional computationally mapped references.

Web resources

Wikipedia

Oct-4 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z11898 mRNA. Translation: CAA77951.1.
Z11899 mRNA. Translation: CAA77952.1.
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.
IPIIPI00219089.
IPI00294177.
PIRS25561.
S32652.
RefSeqNP_002692.2.
NP_976034.3.
UniGeneHs.249184
Hs.632482
Hs.646545

3D structure databases

SMRQ01860. Positions 144-289.
ModBaseSearch...

Protein-protein interaction databases

IntActQ01860. 1 interaction.
STRINGQ01860.

PTM databases

PhosphoSiteQ01860.

Proteomic databases

PRIDEQ01860.

Genome annotation databases

EnsemblENST00000259915; ENSP00000259915; ENSG00000204531; Homo sapiens. [Genome view]
ENST00000383524; ENSP00000373016; ENSG00000206454; Homo sapiens. [Genome view]
ENST00000429603; ENSP00000392877; ENSG00000233911; Homo sapiens. [Genome view]
ENST00000433063; ENSP00000405041; ENSG00000235068; Homo sapiens. [Genome view]
ENST00000434616; ENSP00000388842; ENSG00000229094; Homo sapiens. [Genome view]
ENST00000437747; ENSP00000391681; ENSG00000237582; Homo sapiens. [Genome view]
ENST00000454714; ENSP00000400047; ENSG00000230336; Homo sapiens. [Genome view]
GeneID5460.
KEGGhsa:5460.
UCSCuc003nsv.1. human.

Organism-specific databases

CTD5460.
GeneCardsGC06M031240.
H-InvDBHIX0050476.
HIX0058021.
HIX0058196.
HGNCHGNC:9221. POU5F1.
HPACAB025600.
MIM164177. gene.
PharmGKBPA33545.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG06303.
HOVERGENQ01860.
InParanoidQ01860.
OMALENMFLQ.
OrthoDBEOG9QRKPB.

Gene expression databases

BgeeQ01860.
GenevestigatorQ01860.
GermOnlineENSG00000204531. Homo sapiens.

Family and domain databases

InterProIPR001356. Homeobox.
IPR017970. Homeobox_CS.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
IPR010982. Lambda_DNA-bd.
IPR013847. POU.
IPR015585. POU_dom_5.
IPR000327. POU_specific.
[Graphical view]
Gene3DG3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
PANTHERPTHR11636:SF15. POU_5. 1 hit.
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSPR00028. POUDOMAIN.
SMARTSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio21135.
SOURCESearch...

Entry information

Entry namePO5F1_HUMAN
AccessionPrimary (citable) accession number: Q01860
Secondary accession number(s): A6NCS1 expand/collapse secondary AC list , A6NLL8, P31359, Q15167, Q15168, Q16422, Q5STF3, Q5STF4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: February 9, 2010
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents