SOX10
entrez
6663
canonical
uniprot
P56693
canonical
ensembl
ENSG00000100146
resolver
ensp
ENSP00000380093
resolver
genesymbol
SOX10
resolver
hgnc
HGNC:11190
resolver
uniprot
B4DV62
resolver
uniprot
Q6FHW7
resolver
uniprot_entry
SOX10_HUMAN
resolver
uniprot_sec
B4DV62
resolver
uniprot_sec
Q6FHW7
resolver
amino_acid_sequence
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP
uniprot
proteins
disease_involvement
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 variants 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 variants 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that plays a central role in developing and mature glia (By similarity). 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 (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcriptional activator of MBP, via binding to the gene promoter (By similarity). {ECO:0000250|UniProtKB:O55170, ECO:0000250|UniProtKB:Q04888, ECO:0000269|PubMed:21965087}.
uniprot
proteins
mass_dalton
49911
uniprot
proteins
pubmed
10441344
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10762540
uniprot
proteins
pubmed
12138193
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15004559
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17999358
uniprot
proteins
pubmed
18348274
uniprot
proteins
pubmed
19208381
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21898658
uniprot
proteins
pubmed
21965087
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
31194875
uniprot
proteins
pubmed
9462749
uniprot
proteins
pubmed
9722528
uniprot
proteins
pubmed
9760192
uniprot
proteins
sequence_length
466
uniprot
proteins
subcellular_location
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}.
uniprot
proteins