ID   PO5F1_HUMAN             Reviewed;         360 AA.
AC   Q01860; A6NCS1; A6NLL8; P31359; Q15167; Q15168; Q16422; Q5STF3;
AC   Q5STF4;
DT   01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT   01-JUL-1993, sequence version 1.
DT   13-OCT-2009, entry version 105.
DE   RecName: Full=POU domain, class 5, transcription factor 1;
DE   AltName: Full=Octamer-binding transcription factor 3;
DE            Short=Oct-3;
DE   AltName: Full=Oct-4;
GN   Name=POU5F1; Synonyms=OCT3, OCT4, OTF3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANTS ALA-322 AND
RP   LEU-357, AND TISSUE SPECIFICITY.
RC   TISSUE=Kidney;
RX   MEDLINE=93027160; PubMed=1408763; DOI=10.1093/nar/20.17.4613;
RA   Takeda J., Seino S., Bell G.I.;
RT   "Human Oct3 gene family: cDNA sequences, alternative splicing, gene
RT   organization, chromosomal location, and expression at low levels in
RT   adult tissues.";
RL   Nucleic Acids Res. 20:4613-4620(1992).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   TISSUE=Peripheral blood leukocyte;
RX   PubMed=16702430; DOI=10.1534/genetics.106.057034;
RA   Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
RA   Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
RA   Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y.,
RA   Meyer A., Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K.,
RA   Gojobori T., Inoko H., Bahram S.;
RT   "Rapid evolution of major histocompatibility complex class I genes in
RT   primates generates new disease alleles in humans via hitchhiking
RT   diversity.";
RL   Genetics 173:1555-1570(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Shiina S., Tamiya G., Oka A., Inoko H.;
RT   "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL   Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22935763; PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA   Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA   Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA   Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA   Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA   Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA   Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA   Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA   Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA   Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA   Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA   Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA   McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA   Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA   Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA   Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA   Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA   Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA   Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA   Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA   Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA   Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 188-274, AND TISSUE SPECIFICITY.
RC   TISSUE=Heart, and Skeletal muscle;
RX   MEDLINE=94192665; PubMed=7908264;
RX   DOI=10.1111/j.1432-1033.1994.tb18676.x;
RA   Wey E., Lyons G.E., Schaefer B.W.;
RT   "A human POU domain gene, mPOU, is expressed in developing brain and
RT   specific adult tissues.";
RL   Eur. J. Biochem. 220:753-762(1994).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 212-283.
RX   MEDLINE=96160538; PubMed=8567814;
RA   Abdel-Rahman B., Fiddler M., Rappolee D., Pergament E.;
RT   "Expression of transcription regulating genes in human preimplantation
RT   embryos.";
RL   Hum. Reprod. 10:2787-2792(1995).
RN   [9]
RP   IDENTIFICATION.
RX   PubMed=16229821; DOI=10.1016/j.bbrc.2005.09.157;
RA   Suo G., Han J., Wang X., Zhang J., Zhao Y., Zhao Y., Dai J.;
RT   "Oct4 pseudogenes are transcribed in cancers.";
RL   Biochem. Biophys. Res. Commun. 337:1047-1051(2005).
RN   [10]
RP   INTERACTION WITH PKM2, SUBCELLULAR LOCATION, DOMAIN, AND INDUCTION.
RX   PubMed=18191611; DOI=10.1016/j.biocel.2007.11.009;
RA   Lee J., Kim H.K., Han Y.-M., Kim J.;
RT   "Pyruvate kinase isozyme type M2 (PKM2) interacts and cooperates with
RT   Oct-4 in regulating transcription.";
RL   Int. J. Biochem. Cell Biol. 40:1043-1054(2008).
CC   -!- FUNCTION: Transcription factor that binds to the octamer motif
CC       (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and
CC       controls the expression of a number of genes involved in embryonic
CC       development such as YES1, FGF4, UTF1 and ZFP206. Critical for
CC       early embryogenesis and for embryonic stem cell pluripotency (By
CC       similarity).
CC   -!- SUBUNIT: Interacts with UBE2I (By similarity). Interacts with
CC       PKM2.
CC   -!- INTERACTION:
CC       Q9UJU5:FOXD3; NbExp=2; IntAct=EBI-475687, EBI-475674;
CC   -!- SUBCELLULAR LOCATION: Nucleus. Note=Expressed in a diffuse and
CC       slightly punctuate pattern.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=A; Synonyms=Oct-3A, Oct3A;
CC         IsoId=Q01860-1; Sequence=Displayed;
CC       Name=B; Synonyms=Oct-3B, Oct3B;
CC         IsoId=Q01860-2; Sequence=VSP_002333;
CC   -!- TISSUE SPECIFICITY: Expressed in developing brain. Highest levels
CC       found in specific cell layers of the cortex, the olfactory bulb,
CC       the hippocampus and the cerebellum. Low levels of expression in
CC       adult tissues.
CC   -!- INDUCTION: Transcriptional activity is positively regulated by
CC       PKM2.
CC   -!- DOMAIN: The POU-specific domain mediates interaction with PKM2.
CC   -!- PTM: Sumoylation enhances the protein stability, DNA binding and
CC       transactivation activity. Sumoylation is required for enhanced
CC       YES1 expression (By similarity).
CC   -!- MISCELLANEOUS: Several pseudogenes of POU5F1 have been described
CC       on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in
CC       chromosomes 8 and 10, are transcribed in cancer tissues but not in
CC       normal ones and may be involved in the regulation of POU5F1 gene
CC       activity in carcinogenesis.
CC   -!- SIMILARITY: Belongs to the POU transcription factor family. Class-
CC       5 subfamily.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC   -!- SIMILARITY: Contains 1 POU-specific domain.
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Oct-4 entry;
CC       URL="http://en.wikipedia.org/wiki/Oct-4";
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DR   EMBL; Z11898; CAA77951.1; -; mRNA.
DR   EMBL; Z11899; CAA77952.1; -; mRNA.
DR   EMBL; AB088113; BAC54946.1; -; Genomic_DNA.
DR   EMBL; AB202105; BAE78630.1; -; Genomic_RNA.
DR   EMBL; AB103619; BAF31281.1; -; Genomic_DNA.
DR   EMBL; BA000025; BAB63311.1; -; Genomic_DNA.
DR   EMBL; AL662833; CAI17407.1; -; Genomic_DNA.
DR   EMBL; AL662833; CAI17408.1; -; Genomic_DNA.
DR   EMBL; AL662844; CAI18331.1; -; Genomic_DNA.
DR   EMBL; AL773544; CAI18485.1; -; Genomic_DNA.
DR   EMBL; AL773544; CAI18486.1; -; Genomic_DNA.
DR   EMBL; BX088580; CAI18708.1; -; Genomic_DNA.
DR   EMBL; BX088580; CAI18709.1; -; Genomic_DNA.
DR   EMBL; CR759815; CAQ07092.1; -; Genomic_DNA.
DR   EMBL; CR759815; CAQ07093.1; -; Genomic_DNA.
DR   EMBL; CR388229; CAQ09226.1; -; Genomic_DNA.
DR   EMBL; CR388229; CAQ09227.1; -; Genomic_DNA.
DR   EMBL; CR847794; CAQ10780.1; -; Genomic_DNA.
DR   EMBL; CR847794; CAQ10781.1; -; Genomic_DNA.
DR   EMBL; CH471081; EAX03367.1; -; Genomic_DNA.
DR   EMBL; CH471081; EAX03368.1; -; Genomic_DNA.
DR   EMBL; BC117435; AAI17436.1; -; mRNA.
DR   EMBL; BC117437; AAI17438.1; -; mRNA.
DR   EMBL; Z21963; CAA79974.1; -; mRNA.
DR   EMBL; Z21964; CAA79975.1; -; mRNA.
DR   EMBL; S81255; AAB35990.1; -; mRNA.
DR   IPI; IPI00219089; -.
DR   IPI; IPI00294177; -.
DR   PIR; S25561; S25561.
DR   PIR; S32652; S32652.
DR   RefSeq; NP_002692.2; -.
DR   RefSeq; NP_976034.3; -.
DR   UniGene; Hs.249184; -.
DR   UniGene; Hs.632482; -.
DR   UniGene; Hs.646545; -.
DR   HSSP; P20263; 1OCP.
DR   IntAct; Q01860; 1.
DR   STRING; Q01860; -.
DR   PhosphoSite; Q01860; -.
DR   PRIDE; Q01860; -.
DR   Ensembl; ENST00000259915; ENSP00000259915; ENSG00000204531; Homo sapiens.
DR   Ensembl; ENST00000376243; ENSP00000365419; ENSG00000206454; Homo sapiens.
DR   Ensembl; ENST00000383524; ENSP00000373016; ENSG00000206454; Homo sapiens.
DR   Ensembl; ENST00000412166; ENSP00000387646; ENSG00000229094; Homo sapiens.
DR   Ensembl; ENST00000419095; ENSP00000413622; ENSG00000235068; Homo sapiens.
DR   Ensembl; ENST00000420806; ENSP00000405122; ENSG00000206454; Homo sapiens.
DR   Ensembl; ENST00000421399; ENSP00000413535; ENSG00000206454; Homo sapiens.
DR   Ensembl; ENST00000423782; ENSP00000398515; ENSG00000237582; Homo sapiens.
DR   Ensembl; ENST00000424624; ENSP00000403592; ENSG00000204531; Homo sapiens.
DR   Ensembl; ENST00000428184; ENSP00000388685; ENSG00000204531; Homo sapiens.
DR   Ensembl; ENST00000429233; ENSP00000391906; ENSG00000233911; Homo sapiens.
DR   Ensembl; ENST00000429314; ENSP00000387619; ENSG00000237582; Homo sapiens.
DR   Ensembl; ENST00000429603; ENSP00000392877; ENSG00000233911; Homo sapiens.
DR   Ensembl; ENST00000430678; ENSP00000401571; ENSG00000237582; Homo sapiens.
DR   Ensembl; ENST00000431280; ENSP00000393786; ENSG00000230336; Homo sapiens.
DR   Ensembl; ENST00000433063; ENSP00000405041; ENSG00000235068; Homo sapiens.
DR   Ensembl; ENST00000433348; ENSP00000412665; ENSG00000230336; Homo sapiens.
DR   Ensembl; ENST00000434616; ENSP00000388842; ENSG00000229094; Homo sapiens.
DR   Ensembl; ENST00000437747; ENSP00000391681; ENSG00000237582; Homo sapiens.
DR   Ensembl; ENST00000439404; ENSP00000402288; ENSG00000229094; Homo sapiens.
DR   Ensembl; ENST00000441888; ENSP00000389359; ENSG00000204531; Homo sapiens.
DR   Ensembl; ENST00000448286; ENSP00000400954; ENSG00000235068; Homo sapiens.
DR   Ensembl; ENST00000448657; ENSP00000416165; ENSG00000204531; Homo sapiens.
DR   Ensembl; ENST00000451077; ENSP00000391507; ENSG00000233911; Homo sapiens.
DR   Ensembl; ENST00000454714; ENSP00000400047; ENSG00000230336; Homo sapiens.
DR   GeneID; 5460; -.
DR   KEGG; hsa:5460; -.
DR   UCSC; uc003nsu.1; human.
DR   UCSC; uc003nsv.1; human.
DR   CTD; 5460; -.
DR   GeneCards; GC06M031240; -.
DR   H-InvDB; HIX0050476; -.
DR   H-InvDB; HIX0058021; -.
DR   H-InvDB; HIX0058196; -.
DR   HGNC; HGNC:9221; POU5F1.
DR   HPA; CAB025600; -.
DR   MIM; 164177; gene.
DR   PharmGKB; PA33545; -.
DR   HOVERGEN; Q01860; -.
DR   OMA; Q01860; LENMFLQ.
DR   NextBio; 21135; -.
DR   Bgee; Q01860; -.
DR   Genevestigator; Q01860; -.
DR   GermOnline; ENSG00000204531; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:transcription factor activity; IDA:HGNC.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0006355; P:regulation of transcription, DNA-dependent; IDA:HGNC.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR001356; Homeobox.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR012287; Homeodomain-rel.
DR   InterPro; IPR013847; POU.
DR   InterPro; IPR015585; POU_dom_5.
DR   InterPro; IPR000327; POU_specific.
DR   Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1.
DR   PANTHER; PTHR11636:SF15; POU_5; 1.
DR   Pfam; PF00046; Homeobox; 1.
DR   Pfam; PF00157; Pou; 1.
DR   PRINTS; PR00028; POUDOMAIN.
DR   ProDom; PD000010; Homeobox; 1.
DR   ProDom; PD000583; POU; 1.
DR   SMART; SM00389; HOX; 1.
DR   SMART; SM00352; POU; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
DR   PROSITE; PS00035; POU_1; 1.
DR   PROSITE; PS00465; POU_2; 1.
DR   PROSITE; PS51179; POU_3; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; DNA-binding; Homeobox;
KW   Isopeptide bond; Nucleus; Polymorphism; Transcription;
KW   Transcription regulation; Ubl conjugation.
FT   CHAIN         1    360       POU domain, class 5, transcription factor
FT                                1.
FT                                /FTId=PRO_0000100747.
FT   DOMAIN      138    212       POU-specific.
FT   DNA_BIND    230    289       Homeobox.
FT   CROSSLNK    123    123       Glycyl lysine isopeptide (Lys-Gly)
FT                                (interchain with G-Cter in SUMO) (By
FT                                similarity).
FT   VAR_SEQ       1    135       MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGP
FT                                PGGPGIGPGVGPGSEVWGIPPCPPPYEFCGGMAYCGPQVGV
FT                                GLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPGAVK
FT                                LEKEKLEQNPEE -> MHFYRLFLGATRRFLNPEWKGEIDN
FT                                WCVYVLTSLLPFKIQ (in isoform B).
FT                                /FTId=VSP_002333.
FT   VARIANT     226    226       L -> F (in dbSNP:rs1150767).
FT                                /FTId=VAR_046203.
FT   VARIANT     322    322       T -> A.
FT                                /FTId=VAR_003774.
FT   VARIANT     351    351       T -> I (in dbSNP:rs1061120).
FT                                /FTId=VAR_046204.
FT   VARIANT     357    357       M -> L.
FT                                /FTId=VAR_003775.
FT   CONFLICT    189    189       A -> G (in Ref. 7; CAA79974).
FT   CONFLICT    220    220       I -> T (in Ref. 7; CAA79974).
FT   CONFLICT    227    227       V -> L (in Ref. 7; CAA79974).
FT   CONFLICT    230    230       R -> G (in Ref. 7; CAA79975).
FT   CONFLICT    240    240       R -> Q (in Ref. 7; CAA79975).
FT   CONFLICT    251    251       Q -> R (in Ref. 7; CAA79975).
FT   CONFLICT    272    272       D -> DVVR (in Ref. 8; AAB35990).
SQ   SEQUENCE   360 AA;  38571 MW;  934C58DAEA0C535B CRC64;
     MAGHLASDFA FSPPPGGGGD GPGGPEPGWV DPRTWLSFQG PPGGPGIGPG VGPGSEVWGI
     PPCPPPYEFC GGMAYCGPQV GVGLVPQGGL ETSQPEGEAG VGVESNSDGA SPEPCTVTPG
     AVKLEKEKLE QNPEESQDIK ALQKELEQFA KLLKQKRITL GYTQADVGLT LGVLFGKVFS
     QTTICRFEAL QLSFKNMCKL RPLLQKWVEE ADNNENLQEI CKAETLVQAR KRKRTSIENR
     VRGNLENLFL QCPKPTLQQI SHIAQQLGLE KDVVRVWFCN RRQKGKRSSS DYAQREDFEA
     AGSPFSGGPV SFPLAPGPHF GTPGYGSPHF TALYSSVPFP EGEAFPPVSV TTLGSPMHSN
//