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Details on Person UniProt:P56693 SOX10

Class:IdReferenceGeneProduct:65320
_chainChangeLogchain:1-466 added on Fri February 6 2015
_displayNameUniProt:P56693 SOX10
_timestamp2024-11-03 19:54:04
chainchain:1-466
checksumFAA1EC108D4DE6A1
commentFUNCTION 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).SUBUNIT Monomer. Interacts with ARMCX3 at the mitochondrial outer membrane surface. Interacts with PAX3 (PubMed:21965087).INTERACTION Expressed in fetal brain and in adult brain, heart, small intestine and colon.DOMAIN The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.
descriptionrecommendedName: Transcription factor SOX-10
geneNameSOX10
identifierP56693
isSequenceChangedFALSE
keywordActivator
Alternative splicing
Cytoplasm
Deafness
Disease variant
DNA-binding
Hirschsprung disease
Kallmann syndrome
Membrane
Mitochondrion
Mitochondrion outer membrane
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Transcription
Transcription regulation
Waardenburg syndrome
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameSOX10
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8996279] ENSEMBL:ENSG00000100146 SOX10 [Homo sapiens]
secondaryIdentifierSOX10_HUMAN
B4DV62
Q6FHW7
sequenceLength466
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8968062] UniProt:P56693-1 SOX10 [Homo sapiens]
[ReferenceIsoform:8968063] UniProt:P56693-2 SOX10 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:9613639] SOX10 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9824578] p-T240,T244-SOX10 [nucleoplasm] [Homo sapiens]
(referenceSequence)[ModifiedResidue:9824595] O-phospho-L-threonine at 244
[ModifiedResidue:9824599] O-phospho-L-threonine at 240
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No pathways have been reviewed or authored by UniProt:P56693 SOX10 (65320)