Entity Details

Primary name SOX10_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP56693
EntryNameSOX10_HUMAN
FullNameTranscription factor SOX-10
TaxID9606
Evidenceevidence at protein level
Length466
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesSOX10

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001216 DNA-binding transcription activator activity
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001701 in utero embryonic development
GO:0001755 neural crest cell migration
GO:0002009 morphogenesis of an epithelium
GO:0002052 positive regulation of neuroblast proliferation
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0007422 peripheral nervous system development
GO:0008134 transcription factor binding
GO:0009653 anatomical structure morphogenesis
GO:0010626 negative regulation of Schwann cell proliferation
GO:0010628 positive regulation of gene expression
GO:0014003 oligodendrocyte development
GO:0014015 positive regulation of gliogenesis
GO:0022010 central nervous system myelination
GO:0030318 melanocyte differentiation
GO:0031315 extrinsic component of mitochondrial outer membrane
GO:0031643 positive regulation of myelination
GO:0032808 lacrimal gland development
GO:0035690 cellular response to drug
GO:0042802 identical protein binding
GO:0043066 negative regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048469 cell maturation
GO:0048484 enteric nervous system development
GO:0048546 digestive tract morphogenesis
GO:0048589 developmental growth
GO:0048709 oligodendrocyte differentiation
GO:0061138 morphogenesis of a branching epithelium
GO:0071393 cellular response to progesterone stimulus
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1990837 sequence-specific double-stranded DNA binding
GO:1990841 promoter-specific chromatin binding

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion outer membrane
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR022151 Sox developmental protein N-terminalDomainDomain
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
611584 OMIMWaardenburg syndrome 2E (WS2E)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. The disease is caused by variants affecting the gene represented in this entry.
609136 OMIMPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. The disease is caused by variants affecting the gene represented in this entry.
613266 OMIMWaardenburg syndrome 4C (WS4C)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). The disease is caused by variants affecting the gene represented in this entry.

Interactions

46 interactions

InteractorPartnerSourcesPublicationsLink
SOX10_HUMANUBC9_HUMANBioGRID, HPRD, MINT16494873 29295999 details
SOX10_HUMANSUMO1_HUMANHPRD, MINT16494873 details
SOX10_HUMANPO3F2_HUMANBioGRID, HPRD, IntAct11029584 details
SOX10_HUMANSOX10_HUMANHPRD, IntAct11029584 details
SOX10_HUMANPAX3_HUMANBioGRID, HPRD, IntAct10942418 11029584 12668617 details
SOX10_HUMANNMI_HUMANBioGRID, HPRD, IntAct16214168 details
SOX10_HUMANEXOC5_HUMANBioGRID, IntAct21988832 details
SOX10_HUMANCDK6_HUMANBioGRID, IntAct22094256 details
SOX10_HUMANCRX_HUMANBioGRID, IntAct32296183 details
SOX10_HUMANHSF4_HUMANBioGRID, IntAct32296183 details
SOX10_HUMANMAGD1_HUMANBioGRID, IntAct32296183 details
SOX10_HUMANDAZP2_HUMANBioGRID, IntAct32296183 details
SOX10_HUMANPO6F2_HUMANBioGRID, IntAct32296183 details
SOX10_HUMANCJ055_HUMANIntAct32296183 details
SOX10_HUMANPPIA_HUMANIntAct32814053 details
SOX10_HUMANKPCA_HUMANIntAct32814053 details
SOX10_HUMAN1433G_HUMANIntAct32814053 details
SOX10_HUMANSETB1_HUMANIntAct32814053 details
SOX10_HUMANKAT5_HUMANIntAct32814053 details
SOX10_HUMANLMO3_HUMANIntAct32814053 details
SOX10_HUMANGSK3B_HUMANBioGRID26461473 details
SOX10_HUMANMK01_HUMANBioGRID29295999 details
SOX10_HUMANPAX6_HUMANHPRD16582099 details
SOX10_HUMANMEOX1_HUMANHPRD16582099 details
SOX10_HUMANZEP1_HUMANHPRD16582099 details
SOX10_HUMANDLX5_HUMANHPRD16582099 details
SOX10_HUMANHHEX_HUMANHPRD16582099 details
SOX10_HUMANALX4_HUMANHPRD16582099 details
SOX10_HUMANHXA3_HUMANHPRD16582099 details
SOX10_HUMANPO3F3_HUMANHPRD16582099 details
SOX10_HUMANUTF1_HUMANHPRD16582099 details
SOX10_HUMANPRRX1_HUMANHPRD16582099 details
SOX10_HUMANHXC4_HUMANHPRD16582099 details
SOX10_HUMANPRRX2_HUMANHPRD16582099 details
SOX10_HUMANEPAS1_HUMANBioGRID23275444 details
SOX10_HUMANFBXW7_HUMANBioGRID26461473 details
SOX10_HUMANCHD7_HUMANBioGRID26928066 details
SOX10_HUMANHTF4_HUMANHPRD16582099 details
SOX10_HUMANOLIG2_HUMANHPRD16582099 details
SOX10_HUMANJUN_HUMANHPRD16582099 details
SOX10_HUMANCEBPA_HUMANHPRD16582099 details
SOX10_HUMANEGR2_HUMANHPRD16582099 details
SOX10_HUMANSP1_HUMANHPRD16582099 details
SOX10_HUMANPO5F1_HUMANHPRD16582099 details
SOX10_HUMANSUMO2_HUMANHPRD16494873 details
SOX10_HUMANSUMO3_HUMANHPRD16494873 details