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Transcription factor SOX-9

 SOX9_HUMAN              Reviewed;         509 AA.
P48436; Q53Y80;
01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
01-FEB-1996, sequence version 1.
22-NOV-2017, entry version 181.
RecName: Full=Transcription factor SOX-9 {ECO:0000305};
Name=SOX9 {ECO:0000312|HGNC:HGNC:11204};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
PubMed=7990924; DOI=10.1038/372525a0;
Foster J.W., Dominguez-Steglich M.A., Guioli S., Kowk G., Weller P.A.,
Stevanovic M., Weissenbach J., Mansour S., Young I.D.,
Goodfellow P.N., Schafer A.J.;
"Campomelic dysplasia and autosomal sex reversal caused by mutations
in an SRY-related gene.";
Nature 372:525-530(1994).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=8001137; DOI=10.1016/0092-8674(94)90041-8;
Wagner T., Wirth J., Meyer J., Zabel B., Held M., Zimmer J.,
Pasantes J., Bricarelli F.D., Keutel J., Hustert E., Wolf U.,
Tommerup N., Schempp W., Scherer G.;
"Autosomal sex reversal and campomelic dysplasia are caused by
mutations in and around the SRY-related gene SOX9.";
Cell 79:1111-1120(1994).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye, and PNS;
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).
[6]
INVOLVEMENT IN SRXX2.
PubMed=21208124; DOI=10.1056/NEJMc1010311;
Cox J.J., Willatt L., Homfray T., Woods C.G.;
"A SOX9 duplication and familial 46,XX developmental testicular
disorder.";
N. Engl. J. Med. 364:91-93(2011).
[7]
INVOLVEMENT IN SRXY10.
PubMed=25604083; DOI=10.1136/jmedgenet-2014-102864;
Kim G.J., Sock E., Buchberger A., Just W., Denzer F., Hoepffner W.,
German J., Cole T., Mann J., Seguin J.H., Zipf W., Costigan C.,
Schmiady H., Rostasy M., Kramer M., Kaltenbach S., Roesler B.,
Georg I., Troppmann E., Teichmann A.C., Salfelder A., Widholz S.A.,
Wieacker P., Hiort O., Camerino G., Radi O., Wegner M., Arnold H.H.,
Scherer G.;
"Copy number variation of two separate regulatory regions upstream of
SOX9 causes isolated 46,XY or 46,XX disorder of sex development.";
J. Med. Genet. 52:240-247(2015).
[8]
REVIEW ON VARIANTS.
PubMed=9143916;
DOI=10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0;
Cameron F.J., Sinclair A.H.;
"Mutations in SRY and SOX9: testis-determining genes.";
Hum. Mutat. 9:388-395(1997).
[9]
VARIANTS CMD1 LEU-112 AND VAL-119.
PubMed=7485151;
Kwok C., Weller P.A., Guioli S., Foster J.W., Mansour S., Zuffardi O.,
Punnett H.H., Dominguez-Steglich M.A., Brook J.D., Young I.D.,
Goodfellow P.N., Schafer A.J.;
"Mutations in SOX9, the gene responsible for Campomelic dysplasia and
autosomal sex reversal.";
Am. J. Hum. Genet. 57:1028-1036(1995).
[10]
VARIANTS CMD1 LEU-108; ARG-143; PRO-152 AND ARG-170.
PubMed=9002675; DOI=10.1093/hmg/6.1.91;
Meyer J., Suedbeck P., Held M., Wagner T., Schmitz M.L.,
Bricarelli F.D., Eggermont E., Friedrich U., Haas O.A., Kobelt A.,
Leroy J.G., van Maldergem L., Michel E., Mitulla B., Pfeiffer R.A.,
Schinzel A., Schmidt H., Scherer G.;
"Mutational analysis of the SOX9 gene in campomelic dysplasia and
autosomal sex reversal: lack of genotype/phenotype correlations.";
Hum. Mol. Genet. 6:91-98(1997).
[11]
VARIANT CMD1 SER-112.
PubMed=9452059;
Goji K., Nishijima E., Tsugawa C., Nishio H., Pokharel R.K.,
Matsuo M.;
"Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY
male resulted in campomelic dysplasia and severe defect in
masculinization.";
Hum. Mutat. Suppl. 1:S114-S116(1998).
[12]
VARIANTS CMD1 LEU-112; VAL-119; TYR-165 AND ARG-170, AND 3D-STRUCTURE
MODELING.
PubMed=10446171; DOI=10.1074/jbc.274.34.24023;
McDowall S., Argentaro A., Ranganathan S., Weller P., Mertin S.,
Mansour S., Tolmie J., Harley V.;
"Functional and structural studies of wild type SOX9 and mutations
causing campomelic dysplasia.";
J. Biol. Chem. 274:24023-24030(1999).
[13]
VARIANT CMD1 GLU-173.
PubMed=10951468;
DOI=10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.3.CO;2-X;
Thong M.-K., Scherer G., Kozlowski K., Haan E., Morris L.;
"Acampomelic campomelic dysplasia with SOX9 mutation.";
Am. J. Med. Genet. 93:421-425(2000).
[14]
VARIANT CMD1 TYR-165.
PubMed=11754051; DOI=10.1002/ajmg.10033;
Moog U., Jansen N.J., Scherer G., Schrander-Stumpel C.T.;
"Acampomelic campomelic syndrome.";
Am. J. Med. Genet. 104:239-245(2001).
[15]
VARIANTS CMD1 LEU-154 AND THR-158, AND CHARACTERIZATION OF VARIANTS
CMD1 LEU-154 AND THR-158.
PubMed=11323423; DOI=10.1074/jbc.M101278200;
Preiss S., Argentaro A., Clayton A., John A., Jans D.A., Ogata T.,
Nagai T., Barroso I., Schafer A.J., Harley V.R.;
"Compound effects of point mutations causing campomelic
dysplasia/autosomal sex reversal upon SOX9 structure, nuclear
transport, DNA binding, and transcriptional activation.";
J. Biol. Chem. 276:27864-27872(2001).
[16]
VARIANT CMD1 GLU-76.
PubMed=12783851; DOI=10.1093/hmg/ddg158;
Sock E., Pagon R.A., Keymolen K., Lissens W., Wegner M., Scherer G.;
"Loss of DNA-dependent dimerization of the transcription factor SOX9
as a cause for campomelic dysplasia.";
Hum. Mol. Genet. 12:1439-1447(2003).
[17]
VARIANTS CMD1 28-GLU--PRO-509 DEL AND PRO-169.
PubMed=19033726; DOI=10.1159/000176299;
Massardier J., Roth P., Michel-Calemard L., Rudigoz R.C., Bouvier R.,
Dijoud F., Arnould P., Combourieu D., Gaucherand P.;
"Campomelic dysplasia: echographic suspicion in the first trimester of
pregnancy and final diagnosis of two cases.";
Fetal Diagn. Ther. 24:452-457(2008).
[18]
VARIANTS CMD1 THR-113 AND LEU-170.
PubMed=19921652; DOI=10.1002/ajmg.a.33107;
Wada Y., Nishimura G., Nagai T., Sawai H., Yoshikata M., Miyagawa S.,
Hanita T., Sato S., Hasegawa T., Ishikawa S., Ogata T.;
"Mutation analysis of SOX9 and single copy number variant analysis of
the upstream region in eight patients with campomelic dysplasia and
acampomelic campomelic dysplasia.";
Am. J. Med. Genet. A 149:2882-2885(2009).
[19]
VARIANTS CMD1 VAL-113 AND GLN-165, AND CHARACTERIZATION OF VARIANTS
CMD1 VAL-113 AND GLN-165.
PubMed=20513132; DOI=10.1002/humu.21238;
Staffler A., Hammel M., Wahlbuhl M., Bidlingmaier C., Flemmer A.W.,
Pagel P., Nicolai T., Wegner M., Holzinger A.;
"Heterozygous SOX9 mutations allowing for residual DNA-binding and
transcriptional activation lead to the acampomelic variant of
campomelic dysplasia.";
Hum. Mutat. 31:E1436-E1444(2010).
[20]
VARIANT CMD1 GLN-169, CHARACTERIZATION OF VARIANT CMD1 GLN-169,
CHARACTERIZATION OF VARIANT PRO-169, AND FUNCTION.
PubMed=24038782; DOI=10.1002/ajmg.a.36134;
Matsushita M., Kitoh H., Kaneko H., Mishima K., Kadono I.,
Ishiguro N., Nishimura G.;
"A novel SOX9 H169Q mutation in a family with overlapping phenotype of
mild campomelic dysplasia and small patella syndrome.";
Am. J. Med. Genet. A 161A:2528-2534(2013).
-!- FUNCTION: Transcription factor that plays an important role in the
normal skeletal development (PubMed:24038782). May regulate the
expression of other genes involved in chondrogenesis by acting as
a transcription factor for these genes.
{ECO:0000269|PubMed:24038782}.
-!- INTERACTION:
Q3U108:Arid5a (xeno); NbExp=3; IntAct=EBI-3920028, EBI-14022639;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00267}.
-!- DISEASE: Campomelic dysplasia (CMD1) [MIM:114290]: A rare, often
lethal, osteochondrodysplasia characterized by congenital bowing
and angulation of long bones. Other skeletal defects include
unusually small scapula, deformed pelvis and spine, and a missing
pair of ribs. Craniofacial and ear defects are common. Most
patients die soon after birth due to respiratory distress which
has been attributed to hypoplasia of the tracheobronchial
cartilage and small thoracic cage. Up to two-thirds of affected XY
individuals have genital defects or may develop as phenotypic
females. {ECO:0000269|PubMed:10446171,
ECO:0000269|PubMed:10951468, ECO:0000269|PubMed:11323423,
ECO:0000269|PubMed:11754051, ECO:0000269|PubMed:12783851,
ECO:0000269|PubMed:19033726, ECO:0000269|PubMed:19921652,
ECO:0000269|PubMed:20513132, ECO:0000269|PubMed:24038782,
ECO:0000269|PubMed:7485151, ECO:0000269|PubMed:9002675,
ECO:0000269|PubMed:9452059}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: 46,XX sex reversal 2 (SRXX2) [MIM:278850]: A condition in
which male gonads develop in a genetic female (female to male sex
reversal). {ECO:0000269|PubMed:21208124}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: 46,XY sex reversal 10 (SRXY10) [MIM:616425]: A disorder
of sex development. Affected individuals have a 46,XY karyotype,
show gonadal dysgenesis with streak gonads, look like normal
females at birth, do not develop secondary sexual characteristics
at puberty and do not menstruate. {ECO:0000269|PubMed:25604083}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
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EMBL; Z46629; CAA86598.1; -; mRNA.
EMBL; S74506; AAB32870.1; -; Genomic_DNA.
EMBL; S74504; AAB32870.1; JOINED; Genomic_DNA.
EMBL; S74505; AAB32870.1; JOINED; Genomic_DNA.
EMBL; BT006875; AAP35521.1; -; mRNA.
EMBL; CH471099; EAW89102.1; -; Genomic_DNA.
EMBL; BC007951; AAH07951.1; -; mRNA.
EMBL; BC056420; AAH56420.1; -; mRNA.
CCDS; CCDS11689.1; -.
PIR; A55204; A55204.
RefSeq; NP_000337.1; NM_000346.3.
UniGene; Hs.647409; -.
PDB; 1S9M; Model; -; A=101-177.
PDB; 1SX9; Model; -; A=101-177.
PDB; 4EUW; X-ray; 2.77 A; A=98-181.
PDBsum; 1S9M; -.
PDBsum; 1SX9; -.
PDBsum; 4EUW; -.
ProteinModelPortal; P48436; -.
SMR; P48436; -.
BioGrid; 112545; 19.
DIP; DIP-61319N; -.
ELM; P48436; -.
IntAct; P48436; 3.
STRING; 9606.ENSP00000245479; -.
iPTMnet; P48436; -.
PhosphoSitePlus; P48436; -.
BioMuta; SOX9; -.
DMDM; 1351096; -.
EPD; P48436; -.
MaxQB; P48436; -.
PaxDb; P48436; -.
PeptideAtlas; P48436; -.
PRIDE; P48436; -.
DNASU; 6662; -.
Ensembl; ENST00000245479; ENSP00000245479; ENSG00000125398.
GeneID; 6662; -.
KEGG; hsa:6662; -.
UCSC; uc002jiw.4; human.
CTD; 6662; -.
DisGeNET; 6662; -.
EuPathDB; HostDB:ENSG00000125398.5; -.
GeneCards; SOX9; -.
GeneReviews; SOX9; -.
HGNC; HGNC:11204; SOX9.
HPA; CAB022456; -.
HPA; CAB068240; -.
HPA; HPA001758; -.
MalaCards; SOX9; -.
MIM; 114290; phenotype.
MIM; 278850; phenotype.
MIM; 608160; gene.
MIM; 616425; phenotype.
neXtProt; NX_P48436; -.
OpenTargets; ENSG00000125398; -.
Orphanet; 2138; 46,XX ovotesticular disorder of sex development.
Orphanet; 393; 46,XX testicular disorder of sex development.
Orphanet; 140; Campomelic dysplasia.
Orphanet; 718; Isolated Pierre Robin syndrome.
PharmGKB; PA36041; -.
eggNOG; KOG0527; Eukaryota.
eggNOG; ENOG410XT0K; LUCA.
GeneTree; ENSGT00760000118988; -.
HOGENOM; HOG000108876; -.
HOVERGEN; HBG002061; -.
InParanoid; P48436; -.
KO; K18435; -.
OMA; GTEQTHI; -.
OrthoDB; EOG091G0EKD; -.
PhylomeDB; P48436; -.
Reactome; R-HSA-3769402; Deactivation of the beta-catenin transactivating complex.
Reactome; R-HSA-8878166; Transcriptional regulation by RUNX2.
SignaLink; P48436; -.
SIGNOR; P48436; -.
ChiTaRS; SOX9; human.
GeneWiki; SOX9; -.
GenomeRNAi; 6662; -.
PRO; PR:P48436; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000125398; -.
CleanEx; HS_SOX9; -.
Genevisible; P48436; HS.
GO; GO:0044798; C:nuclear transcription factor complex; IEA:Ensembl.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0043234; C:protein complex; IDA:UniProtKB.
GO; GO:0008013; F:beta-catenin binding; IEA:Ensembl.
GO; GO:0043425; F:bHLH transcription factor binding; IEA:Ensembl.
GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
GO; GO:0001046; F:core promoter sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0035326; F:enhancer binding; IDA:UniProtKB.
GO; GO:0001158; F:enhancer sequence-specific DNA binding; ISS:UniProtKB.
GO; GO:0097157; F:pre-mRNA intronic binding; IEA:Ensembl.
GO; GO:0046982; F:protein heterodimerization activity; IEA:Ensembl.
GO; GO:0034236; F:protein kinase A catalytic subunit binding; IPI:UniProtKB.
GO; GO:0004672; F:protein kinase activity; ISS:UniProtKB.
GO; GO:0003705; F:transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; IDA:UniProtKB.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:UniProtKB.
GO; GO:0060018; P:astrocyte fate commitment; IEA:Ensembl.
GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEA:Ensembl.
GO; GO:0060532; P:bronchus cartilage development; IEA:Ensembl.
GO; GO:0019933; P:cAMP-mediated signaling; IDA:UniProtKB.
GO; GO:0001502; P:cartilage condensation; ISS:UniProtKB.
GO; GO:0051216; P:cartilage development; ISS:UniProtKB.
GO; GO:0001708; P:cell fate specification; ISS:UniProtKB.
GO; GO:0098609; P:cell-cell adhesion; IEA:Ensembl.
GO; GO:0071773; P:cellular response to BMP stimulus; ISS:UniProtKB.
GO; GO:0071364; P:cellular response to epidermal growth factor stimulus; ISS:UniProtKB.
GO; GO:0071504; P:cellular response to heparin; ISS:UniProtKB.
GO; GO:0071347; P:cellular response to interleukin-1; IEP:UniProtKB.
GO; GO:0071260; P:cellular response to mechanical stimulus; ISS:UniProtKB.
GO; GO:0071300; P:cellular response to retinoic acid; IEP:UniProtKB.
GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IDA:UniProtKB.
GO; GO:0002062; P:chondrocyte differentiation; ISS:UniProtKB.
GO; GO:0003413; P:chondrocyte differentiation involved in endochondral bone morphogenesis; IMP:UniProtKB.
GO; GO:0003415; P:chondrocyte hypertrophy; ISS:UniProtKB.
GO; GO:0006338; P:chromatin remodeling; IDA:UniProtKB.
GO; GO:0090103; P:cochlea morphogenesis; ISS:UniProtKB.
GO; GO:0007010; P:cytoskeleton organization; IEA:Ensembl.
GO; GO:0003203; P:endocardial cushion morphogenesis; ISS:UniProtKB.
GO; GO:0031018; P:endocrine pancreas development; IEA:Ensembl.
GO; GO:0007173; P:epidermal growth factor receptor signaling pathway; ISS:UniProtKB.
GO; GO:0060517; P:epithelial cell proliferation involved in prostatic bud elongation; ISS:UniProtKB.
GO; GO:0001837; P:epithelial to mesenchymal transition; ISS:UniProtKB.
GO; GO:0060441; P:epithelial tube branching involved in lung morphogenesis; IEA:Ensembl.
GO; GO:0070371; P:ERK1 and ERK2 cascade; ISS:UniProtKB.
GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
GO; GO:0001942; P:hair follicle development; ISS:UniProtKB.
GO; GO:0070384; P:Harderian gland development; IEA:Ensembl.
GO; GO:0003170; P:heart valve development; ISS:UniProtKB.
GO; GO:0003188; P:heart valve formation; IEA:Ensembl.
GO; GO:0003179; P:heart valve morphogenesis; ISS:UniProtKB.
GO; GO:0060729; P:intestinal epithelial structure maintenance; ISS:UniProtKB.
GO; GO:0035622; P:intrahepatic bile duct development; IEA:Ensembl.
GO; GO:0032808; P:lacrimal gland development; IEA:Ensembl.
GO; GO:0060174; P:limb bud formation; IEA:Ensembl.
GO; GO:0060487; P:lung epithelial cell differentiation; IEA:Ensembl.
GO; GO:0061145; P:lung smooth muscle development; IEA:Ensembl.
GO; GO:0019100; P:male germ-line sex determination; ISS:UniProtKB.
GO; GO:0008584; P:male gonad development; IMP:UniProtKB.
GO; GO:0030879; P:mammary gland development; IEA:Ensembl.
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; IMP:UniProtKB.
GO; GO:0070168; P:negative regulation of biomineral tissue development; ISS:UniProtKB.
GO; GO:0030502; P:negative regulation of bone mineralization; IEA:Ensembl.
GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; ISS:UniProtKB.
GO; GO:0032331; P:negative regulation of chondrocyte differentiation; ISS:UniProtKB.
GO; GO:0030857; P:negative regulation of epithelial cell differentiation; IEA:Ensembl.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; ISS:UniProtKB.
GO; GO:0002683; P:negative regulation of immune system process; ISS:UniProtKB.
GO; GO:2001054; P:negative regulation of mesenchymal cell apoptotic process; IEA:Ensembl.
GO; GO:0045662; P:negative regulation of myoblast differentiation; ISS:UniProtKB.
GO; GO:0030279; P:negative regulation of ossification; ISS:UniProtKB.
GO; GO:0046533; P:negative regulation of photoreceptor cell differentiation; ISS:UniProtKB.
GO; GO:1902894; P:negative regulation of pri-miRNA transcription from RNA polymerase II promoter; IDA:BHF-UCL.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IMP:UniProtKB.
GO; GO:0014032; P:neural crest cell development; IEA:Ensembl.
GO; GO:0014036; P:neural crest cell fate specification; ISS:UniProtKB.
GO; GO:0007219; P:Notch signaling pathway; IEA:Ensembl.
GO; GO:0030903; P:notochord development; IEA:Ensembl.
GO; GO:0006334; P:nucleosome assembly; IDA:UniProtKB.
GO; GO:0048709; P:oligodendrocyte differentiation; IEA:Ensembl.
GO; GO:0001503; P:ossification; IEA:Ensembl.
GO; GO:0030916; P:otic vesicle formation; ISS:UniProtKB.
GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
GO; GO:0061036; P:positive regulation of cartilage development; IDA:UniProtKB.
GO; GO:0008284; P:positive regulation of cell proliferation; IMP:UniProtKB.
GO; GO:2000138; P:positive regulation of cell proliferation involved in heart morphogenesis; IEA:Ensembl.
GO; GO:0032332; P:positive regulation of chondrocyte differentiation; IDA:UniProtKB.
GO; GO:0030858; P:positive regulation of epithelial cell differentiation; ISS:UniProtKB.
GO; GO:0010634; P:positive regulation of epithelial cell migration; IMP:UniProtKB.
GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IEP:UniProtKB.
GO; GO:1901203; P:positive regulation of extracellular matrix assembly; IEA:Ensembl.
GO; GO:0090184; P:positive regulation of kidney development; ISS:UniProtKB.
GO; GO:2000020; P:positive regulation of male gonad development; IDA:UniProtKB.
GO; GO:0002053; P:positive regulation of mesenchymal cell proliferation; ISS:UniProtKB.
GO; GO:2000741; P:positive regulation of mesenchymal stem cell differentiation; IDA:UniProtKB.
GO; GO:0014068; P:positive regulation of phosphatidylinositol 3-kinase signaling; ISS:UniProtKB.
GO; GO:0045732; P:positive regulation of protein catabolic process; IEA:Ensembl.
GO; GO:0001934; P:positive regulation of protein phosphorylation; ISS:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0030850; P:prostate gland development; IEP:UniProtKB.
GO; GO:0006461; P:protein complex assembly; IDA:UniProtKB.
GO; GO:0043491; P:protein kinase B signaling; IEA:Ensembl.
GO; GO:0034504; P:protein localization to nucleus; IEA:Ensembl.
GO; GO:0042981; P:regulation of apoptotic process; ISS:UniProtKB.
GO; GO:0061046; P:regulation of branching involved in lung morphogenesis; IEA:Ensembl.
GO; GO:0030155; P:regulation of cell adhesion; IEA:Ensembl.
GO; GO:0010564; P:regulation of cell cycle process; IMP:UniProtKB.
GO; GO:0042127; P:regulation of cell proliferation; ISS:UniProtKB.
GO; GO:0060784; P:regulation of cell proliferation involved in tissue homeostasis; ISS:UniProtKB.
GO; GO:2000794; P:regulation of epithelial cell proliferation involved in lung morphogenesis; IEA:Ensembl.
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; IEA:Ensembl.
GO; GO:0060008; P:Sertoli cell differentiation; ISS:UniProtKB.
GO; GO:0007165; P:signal transduction; ISS:UniProtKB.
GO; GO:0001501; P:skeletal system development; IMP:UniProtKB.
GO; GO:0035019; P:somatic stem cell population maintenance; ISS:UniProtKB.
GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
GO; GO:0001894; P:tissue homeostasis; ISS:UniProtKB.
GO; GO:0060534; P:trachea cartilage development; IEA:Ensembl.
GO; GO:0072197; P:ureter morphogenesis; IEA:Ensembl.
GO; GO:0072193; P:ureter smooth muscle cell differentiation; IEA:Ensembl.
GO; GO:0072190; P:ureter urothelium development; IEA:Ensembl.
Gene3D; 1.10.30.10; -; 1.
InterPro; IPR009071; HMG_box_dom.
InterPro; IPR036910; HMG_box_dom_sf.
InterPro; IPR029548; SOX-9.
InterPro; IPR022151; Sox_N.
PANTHER; PTHR10270:SF212; PTHR10270:SF212; 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.
1: Evidence at protein level;
3D-structure; Complete proteome; Disease mutation; DNA-binding;
Nucleus; Reference proteome; Transcription; Transcription regulation.
CHAIN 1 509 Transcription factor SOX-9.
/FTId=PRO_0000048739.
DNA_BIND 105 173 HMG box. {ECO:0000255|PROSITE-
ProRule:PRU00267}.
COMPBIAS 339 378 Gln/Pro-rich.
COMPBIAS 342 346 Poly-Pro.
VARIANT 28 509 Missing (in CMD1).
{ECO:0000269|PubMed:19033726}.
/FTId=VAR_078490.
VARIANT 76 76 A -> E (in CMD1; dimerization and the
resulting capacity to activate promoters
via dimeric binding sites is lost; other
features of the protein function remain
unaltered; dbSNP:rs137853128).
{ECO:0000269|PubMed:12783851}.
/FTId=VAR_063642.
VARIANT 108 108 P -> L (in CMD1).
{ECO:0000269|PubMed:9002675}.
/FTId=VAR_003735.
VARIANT 112 112 F -> L (in CMD1; loss of DNA binding).
{ECO:0000269|PubMed:10446171,
ECO:0000269|PubMed:7485151}.
/FTId=VAR_003736.
VARIANT 112 112 F -> S (in CMD1).
{ECO:0000269|PubMed:9452059}.
/FTId=VAR_003737.
VARIANT 113 113 M -> T (in CMD1).
{ECO:0000269|PubMed:19921652}.
/FTId=VAR_063643.
VARIANT 113 113 M -> V (in CMD1; residual DNA binding and
transactivation of regulated genes).
{ECO:0000269|PubMed:20513132}.
/FTId=VAR_063644.
VARIANT 119 119 A -> V (in CMD1; almost no loss of DNA
binding). {ECO:0000269|PubMed:10446171,
ECO:0000269|PubMed:7485151}.
/FTId=VAR_003738.
VARIANT 143 143 W -> R (in CMD1).
{ECO:0000269|PubMed:9002675}.
/FTId=VAR_003739.
VARIANT 152 152 R -> P (in CMD1).
{ECO:0000269|PubMed:9002675}.
/FTId=VAR_003740.
VARIANT 154 154 F -> L (in CMD1; 5% of wild-type DNA
binding activity; transcriptional
activation is only reduced to 26% of
wild-type activity; dbSNP:rs137853129).
{ECO:0000269|PubMed:11323423}.
/FTId=VAR_008529.
VARIANT 158 158 A -> T (in CMD1; 17% of wild-type DNA
binding activity; shows a 2-fold
reduction in nuclear import efficiency;
transcriptional activation is only
reduced to 62% of wild-type activity;
dbSNP:rs137853130).
{ECO:0000269|PubMed:11323423}.
/FTId=VAR_008530.
VARIANT 165 165 H -> Q (in CMD1; residual DNA binding and
transactivation of regulated genes).
{ECO:0000269|PubMed:20513132}.
/FTId=VAR_063645.
VARIANT 165 165 H -> Y (in CMD1; loss of DNA binding;
dbSNP:rs28940282).
{ECO:0000269|PubMed:10446171,
ECO:0000269|PubMed:11754051}.
/FTId=VAR_008531.
VARIANT 169 169 H -> P (in CMD1; decreased 75%
transactivational activity).
{ECO:0000269|PubMed:19033726,
ECO:0000269|PubMed:24038782}.
/FTId=VAR_078491.
VARIANT 169 169 H -> Q (in CMD1; mild form overlapping
with small patella syndrome; decreased
50% transactivational activity).
{ECO:0000269|PubMed:24038782}.
/FTId=VAR_078492.
VARIANT 170 170 P -> L (in CMD1).
{ECO:0000269|PubMed:19921652}.
/FTId=VAR_063646.
VARIANT 170 170 P -> R (in CMD1).
{ECO:0000269|PubMed:10446171,
ECO:0000269|PubMed:9002675}.
/FTId=VAR_003741.
VARIANT 173 173 K -> E (in CMD1; dbSNP:rs104894647).
{ECO:0000269|PubMed:10951468}.
/FTId=VAR_063647.
VARIANT 354 356 Missing (in CMD1).
/FTId=VAR_003742.
HELIX 111 126 {ECO:0000244|PDB:4EUW}.
HELIX 132 143 {ECO:0000244|PDB:4EUW}.
HELIX 148 168 {ECO:0000244|PDB:4EUW}.
SEQUENCE 509 AA; 56137 MW; 9289CFBB8D6631A2 CRC64;
MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL
KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR
RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK
SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT
PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP
NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP
QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY
SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI
ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP


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