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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 seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity).By similarity

Regions

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100146-MONOMER.
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

HGNCiHGNC:11190. SOX10.

Subcellular locationi

GO - Cellular componenti

  • extrinsic component of mitochondrial outer membrane Source: Ensembl
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, 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 rs74315515dbSNPEnsembl.1
Natural variantiVAR_066753161R → H in WS2E; reduced DNA binding capacity. 1 PublicationCorresponds to variant rs750566714dbSNPEnsembl.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 rs121909117dbSNPEnsembl.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 rs267607081dbSNPEnsembl.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

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1167533,EBI-1167533
NMIQ132872EBI-1167533,EBI-372942
PAX3P237602EBI-1167533,EBI-1167564
POU3F2P202653EBI-1167533,EBI-1167176
SUMO1P631652EBI-1167533,EBI-80140
UBE2IP632792EBI-1167533,EBI-80168

Protein-protein interaction databases

BioGridi112546. 8 interactors.
IntActiP56693. 10 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

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR022151. Sox_N.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

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 rs74315515dbSNPEnsembl.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 rs121909117dbSNPEnsembl.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 rs750566714dbSNPEnsembl.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 rs267607081dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

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

Protein-protein interaction databases

BioGridi112546. 8 interactors.
IntActiP56693. 10 interactors.
MINTiMINT-1781695.
STRINGi9606.ENSP00000354130.

PTM databases

iPTMnetiP56693.
PhosphoSitePlusiP56693.

Polymorphism and mutation databases

BioMutaiSOX10.
DMDMi6175075.

Proteomic databases

EPDiP56693.
MaxQBiP56693.
PaxDbiP56693.
PeptideAtlasiP56693.
PRIDEiP56693.

Protocols and materials databases

DNASUi6663.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6663.
DisGeNETi6663.
GeneCardsiSOX10.
HGNCiHGNC:11190. SOX10.
HPAiCAB003171.
HPA068898.
MalaCardsiSOX10.
MIMi602229. gene.
609136. phenotype.
611584. phenotype.
613266. phenotype.
neXtProtiNX_P56693.
OpenTargetsiENSG00000100146.
Orphaneti478. Kallmann syndrome.
163746. Neurologic Waardenburg-Shah syndrome.
895. Waardenburg syndrome type 2.
897. Waardenburg-Shah syndrome.
PharmGKBiPA36027.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100146-MONOMER.
SignaLinkiP56693.
SIGNORiP56693.

Miscellaneous databases

GeneWikiiSOX10.
GenomeRNAii6663.
PROiP56693.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR022151. Sox_N.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOX10_HUMAN
AccessioniPrimary (citable) accession number: P56693
Secondary accession number(s): B4DV62, Q6FHW7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: November 30, 2016
This is version 166 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.