SOX8_HUMAN
ID SOX8_HUMAN Reviewed; 446 AA.
AC P57073; Q9NZW2;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Transcription factor SOX-8;
GN Name=SOX8 {ECO:0000303|Ref.1, ECO:0000312|HGNC:HGNC:11203};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Cheng Y.-C., Badge R.M., Armour J.A.L., Scotting P.J.;
RT "SOX8: a newly identified human gene expressed in paediatric brain tumours
RT and a candidate for the mental retardation phenotype in ATR-16.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 119-446.
RX PubMed=10662550; DOI=10.1006/geno.1999.6060;
RA Pfeifer D., Poulat F., Holinski-Feder E., Kooy F., Scherer G.;
RT "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is
RT deleted in a patient with ATR-16 syndrome.";
RL Genomics 63:108-116(2000).
RN [6]
RP TRANSACTIVATION REGIONS.
RX PubMed=31194875; DOI=10.1093/nar/gkz523;
RA Haseeb A., Lefebvre V.;
RT "The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite
RT transactivation mechanism.";
RL Nucleic Acids Res. 47:6917-6931(2019).
RN [7]
RP 9AATAD MOTIF.
RX PubMed=34342803; DOI=10.1007/s12015-021-10225-8;
RA Piskacek M., Otasevic T., Repko M., Knight A.;
RT "The 9aaTAD Activation Domains in the Yamanaka Transcription Factors Oct4,
RT Sox2, Myc, and Klf4.";
RL Stem. Cell. Rev. Rep. 17:1934-1936(2021).
CC -!- FUNCTION: Transcription factor that may play a role in central nervous
CC system, limb and facial development. May be involved in male sex
CC determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By
CC similarity). {ECO:0000250|UniProtKB:Q04886}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
CC -!- DOMAIN: The transactivation domains TAM and TAC (for transactivation
CC domain in the middle and at the C-terminus, respectively) are required
CC to contact transcriptional coactivators and basal transcriptional
CC machinery components and thereby induce gene transactivation.
CC {ECO:0000250|UniProtKB:P48436}.
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors.
CC {ECO:0000269|PubMed:34342803}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB75612.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF226675; AAF35886.1; -; mRNA.
DR EMBL; AE006465; AAK61260.1; -; Genomic_DNA.
DR EMBL; Z99757; CAB75612.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC031797; AAH31797.1; -; mRNA.
DR EMBL; AF164104; AAF37424.1; -; mRNA.
DR CCDS; CCDS10428.1; -.
DR RefSeq; NP_055402.2; NM_014587.4.
DR AlphaFoldDB; P57073; -.
DR SMR; P57073; -.
DR BioGRID; 119036; 7.
DR IntAct; P57073; 5.
DR STRING; 9606.ENSP00000293894; -.
DR iPTMnet; P57073; -.
DR PhosphoSitePlus; P57073; -.
DR BioMuta; SOX8; -.
DR DMDM; 10720294; -.
DR jPOST; P57073; -.
DR MassIVE; P57073; -.
DR MaxQB; P57073; -.
DR PaxDb; P57073; -.
DR PeptideAtlas; P57073; -.
DR PRIDE; P57073; -.
DR ProteomicsDB; 56981; -.
DR Antibodypedia; 9438; 361 antibodies from 36 providers.
DR DNASU; 30812; -.
DR Ensembl; ENST00000293894.4; ENSP00000293894.3; ENSG00000005513.10.
DR GeneID; 30812; -.
DR KEGG; hsa:30812; -.
DR MANE-Select; ENST00000293894.4; ENSP00000293894.3; NM_014587.5; NP_055402.2.
DR UCSC; uc002ckn.3; human.
DR CTD; 30812; -.
DR DisGeNET; 30812; -.
DR GeneCards; SOX8; -.
DR HGNC; HGNC:11203; SOX8.
DR HPA; ENSG00000005513; Tissue enriched (brain).
DR MIM; 605923; gene.
DR neXtProt; NX_P57073; -.
DR OpenTargets; ENSG00000005513; -.
DR PharmGKB; PA36040; -.
DR VEuPathDB; HostDB:ENSG00000005513; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000159920; -.
DR HOGENOM; CLU_031800_0_0_1; -.
DR InParanoid; P57073; -.
DR OMA; MLNMTEE; -.
DR OrthoDB; 782373at2759; -.
DR PhylomeDB; P57073; -.
DR PathwayCommons; P57073; -.
DR SignaLink; P57073; -.
DR BioGRID-ORCS; 30812; 8 hits in 1087 CRISPR screens.
DR ChiTaRS; SOX8; human.
DR GeneWiki; SOX8; -.
DR GenomeRNAi; 30812; -.
DR Pharos; P57073; Tbio.
DR PRO; PR:P57073; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; P57073; protein.
DR Bgee; ENSG00000005513; Expressed in inferior vagus X ganglion and 137 other tissues.
DR Genevisible; P57073; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0140297; F:DNA-binding transcription factor binding; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0060612; P:adipose tissue development; ISS:UniProtKB.
DR GO; GO:0060018; P:astrocyte fate commitment; IEA:Ensembl.
DR GO; GO:0045165; P:cell fate commitment; ISS:UniProtKB.
DR GO; GO:0048469; P:cell maturation; IEA:Ensembl.
DR GO; GO:0048484; P:enteric nervous system development; ISS:UniProtKB.
DR GO; GO:0045444; P:fat cell differentiation; ISS:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; ISS:UniProtKB.
DR GO; GO:0008584; P:male gonad development; ISS:UniProtKB.
DR GO; GO:0072289; P:metanephric nephron tubule formation; ISS:UniProtKB.
DR GO; GO:0061138; P:morphogenesis of a branching epithelium; ISS:UniProtKB.
DR GO; GO:0002009; P:morphogenesis of an epithelium; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; ISS:UniProtKB.
DR GO; GO:0045662; P:negative regulation of myoblast differentiation; ISS:UniProtKB.
DR GO; GO:0046533; P:negative regulation of photoreceptor cell differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0014032; P:neural crest cell development; IBA:GO_Central.
DR GO; GO:0001755; P:neural crest cell migration; ISS:UniProtKB.
DR GO; GO:0048709; P:oligodendrocyte differentiation; ISS:UniProtKB.
DR GO; GO:0001649; P:osteoblast differentiation; ISS:UniProtKB.
DR GO; GO:0007422; P:peripheral nervous system development; ISS:UniProtKB.
DR GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:0014015; P:positive regulation of gliogenesis; ISS:UniProtKB.
DR GO; GO:0090184; P:positive regulation of kidney development; ISS:UniProtKB.
DR GO; GO:0033690; P:positive regulation of osteoblast proliferation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0010817; P:regulation of hormone levels; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072034; P:renal vesicle induction; ISS:UniProtKB.
DR GO; GO:0060041; P:retina development in camera-type eye; ISS:UniProtKB.
DR GO; GO:0060221; P:retinal rod cell differentiation; ISS:UniProtKB.
DR GO; GO:0060009; P:Sertoli cell development; ISS:UniProtKB.
DR GO; GO:0007165; P:signal transduction; ISS:UniProtKB.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR GO; GO:0072197; P:ureter morphogenesis; ISS:UniProtKB.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR031265; SOX-8.
DR InterPro; IPR022151; Sox_N.
DR PANTHER; PTHR45803:SF2; PTHR45803:SF2; 1.
DR Pfam; PF00505; HMG_box; 1.
DR Pfam; PF12444; Sox_N; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 2: Evidence at transcript level;
KW DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..446
FT /note="Transcription factor SOX-8"
FT /id="PRO_0000048733"
FT DNA_BIND 102..170
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 58..100
FT /note="Dimerization (DIM)"
FT /evidence="ECO:0000303|PubMed:31194875"
FT REGION 155..259
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 224..298
FT /note="Transactivation domain (TAM)"
FT /evidence="ECO:0000303|PubMed:31194875"
FT REGION 318..378
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 335..446
FT /note="Transactivation domain (TAC)"
FT /evidence="ECO:0000303|PubMed:31194875"
FT REGION 425..446
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 400..408
FT /note="9aaTAD"
FT /evidence="ECO:0000269|PubMed:34342803"
FT COMPBIAS 9..28
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 155..184
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ 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
