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Transcription factor SOX-8

 SOX8_HUMAN              Reviewed;         446 AA.
P57073; Q9NZW2;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
01-DEC-2000, sequence version 1.
12-SEP-2018, entry version 140.
RecName: Full=Transcription factor SOX-8;
Name=SOX8;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
Cheng Y.-C., Badge R.M., Armour J.A.L., Scotting P.J.;
"SOX8: a newly identified human gene expressed in paediatric brain
tumours and a candidate for the mental retardation phenotype in ATR-
16.";
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11157797; DOI=10.1093/hmg/10.4.339;
Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K.,
Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J.,
Higgs D.R.;
"Sequence, structure and pathology of the fully annotated terminal 2
Mb of the short arm of human chromosome 16.";
Hum. Mol. Genet. 10:339-352(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15616553; DOI=10.1038/nature03187;
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X.,
Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A.,
Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.,
Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L.,
Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A.,
Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D.,
Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J.,
Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I.,
Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W.,
Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A.,
Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S.,
Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L.,
Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A.,
Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L.,
Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N.,
Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M.,
Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L.,
Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D.,
Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P.,
Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M.,
Rubin E.M., Pennacchio L.A.;
"The sequence and analysis of duplication-rich human chromosome 16.";
Nature 432:988-994(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 119-446.
PubMed=10662550; DOI=10.1006/geno.1999.6060;
Pfeifer D., Poulat F., Holinski-Feder E., Kooy F., Scherer G.;
"The SOX8 gene is located within 700 kb of the tip of chromosome 16p
and is deleted in a patient with ATR-16 syndrome.";
Genomics 63:108-116(2000).
-!- FUNCTION: May play a role in central nervous system, limb and
facial development. May be involved in male sex determination.
Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity).
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00267}.
-!- SEQUENCE CAUTION:
Sequence=CAB75612.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AF226675; AAF35886.1; -; mRNA.
EMBL; AE006465; AAK61260.1; -; Genomic_DNA.
EMBL; Z99757; CAB75612.1; ALT_INIT; Genomic_DNA.
EMBL; BC031797; AAH31797.1; -; mRNA.
EMBL; AF164104; AAF37424.1; -; mRNA.
CCDS; CCDS10428.1; -.
RefSeq; NP_055402.2; NM_014587.4.
UniGene; Hs.243678; -.
ProteinModelPortal; P57073; -.
SMR; P57073; -.
BioGrid; 119036; 6.
IntAct; P57073; 4.
STRING; 9606.ENSP00000293894; -.
iPTMnet; P57073; -.
PhosphoSitePlus; P57073; -.
BioMuta; SOX8; -.
DMDM; 10720294; -.
EPD; P57073; -.
MaxQB; P57073; -.
PaxDb; P57073; -.
PeptideAtlas; P57073; -.
PRIDE; P57073; -.
ProteomicsDB; 56981; -.
Ensembl; ENST00000293894; ENSP00000293894; ENSG00000005513.
GeneID; 30812; -.
KEGG; hsa:30812; -.
UCSC; uc002ckn.3; human.
CTD; 30812; -.
DisGeNET; 30812; -.
EuPathDB; HostDB:ENSG00000005513.9; -.
GeneCards; SOX8; -.
HGNC; HGNC:11203; SOX8.
HPA; HPA041640; -.
HPA; HPA058665; -.
MIM; 605923; gene.
neXtProt; NX_P57073; -.
OpenTargets; ENSG00000005513; -.
PharmGKB; PA36040; -.
eggNOG; KOG0527; Eukaryota.
eggNOG; ENOG410XT0K; LUCA.
GeneTree; ENSGT00760000118988; -.
HOGENOM; HOG000108876; -.
HOVERGEN; HBG002061; -.
InParanoid; P57073; -.
KO; K09270; -.
OMA; NWDQPVY; -.
OrthoDB; EOG091G0EKD; -.
PhylomeDB; P57073; -.
ChiTaRS; SOX8; human.
GeneWiki; SOX8; -.
GenomeRNAi; 30812; -.
PRO; PR:P57073; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000005513; Expressed in 149 organ(s), highest expression level in substantia nigra.
CleanEx; HS_SOX8; -.
Genevisible; P57073; HS.
GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
GO; GO:0044798; C:nuclear transcription factor complex; IEA:Ensembl.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
GO; GO:0046982; F:protein heterodimerization activity; IEA:Ensembl.
GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0008134; F:transcription factor binding; IEA:Ensembl.
GO; GO:0060612; P:adipose tissue development; ISS:UniProtKB.
GO; GO:0060018; P:astrocyte fate commitment; IEA:Ensembl.
GO; GO:0045165; P:cell fate commitment; ISS:UniProtKB.
GO; GO:0048469; P:cell maturation; IEA:Ensembl.
GO; GO:0048484; P:enteric nervous system development; ISS:UniProtKB.
GO; GO:0045444; P:fat cell differentiation; ISS:UniProtKB.
GO; GO:0001701; P:in utero embryonic development; ISS:UniProtKB.
GO; GO:0008584; P:male gonad development; ISS:UniProtKB.
GO; GO:0072289; P:metanephric nephron tubule formation; ISS:UniProtKB.
GO; GO:0061138; P:morphogenesis of a branching epithelium; ISS:UniProtKB.
GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
GO; GO:0045662; P:negative regulation of myoblast differentiation; ISS:UniProtKB.
GO; GO:0046533; P:negative regulation of photoreceptor cell differentiation; IEA:Ensembl.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0001755; P:neural crest cell migration; ISS:UniProtKB.
GO; GO:0048709; P:oligodendrocyte differentiation; ISS:UniProtKB.
GO; GO:0001649; P:osteoblast differentiation; ISS:UniProtKB.
GO; GO:0007422; P:peripheral nervous system development; ISS:UniProtKB.
GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
GO; GO:0014015; P:positive regulation of gliogenesis; ISS:UniProtKB.
GO; GO:0090184; P:positive regulation of kidney development; ISS:UniProtKB.
GO; GO:0033690; P:positive regulation of osteoblast proliferation; ISS:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0010817; P:regulation of hormone levels; ISS:UniProtKB.
GO; GO:0072034; P:renal vesicle induction; ISS:UniProtKB.
GO; GO:0060041; P:retina development in camera-type eye; ISS:UniProtKB.
GO; GO:0060221; P:retinal rod cell differentiation; ISS:UniProtKB.
GO; GO:0060009; P:Sertoli cell development; ISS:UniProtKB.
GO; GO:0007165; P:signal transduction; ISS:UniProtKB.
GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0072197; P:ureter morphogenesis; ISS:UniProtKB.
Gene3D; 1.10.30.10; -; 1.
InterPro; IPR009071; HMG_box_dom.
InterPro; IPR036910; HMG_box_dom_sf.
InterPro; IPR031265; SOX-8.
InterPro; IPR022151; Sox_N.
PANTHER; PTHR10270:SF20; PTHR10270:SF20; 1.
Pfam; PF00505; HMG_box; 1.
Pfam; PF12444; Sox_N; 1.
SMART; SM00398; HMG; 1.
SUPFAM; SSF47095; SSF47095; 1.
PROSITE; PS50118; HMG_BOX_2; 1.
2: Evidence at transcript level;
Complete proteome; DNA-binding; Nucleus; Reference proteome;
Transcription; Transcription regulation.
CHAIN 1 446 Transcription factor SOX-8.
/FTId=PRO_0000048733.
DNA_BIND 102 170 HMG box. {ECO:0000255|PROSITE-
ProRule:PRU00267}.
SEQUENCE 446 AA; 47314 MW; AE453359051A6DB3 CRC64;
MLDMSEARSQ PPCSPSGTAS SMSHVEDSDS DAPPSPAGSE GLGRAGVAVG GARGDPAEAA
DERFPACIRD AVSQVLKGYD WSLVPMPVRG GGGGALKAKP HVKRPMNAFM VWAQAARRKL
ADQYPHLHNA ELSKTLGKLW RLLSESEKRP FVEEAERLRV QHKKDHPDYK YQPRRRKSAK
AGHSDSDSGA ELGPHPGGGA VYKAEAGLGD GHHHGDHTGQ THGPPTPPTT PKTELQQAGA
KPELKLEGRR PVDSGRQNID FSNVDISELS SEVMGTMDAF DVHEFDQYLP LGGPAPPEPG
QAYGGAYFHA GASPVWAHKS APSASASPTE TGPPRPHIKT EQPSPGHYGD QPRGSPDYGS
CSGQSSATPA APAGPFAGSQ GDYGDLQASS YYGAYPGYAP GLYQYPCFHS PRRPYASPLL
NGLALPPAHS PTSHWDQPVY TTLTRP


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