Reviewed, UniProtKB/Swiss-Prot Q01860 (PO5F1_HUMAN)

Names and origin

Protein names

Recommended name:
    POU domain, class 5, transcription factor 1
Alternative name(s):
    Octamer-binding transcription factor 3
      Short name=Oct-3
    Oct-4

Gene names

Name:	POU5F1
Synonyms:	OCT3, OCT4, OTF3

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Homeobox
Ligand	DNA-binding
PTM	Isopeptide bond Ubl conjugation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Traceable author statement. Source: ProtInc regulation of transcription, DNA-dependent Inferred from direct assay. Source: HGNC transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB nucleus Ref.10 Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Ref.10 Inferred from physical interaction. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Inferred from direct assay. Source: HGNC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FOXD3	Q9UJU5	2	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	POU domain, class 5, transcription factor 1		PRO_0000100747
Regions
	Domain	138 – 212	75	POU-specific
	DNA binding	230 – 289	60	Homeobox
Amino acid modifications
	Cross-link	123		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Natural variations
	Alternative sequence	1 – 135	135	MAGHL…QNPEE → MHFYRLFLGATRRFLNPEWK GEIDNWCVYVLTSLLPFKIQ in isoform B.		VSP_002333
	Natural variant	226	1	L → F: dbSNP rs1150767.		VAR_046203
	Natural variant	322	1	T → A		VAR_003774
	Natural variant	351	1	T → I: dbSNP rs1061120.		VAR_046204
	Natural variant	357	1	M → L		VAR_003775
Experimental info
	Sequence conflict	189	1	A → G in CAA79974. Ref.7
	Sequence conflict	220	1	I → T in CAA79974. Ref.7
	Sequence conflict	227	1	V → L in CAA79974. Ref.7
	Sequence conflict	230	1	R → G in CAA79975. Ref.7
	Sequence conflict	240	1	R → Q in CAA79975. Ref.7
	Sequence conflict	251	1	Q → R in CAA79975. Ref.7
	Sequence conflict	272	1	D → DVVR in AAB35990. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform A (Oct-3A) (Oct3A) [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 934C58DAEA0C535B	FASTA	360	38,571
	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
	Isoform B (Oct-3B) (Oct3B). Checksum: 41C21E136EFBCBB2	FASTA	265	30,085
	10 20 30 40 50 60 MHFYRLFLGA TRRFLNPEWK GEIDNWCVYV LTSLLPFKIQ SQDIKALQKE LEQFAKLLKQ 70 80 90 100 110 120 KRITLGYTQA DVGLTLGVLF GKVFSQTTIC RFEALQLSFK NMCKLRPLLQ KWVEEADNNE 130 140 150 160 170 180 NLQEICKAET LVQARKRKRT SIENRVRGNL ENLFLQCPKP TLQQISHIAQ QLGLEKDVVR 190 200 210 220 230 240 VWFCNRRQKG KRSSSDYAQR EDFEAAGSPF SGGPVSFPLA PGPHFGTPGY GSPHFTALYS 250 260 SVPFPEGEAF PPVSVTTLGS PMHSN

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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
EMBLGenBankDDBJ	Z11898 mRNA. Translation: CAA77951.1. Z11899 mRNA. Translation: CAA77952.1. AB088113 Genomic DNA. Translation: BAC54946.1. AB202105 Genomic RNA. 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.
IPI	IPI00219089. IPI00294177.
PIR	S25561. S32652.
RefSeq	NP_002692.2. NP_976034.3.
UniGene	Hs.249184 Hs.632482 Hs.646545
3D structure databases
HSSP	HSSP built from PDB template 1OCP based on UniProtKB P20263.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q01860. 1 interaction.
STRING	Q01860.
PTM databases
PhosphoSite	Q01860.
Proteomic databases
PRIDE	Q01860.
Genome annotation databases
Ensembl	ENST00000259915; ENSP00000259915; ENSG00000204531; Homo sapiens. [Genome view] ENST00000376243; ENSP00000365419; ENSG00000206454; Homo sapiens. [Genome view] ENST00000383524; ENSP00000373016; ENSG00000206454; Homo sapiens. [Genome view] ENST00000412166; ENSP00000387646; ENSG00000229094; Homo sapiens. [Genome view] ENST00000419095; ENSP00000413622; ENSG00000235068; Homo sapiens. [Genome view] ENST00000420806; ENSP00000405122; ENSG00000206454; Homo sapiens. [Genome view] ENST00000421399; ENSP00000413535; ENSG00000206454; Homo sapiens. [Genome view] ENST00000423782; ENSP00000398515; ENSG00000237582; Homo sapiens. [Genome view] ENST00000424624; ENSP00000403592; ENSG00000204531; Homo sapiens. [Genome view] ENST00000428184; ENSP00000388685; ENSG00000204531; Homo sapiens. [Genome view] ENST00000429233; ENSP00000391906; ENSG00000233911; Homo sapiens. [Genome view] ENST00000429314; ENSP00000387619; ENSG00000237582; Homo sapiens. [Genome view] ENST00000429603; ENSP00000392877; ENSG00000233911; Homo sapiens. [Genome view] ENST00000430678; ENSP00000401571; ENSG00000237582; Homo sapiens. [Genome view] ENST00000431280; ENSP00000393786; ENSG00000230336; Homo sapiens. [Genome view] ENST00000433063; ENSP00000405041; ENSG00000235068; Homo sapiens. [Genome view] ENST00000433348; ENSP00000412665; ENSG00000230336; Homo sapiens. [Genome view] ENST00000434616; ENSP00000388842; ENSG00000229094; Homo sapiens. [Genome view] ENST00000437747; ENSP00000391681; ENSG00000237582; Homo sapiens. [Genome view] ENST00000439404; ENSP00000402288; ENSG00000229094; Homo sapiens. [Genome view] ENST00000441888; ENSP00000389359; ENSG00000204531; Homo sapiens. [Genome view] ENST00000448286; ENSP00000400954; ENSG00000235068; Homo sapiens. [Genome view] ENST00000448657; ENSP00000416165; ENSG00000204531; Homo sapiens. [Genome view] ENST00000451077; ENSP00000391507; ENSG00000233911; Homo sapiens. [Genome view] ENST00000454714; ENSP00000400047; ENSG00000230336; Homo sapiens. [Genome view]
GeneID	5460.
KEGG	hsa:5460.
UCSC	uc003nsu.1. human. uc003nsv.1. human.
Organism-specific databases
CTD	5460.
GeneCards	GC06M031240.
H-InvDB	HIX0050476. HIX0058021. HIX0058196.
HGNC	HGNC:9221. POU5F1.
HPA	CAB025600.
MIM	164177. gene.
PharmGKB	PA33545.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q01860.
OMA	LENMFLQ.
Gene expression databases
Bgee	Q01860.
Genevestigator	Q01860.
GermOnline	ENSG00000204531. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. IPR013847. POU. IPR015585. POU_dom_5. IPR000327. POU_specific. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
PANTHER	PTHR11636:SF15. POU_5. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF00157. Pou. 1 hit. [Graphical view]
PRINTS	PR00028. POUDOMAIN.
ProDom	PD000010. Homeobox. 1 hit. PD000583. POU. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view]
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. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	21135.
SOURCE	Search...

Entry information

Entry name

PO5F1_HUMAN

Accession

Primary (citable) accession number: Q01860
Secondary accession number(s): A6NCS1 , 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:	November 3, 2009
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.