Reviewed,
UniProtKB/Swiss-Prot Q01860 (PO5F1_HUMAN)
Last modified
February 9, 2010.
Version 110.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended 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 |
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| 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. |
| 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. 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. |
Ontologies
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
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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. 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. 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. 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. |
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. |
| IPI | IPI00219089. IPI00294177. |
| PIR | S25561. S32652. |
| RefSeq | NP_002692.2. NP_976034.3. |
| UniGene | Hs.249184 Hs.632482 Hs.646545 |
3D structure databases | |
| SMR | Q01860. Positions 144-289. |
| 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] 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] |
| GeneID | 5460. |
| KEGG | hsa:5460. |
| UCSC | 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 | |
| eggNOG | prNOG06303. |
| HOVERGEN | Q01860. |
| InParanoid | Q01860. |
| OMA | LENMFLQ. |
| OrthoDB | EOG9QRKPB. |
Gene expression databases | |
| Bgee | Q01860. |
| Genevestigator | Q01860. |
| GermOnline | ENSG00000204531. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001356. 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] |
| 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. |
| 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 Q5STF4 | ||||||||
| Entry history |
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| 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. | ||||||||
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 |

Clusters with


