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Protein

Transcription factor SOX-10

Gene

SOX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi104 – 172HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP56693.
SIGNORiP56693.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-10
Gene namesi
Name:SOX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100146.16.
HGNCiHGNC:11190. SOX10.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Waardenburg syndrome 2E (WS2E)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:611584
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066748112M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication1
Natural variantiVAR_021386135S → T in WS2E; without neurologic involvement. 1 PublicationCorresponds to variant dbSNP:rs74315515Ensembl.1
Natural variantiVAR_066753161R → H in WS2E; reduced DNA binding capacity. 1 PublicationCorresponds to variant dbSNP:rs750566714Ensembl.1
Waardenburg syndrome 4C (WS4C)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:613266
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066747106R → W in WS4C; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_066750145L → P in WS4C; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_066752157A → V in WS4C; loss of DNA binding and transactivation capacity. 2 PublicationsCorresponds to variant dbSNP:rs121909117Ensembl.1
Natural variantiVAR_003743161R → RLR in WS4C. 1 Publication1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
See also OMIM:609136
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066748112M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication1
Natural variantiVAR_066749131N → H in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066751150K → N in PCWH; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_066754174Q → P in PCWH; without Hirschsprung disease; reduced DNA binding capacity. 2 PublicationsCorresponds to variant dbSNP:rs267607081Ensembl.1
Natural variantiVAR_066755175P → A in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066756175P → L in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066757175P → R in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066758321G → R in PCWH. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Hirschsprung disease, Kallmann syndrome, Waardenburg syndrome

Organism-specific databases

DisGeNETi6663.
MalaCardsiSOX10.
MIMi609136. phenotype.
611584. phenotype.
613266. phenotype.
OpenTargetsiENSG00000100146.
Orphaneti478. Kallmann syndrome.
163746. Neurologic Waardenburg-Shah syndrome.
895. Waardenburg syndrome type 2.
897. Waardenburg-Shah syndrome.
PharmGKBiPA36027.

Polymorphism and mutation databases

BioMutaiSOX10.
DMDMi6175075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487461 – 466Transcription factor SOX-10Add BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP56693.
MaxQBiP56693.
PaxDbiP56693.
PeptideAtlasiP56693.
PRIDEiP56693.

PTM databases

iPTMnetiP56693.
PhosphoSitePlusiP56693.

Expressioni

Tissue specificityi

Expressed in fetal brain and in adult brain, heart, small intestine and colon.

Gene expression databases

BgeeiENSG00000100146.
CleanExiHS_SOX10.
ExpressionAtlasiP56693. baseline and differential.
GenevisibleiP56693. HS.

Organism-specific databases

HPAiCAB003171.
HPA068898.

Interactioni

Subunit structurei

Monomer. Interacts with ARMCX3 at the mitochondrial outer membrane surface.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • transcription factor binding Source: Ensembl

Protein-protein interaction databases

BioGridi112546. 8 interactors.
IntActiP56693. 14 interactors.
MINTiMINT-1781695.
STRINGi9606.ENSP00000354130.

Structurei

3D structure databases

ProteinModelPortaliP56693.
SMRiP56693.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi134 – 145Nuclear export signalAdd BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 41Poly-Gly7

Phylogenomic databases

eggNOGiKOG0527. Eukaryota.
ENOG410XT0K. LUCA.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000108876.
HOVERGENiHBG002061.
InParanoidiP56693.
KOiK09270.
OMAiRPLYTTI.
OrthoDBiEOG091G0EKD.
PhylomeDBiP56693.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiView protein in InterPro
IPR009071. HMG_box_dom.
IPR022151. Sox_N.
PfamiView protein in Pfam
PF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
SMARTiView protein in SMART
SM00398. HMG. 1 hit.
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiView protein in PROSITE
PS50118. HMG_BOX_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P56693-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE
60 70 80 90 100
LGKVKKEQQD GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS
110 120 130 140 150
KPHVKRPMNA FMVWAQAARR KLADQYPHLH NAELSKTLGK LWRLLNESDK
160 170 180 190 200
RPFIEEAERL RMQHKKDHPD YKYQPRRRKN GKAAQGEAEC PGGEAEQGGT
210 220 230 240 250
AAIQAHYKSA HLDHRHPGEG SPMSDGNPEH PSGQSHGPPT PPTTPKTELQ
260 270 280 290 300
SGKADPKRDG RSMGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVAELDQY
310 320 330 340 350
LPPNGHPGHV SSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV
360 370 380 390 400
DAKAQVKTET AGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF
410 420 430 440 450
DYSDHQPSGP YYGHSGQASG LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH
460
SPTHWEQPVY TTLSRP
Length:466
Mass (Da):49,911
Last modified:July 15, 1999 - v1
Checksum:iFAA1EC108D4DE6A1
GO
Isoform 2 (identifier: P56693-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     262-441: Missing.

Note: No experimental confirmation available.
Show »
Length:286
Mass (Da):31,088
Checksum:i164087BF740FF550
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti222P → L in CAG38808 (Ref. 5) Curated1
Sequence conflicti461T → M in CAG38808 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066747106R → W in WS4C; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_072981108M → T Found in a patient with Kallmann syndrome. 1 Publication1
Natural variantiVAR_072982111F → V Found in a patient with Kallmann syndrome. 1 Publication1
Natural variantiVAR_066748112M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication1
Natural variantiVAR_066749131N → H in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_072983135S → G Found in a patient with Kallmann syndrome. 1 Publication1
Natural variantiVAR_021386135S → T in WS2E; without neurologic involvement. 1 PublicationCorresponds to variant dbSNP:rs74315515Ensembl.1
Natural variantiVAR_066750145L → P in WS4C; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_066751150K → N in PCWH; loss of DNA binding and transactivation capacity. 1 Publication1
Natural variantiVAR_072984151R → C Found in a patient with Kallmann syndrome. 1 Publication1
Natural variantiVAR_066752157A → V in WS4C; loss of DNA binding and transactivation capacity. 2 PublicationsCorresponds to variant dbSNP:rs121909117Ensembl.1
Natural variantiVAR_072985161R → C Found in a patient with Kallmann syndrome. 1 Publication1
Natural variantiVAR_066753161R → H in WS2E; reduced DNA binding capacity. 1 PublicationCorresponds to variant dbSNP:rs750566714Ensembl.1
Natural variantiVAR_003743161R → RLR in WS4C. 1 Publication1
Natural variantiVAR_066754174Q → P in PCWH; without Hirschsprung disease; reduced DNA binding capacity. 2 PublicationsCorresponds to variant dbSNP:rs267607081Ensembl.1
Natural variantiVAR_066755175P → A in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066756175P → L in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066757175P → R in PCWH; reduced DNA binding capacity. 1 Publication1
Natural variantiVAR_066758321G → R in PCWH. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053874262 – 441Missing in isoform 2. 1 PublicationAdd BLAST180

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001183 mRNA. Translation: CAA04576.1.
CR456584 mRNA. Translation: CAG30470.1.
BT020029 mRNA. Translation: AAV38832.1.
AK300945 mRNA. Translation: BAG62574.1.
CR536571 mRNA. Translation: CAG38808.1.
AL031587 Genomic DNA. Translation: CAB62982.1.
BC002824 mRNA. Translation: AAH02824.1.
BC007595 mRNA. Translation: AAH07595.1.
CCDSiCCDS13964.1. [P56693-1]
RefSeqiNP_008872.1. NM_006941.3. [P56693-1]
UniGeneiHs.376984.

Genome annotation databases

EnsembliENST00000360880; ENSP00000354130; ENSG00000100146. [P56693-1]
ENST00000396884; ENSP00000380093; ENSG00000100146. [P56693-1]
GeneIDi6663.
KEGGihsa:6663.
UCSCiuc003aun.2. human. [P56693-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSOX10_HUMAN
AccessioniPrimary (citable) accession number: P56693
Secondary accession number(s): B4DV62, Q6FHW7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: September 27, 2017
This is version 174 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot