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Transcription factor SOX-10

 SOX10_HUMAN             Reviewed;         466 AA.
P56693; B4DV62; Q6FHW7;
15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
15-JUL-1999, sequence version 1.
20-JUN-2018, entry version 182.
RecName: Full=Transcription factor SOX-10;
Name=SOX10;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT WS4C LEU-ARG-161
INS.
PubMed=9462749; DOI=10.1038/ng0298-171;
Pingault V., Bondurand N., Kuhlbrodt K., Goerich D.E., Prehu M.O.,
Puliti A., Herbarth B., Hermans-Borgmeyer I., Legius E., Matthijs G.,
Amiel J., Lyonnet S., Ceccherini I., Romeo G., Clayton-Smith J.,
Read A.P., Wegner M., Goossens M.;
"SOX10 mutations in patients with Waardenburg-Hirschsprung disease.";
Nat. Genet. 18:171-173(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=9760192; DOI=10.1007/s004390050793;
Pusch C., Hustert E., Pfeifer D., Sudbeck P., Kist R., Roe B.,
Wang Z., Balling R., Blin N., Scherer G.;
"The SOX10/Sox10 gene from human and mouse: sequence, expression, and
transactivation by the encoded HMG domain transcription factor.";
Hum. Genet. 103:115-123(1998).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
Beare D.M., Dunham I.;
"A genome annotation-driven approach to cloning the human ORFeome.";
Genome Biol. 5:R84.1-R84.11(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Small intestine;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=10591208; DOI=10.1038/990031;
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
Khan A.S., Lane L., Tilahun Y., Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta, and Skin;
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).
[9]
CHARACTERIZATION.
PubMed=9722528; DOI=10.1074/jbc.273.36.23033;
Kuhlbrodt K., Schmidt C., Sock E., Pingault V., Bondurand N.,
Goossens M., Wegner M.;
"Functional analysis of Sox10 mutations found in human Waardenburg-
Hirschsprung patients.";
J. Biol. Chem. 273:23033-23038(1998).
[10]
NUCLEOCYTOPLASMIC SHUTTLING, AND SUBCELLULAR LOCATION.
PubMed=12138193; DOI=10.1128/MCB.22.16.5826-5834.2002;
Rehberg S., Lischka P., Glaser G., Stamminger T., Wegner M.,
Rosorius O.;
"Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling
is crucial for Sox10-mediated transactivation.";
Mol. Cell. Biol. 22:5826-5834(2002).
[11]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
Mann M., Daub H.;
"Large-scale proteomics analysis of the human kinome.";
Mol. Cell. Proteomics 8:1751-1764(2009).
[12]
FUNCTION, AND INTERACTION WITH PAX3.
PubMed=21965087; DOI=10.1007/s00439-011-1098-2;
Zhang H., Chen H., Luo H., An J., Sun L., Mei L., He C., Jiang L.,
Jiang W., Xia K., Li J.D., Feng Y.;
"Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10
mutations: report of a dominant-negative SOX10 mutation in Waardenburg
syndrome type II.";
Hum. Genet. 131:491-503(2012).
[13]
VARIANT WS2E THR-135.
PubMed=10441344; DOI=10.1093/hmg/8.9.1785;
Bondurand N., Kuhlbrodt K., Pingault V., Enderich J., Sajus M.,
Tommerup N., Warburg M., Hennekam R.C.M., Read A.P., Wegner M.,
Goossens M.;
"A molecular analysis of the Yemenite deaf-blind hypopigmentation
syndrome: SOX10 dysfunction causes different neurocristopathies.";
Hum. Mol. Genet. 8:1785-1789(1999).
[14]
INVOLVEMENT IN PCWH.
PubMed=10762540; DOI=10.1086/302895;
Touraine R.L., Attie-Bitach T., Manceau E., Korsch E., Sarda P.,
Pingault V., Encha-Razavi F., Pelet A., Auge J.,
Nivelon-Chevallier A., Holschneider A.M., Munnes M., Doerfler W.,
Goossens M., Munnich A., Vekemans M., Lyonnet S.;
"Neurological phenotype in Waardenburg syndrome type 4 correlates with
novel SOX10 truncating mutations and expression in developing brain.";
Am. J. Hum. Genet. 66:1496-1503(2000).
[15]
ERRATUM.
Touraine R.L., Attie-Bitach T., Manceau E., Korsch E., Sarda P.,
Pingault V., Encha-Razavi F., Pelet A., Auge J.,
Nivelon-Chevallier A., Holschneider A.M., Munnes M., Doerfler W.,
Goossens M., Munnich A., Vekemans M., Lyonnet S.;
Am. J. Hum. Genet. 66:2020-2020(2000).
[16]
INVOLVEMENT IN PCWH.
PubMed=15004559; DOI=10.1038/ng1322;
Inoue K., Khajavi M., Ohyama T., Hirabayashi S., Wilson J.,
Reggin J.D., Mancias P., Butler I.J., Wilkinson M.F., Wegner M.,
Lupski J.R.;
"Molecular mechanism for distinct neurological phenotypes conveyed by
allelic truncating mutations.";
Nat. Genet. 36:361-369(2004).
[17]
INVOLVEMENT IN WS2E.
PubMed=17999358; DOI=10.1086/522090;
Bondurand N., Dastot-Le Moal F., Stanchina L., Collot N., Baral V.,
Marlin S., Attie-Bitach T., Giurgea I., Skopinski L., Reardon W.,
Toutain A., Sarda P., Echaieb A., Lackmy-Port-Lis M., Touraine R.,
Amiel J., Goossens M., Pingault V.;
"Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2
and 4.";
Am. J. Hum. Genet. 81:1169-1185(2007).
[18]
VARIANT WS4C VAL-157.
PubMed=18348274; DOI=10.1002/ajmg.a.32181;
Morin M., Vinuela A., Rivera T., Villamar M., Moreno-Pelayo M.A.,
Moreno F., del Castillo I.;
"A de novo missense mutation in the gene encoding the SOX10
transcription factor in a Spanish sporadic case of Waardenburg
syndrome type IV.";
Am. J. Med. Genet. A 146:1032-1037(2008).
[19]
VARIANT PCWH PRO-174.
PubMed=19208381; DOI=10.1002/ajmg.a.32657;
Barnett C.P., Mendoza-Londono R., Blaser S., Gillis J., Dupuis L.,
Levin A.V., Chiang P.W., Spector E., Reardon W.;
"Aplasia of cochlear nerves and olfactory bulbs in association with
SOX10 mutation.";
Am. J. Med. Genet. A 149:431-436(2009).
[20]
VARIANTS WS4C TRP-106; PRO-145 AND VAL-157, VARIANTS WS2E ILE-112 AND
HIS-161, VARIANTS PCWH ILE-112; HIS-131; ASN-150; PRO-174; ALA-175;
LEU-175; ARG-175 AND ARG-321, CHARACTERIZATION OF VARIANTS WS4C
TRP-106; PRO-145 AND VAL-157, CHARACTERIZATION OF VARIANTS WS2E
ILE-112 AND HIS-161, AND CHARACTERIZATION OF VARIANTS PCWH HIS-131;
ASN-150; PRO-174; ALA-175; LEU-175 AND ARG-175.
PubMed=21898658; DOI=10.1002/humu.21583;
Chaoui A., Watanabe Y., Touraine R., Baral V., Goossens M.,
Pingault V., Bondurand N.;
"Identification and functional analysis of SOX10 missense mutations in
different subtypes of Waardenburg syndrome.";
Hum. Mutat. 32:1436-1449(2011).
[21]
VARIANTS THR-108; VAL-111; GLY-135; CYS-151 AND CYS-161.
PubMed=25077900; DOI=10.1210/jc.2014-2110;
Marcos S., Sarfati J., Leroy C., Fouveaut C., Parent P., Metz C.,
Wolczynski S., Gerard M., Bieth E., Kurtz F., Verier-Mine O.,
Perrin L., Archambeaud F., Cabrol S., Rodien P., Hove H., Prescott T.,
Lacombe D., Christin-Maitre S., Touraine P., Hieronimus S.,
Dewailly D., Young J., Pugeat M., Hardelin J.P., Dode C.;
"The prevalence of CHD7 missense versus truncating mutations is higher
in patients with Kallmann syndrome than in typical CHARGE patients.";
J. Clin. Endocrinol. Metab. 99:E2138-2143(2014).
-!- FUNCTION: Transcription factor that plays a central role in
developing and mature glia. Specifically activates expression of
myelin genes, during oligodendrocyte (OL) maturation, such as
DUSP15 and MYRF, thereby playing a central role in oligodendrocyte
maturation and CNS myelination. Once induced, MYRF cooperates with
SOX10 to implement the myelination program. Transcriptional
activator of MITF, acting synergistically with PAX3
(PubMed:21965087). {ECO:0000250|UniProtKB:Q04888,
ECO:0000269|PubMed:21965087}.
-!- SUBUNIT: Monomer. Interacts with ARMCX3 at the mitochondrial outer
membrane surface. Interacts with PAX3 (PubMed:21965087).
{ECO:0000250|UniProtKB:Q04888, ECO:0000269|PubMed:21965087}.
-!- INTERACTION:
Self; NbExp=2; IntAct=EBI-1167533, EBI-1167533;
Q13287:NMI; NbExp=2; IntAct=EBI-1167533, EBI-372942;
P23760:PAX3; NbExp=2; IntAct=EBI-1167533, EBI-1167564;
P20265:POU3F2; NbExp=3; IntAct=EBI-1167533, EBI-1167176;
P63165:SUMO1; NbExp=2; IntAct=EBI-1167533, EBI-80140;
P63279:UBE2I; NbExp=2; IntAct=EBI-1167533, EBI-80168;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12138193}.
Nucleus {ECO:0000269|PubMed:12138193}. Mitochondrion outer
membrane {ECO:0000250|UniProtKB:Q04888}; Peripheral membrane
protein {ECO:0000250|UniProtKB:Q04888}; Cytoplasmic side
{ECO:0000250|UniProtKB:Q04888}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P56693-1; Sequence=Displayed;
Name=2;
IsoId=P56693-2; Sequence=VSP_053874;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in fetal brain and in adult brain,
heart, small intestine and colon.
-!- DISEASE: Waardenburg syndrome 2E (WS2E) [MIM:611584]: An autosomal
dominant auditory-pigmentary disorder characterized by
sensorineural deafness, pigmentary disturbances of the hair, skin
and eyes, and absence of dystopia canthorum which is the lateral
displacement of the inner canthus of each eye. Individuals with
WS2E may have neurologic abnormalities, including mental
impairment, myelination defects, and ataxia. Some patients can
manifest features of Kallmann syndrome.
{ECO:0000269|PubMed:10441344, ECO:0000269|PubMed:17999358,
ECO:0000269|PubMed:21898658}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Waardenburg syndrome 4C (WS4C) [MIM:613266]: A disorder
characterized by the association of Waardenburg features
(depigmentation and deafness) with the absence of enteric ganglia
in the distal part of the intestine (Hirschsprung disease).
{ECO:0000269|PubMed:18348274, ECO:0000269|PubMed:21898658,
ECO:0000269|PubMed:9462749}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Peripheral demyelinating neuropathy, central
dysmyelinating leukodystrophy, Waardenburg syndrome and
Hirschsprung disease (PCWH) [MIM:609136]: A complex
neurocristopathy that includes features of 4 distinct syndromes:
peripheral demyelinating neuropathy, central dysmyelinating
leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
{ECO:0000269|PubMed:10762540, ECO:0000269|PubMed:15004559,
ECO:0000269|PubMed:19208381, ECO:0000269|PubMed:21898658}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/SOX10ID43768ch22q13.html";
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EMBL; AJ001183; CAA04576.1; -; mRNA.
EMBL; CR456584; CAG30470.1; -; mRNA.
EMBL; BT020029; AAV38832.1; -; mRNA.
EMBL; AK300945; BAG62574.1; -; mRNA.
EMBL; CR536571; CAG38808.1; -; mRNA.
EMBL; AL031587; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC002824; AAH02824.1; -; mRNA.
EMBL; BC007595; AAH07595.1; -; mRNA.
CCDS; CCDS13964.1; -. [P56693-1]
RefSeq; NP_008872.1; NM_006941.3. [P56693-1]
UniGene; Hs.376984; -.
ProteinModelPortal; P56693; -.
SMR; P56693; -.
BioGrid; 112546; 8.
IntAct; P56693; 14.
MINT; P56693; -.
STRING; 9606.ENSP00000354130; -.
iPTMnet; P56693; -.
PhosphoSitePlus; P56693; -.
BioMuta; SOX10; -.
DMDM; 6175075; -.
EPD; P56693; -.
MaxQB; P56693; -.
PaxDb; P56693; -.
PeptideAtlas; P56693; -.
PRIDE; P56693; -.
ProteomicsDB; 56933; -.
DNASU; 6663; -.
Ensembl; ENST00000360880; ENSP00000354130; ENSG00000100146. [P56693-1]
Ensembl; ENST00000396884; ENSP00000380093; ENSG00000100146. [P56693-1]
GeneID; 6663; -.
KEGG; hsa:6663; -.
UCSC; uc003aun.2; human. [P56693-1]
CTD; 6663; -.
DisGeNET; 6663; -.
EuPathDB; HostDB:ENSG00000100146.16; -.
GeneCards; SOX10; -.
HGNC; HGNC:11190; SOX10.
HPA; CAB003171; -.
HPA; HPA068898; -.
MalaCards; SOX10; -.
MIM; 602229; gene.
MIM; 609136; phenotype.
MIM; 611584; phenotype.
MIM; 613266; phenotype.
neXtProt; NX_P56693; -.
OpenTargets; ENSG00000100146; -.
Orphanet; 478; Kallmann syndrome.
Orphanet; 163746; Neurologic Waardenburg-Shah syndrome.
Orphanet; 895; Waardenburg syndrome type 2.
Orphanet; 897; Waardenburg-Shah syndrome.
PharmGKB; PA36027; -.
eggNOG; KOG0527; Eukaryota.
eggNOG; ENOG410XT0K; LUCA.
GeneTree; ENSGT00760000118988; -.
HOGENOM; HOG000108876; -.
HOVERGEN; HBG002061; -.
InParanoid; P56693; -.
KO; K09270; -.
OMA; RPLYTTI; -.
OrthoDB; EOG091G0EKD; -.
PhylomeDB; P56693; -.
SignaLink; P56693; -.
SIGNOR; P56693; -.
GeneWiki; SOX10; -.
GenomeRNAi; 6663; -.
PRO; PR:P56693; -.
Proteomes; UP000005640; Chromosome 22.
Bgee; ENSG00000100146; -.
CleanEx; HS_SOX10; -.
ExpressionAtlas; P56693; baseline and differential.
Genevisible; P56693; HS.
GO; GO:0000785; C:chromatin; IEA:Ensembl.
GO; GO:0005741; C:mitochondrial outer membrane; IEA:UniProtKB-SubCell.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
GO; GO:0003700; F:DNA binding transcription factor activity; ISS:UniProtKB.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:1990841; F:promoter-specific chromatin binding; IEA:Ensembl.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0003713; F:transcription coactivator activity; TAS:ProtInc.
GO; GO:0008134; F:transcription factor binding; IEA:Ensembl.
GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
GO; GO:0071393; P:cellular response to progesterone stimulus; IEA:Ensembl.
GO; GO:0022010; P:central nervous system myelination; ISS:UniProtKB.
GO; GO:0010626; P:negative regulation of Schwann cell proliferation; IEA:Ensembl.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:Ensembl.
GO; GO:0014003; P:oligodendrocyte development; ISS:UniProtKB.
GO; GO:0048709; P:oligodendrocyte differentiation; ISS:UniProtKB.
GO; GO:0031643; P:positive regulation of myelination; IEA:Ensembl.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0006357; P:regulation of transcription by RNA polymerase II; TAS:ProtInc.
GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl.
GO; GO:0006368; P:transcription elongation from RNA polymerase II promoter; IEA:Ensembl.
Gene3D; 1.10.30.10; -; 1.
InterPro; IPR009071; HMG_box_dom.
InterPro; IPR036910; HMG_box_dom_sf.
InterPro; IPR022151; Sox_N.
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;
Alternative splicing; Complete proteome; Cytoplasm; Deafness;
Disease mutation; DNA-binding; Hirschsprung disease;
Kallmann syndrome; Membrane; Mitochondrion;
Mitochondrion outer membrane; Nucleus; Phosphoprotein;
Reference proteome; Transcription; Transcription regulation;
Waardenburg syndrome.
CHAIN 1 466 Transcription factor SOX-10.
/FTId=PRO_0000048746.
DNA_BIND 104 172 HMG box. {ECO:0000255|PROSITE-
ProRule:PRU00267}.
MOTIF 134 145 Nuclear export signal.
COMPBIAS 35 41 Poly-Gly.
MOD_RES 24 24 Phosphoserine.
{ECO:0000244|PubMed:19369195}.
VAR_SEQ 262 441 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_053874.
VARIANT 106 106 R -> W (in WS4C; loss of DNA binding and
transactivation capacity).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066747.
VARIANT 108 108 M -> T (found in a patient with Kallmann
syndrome). {ECO:0000269|PubMed:25077900}.
/FTId=VAR_072981.
VARIANT 111 111 F -> V (found in a patient with Kallmann
syndrome). {ECO:0000269|PubMed:25077900}.
/FTId=VAR_072982.
VARIANT 112 112 M -> I (in WS2E and PCWH; increased DNA
binding capacity).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066748.
VARIANT 131 131 N -> H (in PCWH; reduced DNA binding
capacity). {ECO:0000269|PubMed:21898658}.
/FTId=VAR_066749.
VARIANT 135 135 S -> G (found in a patient with Kallmann
syndrome). {ECO:0000269|PubMed:25077900}.
/FTId=VAR_072983.
VARIANT 135 135 S -> T (in WS2E; without neurologic
involvement; dbSNP:rs74315515).
{ECO:0000269|PubMed:10441344}.
/FTId=VAR_021386.
VARIANT 145 145 L -> P (in WS4C; loss of DNA binding and
transactivation capacity).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066750.
VARIANT 150 150 K -> N (in PCWH; loss of DNA binding and
transactivation capacity).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066751.
VARIANT 151 151 R -> C (found in a patient with Kallmann
syndrome). {ECO:0000269|PubMed:25077900}.
/FTId=VAR_072984.
VARIANT 157 157 A -> V (in WS4C; loss of DNA binding and
transactivation capacity;
dbSNP:rs121909117).
{ECO:0000269|PubMed:18348274,
ECO:0000269|PubMed:21898658}.
/FTId=VAR_066752.
VARIANT 161 161 R -> C (found in a patient with Kallmann
syndrome). {ECO:0000269|PubMed:25077900}.
/FTId=VAR_072985.
VARIANT 161 161 R -> H (in WS2E; reduced DNA binding
capacity; dbSNP:rs750566714).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066753.
VARIANT 161 161 R -> RLR (in WS4C).
{ECO:0000269|PubMed:9462749}.
/FTId=VAR_003743.
VARIANT 174 174 Q -> P (in PCWH; without Hirschsprung
disease; reduced DNA binding capacity;
dbSNP:rs267607081).
{ECO:0000269|PubMed:19208381,
ECO:0000269|PubMed:21898658}.
/FTId=VAR_066754.
VARIANT 175 175 P -> A (in PCWH; reduced DNA binding
capacity). {ECO:0000269|PubMed:21898658}.
/FTId=VAR_066755.
VARIANT 175 175 P -> L (in PCWH; reduced DNA binding
capacity). {ECO:0000269|PubMed:21898658}.
/FTId=VAR_066756.
VARIANT 175 175 P -> R (in PCWH; reduced DNA binding
capacity). {ECO:0000269|PubMed:21898658}.
/FTId=VAR_066757.
VARIANT 321 321 G -> R (in PCWH).
{ECO:0000269|PubMed:21898658}.
/FTId=VAR_066758.
CONFLICT 222 222 P -> L (in Ref. 5; CAG38808).
{ECO:0000305}.
CONFLICT 461 461 T -> M (in Ref. 5; CAG38808).
{ECO:0000305}.
SEQUENCE 466 AA; 49911 MW; FAA1EC108D4DE6A1 CRC64;
MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD
GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR
KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN
GKAAQGEAEC PGGEAEQGGT AAIQAHYKSA HLDHRHPGEG SPMSDGNPEH PSGQSHGPPT
PPTTPKTELQ SGKADPKRDG RSMGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVAELDQY
LPPNGHPGHV SSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET
AGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHSGQASG
LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP


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