Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P56693 (SOX10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-10
Gene names
Name:SOX10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cytoplasm. Nucleus.

Tissue specificity

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

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.16 Ref.19

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.17 Ref.19

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.15 Ref.18 Ref.19

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDeafness
Disease mutation
Hirschsprung disease
Kallmann syndrome
Waardenburg syndrome
   LigandDNA-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement PubMed 9425902. Source: ProtInc

cell maturation

Inferred from electronic annotation. Source: Ensembl

developmental growth

Inferred from electronic annotation. Source: Ensembl

digestive tract morphogenesis

Inferred from electronic annotation. Source: Ensembl

enteric nervous system development

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: Ensembl

neural crest cell migration

Inferred from electronic annotation. Source: Ensembl

oligodendrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

peripheral nervous system development

Inferred from electronic annotation. Source: Ensembl

positive regulation of gliogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter

Traceable author statement Ref.9. Source: ProtInc

   Cellular_componentextrinsic component of mitochondrial outer membrane

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay PubMed 18512230. Source: UniProtKB

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II distal enhancer sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

identical protein binding

Inferred from physical interaction PubMed 11029584. Source: IntAct

transcription coactivator activity

Traceable author statement Ref.9. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P56693-1)

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.
Isoform 2 (identifier: P56693-2)

The sequence of this isoform differs from the canonical sequence as follows:
     262-441: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 466466Transcription factor SOX-10
PRO_0000048746

Regions

DNA binding104 – 17269HMG box
Motif134 – 14512Nuclear export signal
Compositional bias35 – 417Poly-Gly

Amino acid modifications

Modified residue241Phosphoserine Ref.11

Natural variations

Alternative sequence262 – 441180Missing in isoform 2.
VSP_053874
Natural variant1061R → W in WS4C; loss of DNA binding and transactivation capacity. Ref.19
VAR_066747
Natural variant1121M → I in WS2E and PCWH; increased DNA binding capacity. Ref.19
VAR_066748
Natural variant1311N → H in PCWH; reduced DNA binding capacity. Ref.19
VAR_066749
Natural variant1351S → T in WS2E; without neurologic involvement. Ref.12
VAR_021386
Natural variant1451L → P in WS4C; loss of DNA binding and transactivation capacity. Ref.19
VAR_066750
Natural variant1501K → N in PCWH; loss of DNA binding and transactivation capacity. Ref.19
VAR_066751
Natural variant1571A → V in WS4C; loss of DNA binding and transactivation capacity. Ref.17 Ref.19
VAR_066752
Natural variant1611R → H in WS2E; reduced DNA binding capacity. Ref.19
VAR_066753
Natural variant1611R → RLR in WS4C.
VAR_003743
Natural variant1741Q → P in PCWH; without Hirschsprung disease; reduced DNA binding capacity. Ref.18 Ref.19
VAR_066754
Natural variant1751P → A in PCWH; reduced DNA binding capacity. Ref.19
VAR_066755
Natural variant1751P → L in PCWH; reduced DNA binding capacity. Ref.19
VAR_066756
Natural variant1751P → R in PCWH; reduced DNA binding capacity. Ref.19
VAR_066757
Natural variant3211G → R in PCWH. Ref.19
VAR_066758

Experimental info

Sequence conflict2221P → L in CAG38808. Ref.5
Sequence conflict4611T → M in CAG38808. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 15, 1999. Version 1.
Checksum: FAA1EC108D4DE6A1

FASTA46649,911
        10         20         30         40         50         60 
MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD 

        70         80         90        100        110        120 
GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR 

       130        140        150        160        170        180 
KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN 

       190        200        210        220        230        240 
GKAAQGEAEC PGGEAEQGGT AAIQAHYKSA HLDHRHPGEG SPMSDGNPEH PSGQSHGPPT 

       250        260        270        280        290        300 
PPTTPKTELQ SGKADPKRDG RSMGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVAELDQY 

       310        320        330        340        350        360 
LPPNGHPGHV SSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET 

       370        380        390        400        410        420 
AGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHSGQASG 

       430        440        450        460 
LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP 

« Hide

Isoform 2 [UniParc].

Checksum: 164087BF740FF550
Show »

FASTA28631,088

References

« Hide 'large scale' references
[1]"SOX10 mutations in patients with Waardenburg-Hirschsprung disease."
Pingault V., Bondurand N., Kuhlbrodt K., Goerich D.E., Prehu M.O., Puliti A., Herbarth B., Hermans-Borgmeyer I., Legius E., Matthijs G., Amiel J., Lyonnet S., Ceccherini I., Romeo G., Clayton-Smith J., Read A.P., Wegner M., Goossens M.
Nat. Genet. 18:171-173(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT WS4C LEU-ARG-161 INS.
[2]"The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor."
Pusch C., Hustert E., Pfeifer D., Sudbeck P., Kist R., Roe B., Wang Z., Balling R., Blin N., Scherer G.
Hum. Genet. 103:115-123(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Small intestine.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Placenta and Skin.
[9]"Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients."
Kuhlbrodt K., Schmidt C., Sock E., Pingault V., Bondurand N., Goossens M., Wegner M.
J. Biol. Chem. 273:23033-23038(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[10]"Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation."
Rehberg S., Lischka P., Glaser G., Stamminger T., Wegner M., Rosorius O.
Mol. Cell. Biol. 22:5826-5834(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOCYTOPLASMIC SHUTTLING.
[11]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies."
Bondurand N., Kuhlbrodt K., Pingault V., Enderich J., Sajus M., Tommerup N., Warburg M., Hennekam R.C.M., Read A.P., Wegner M., Goossens M.
Hum. Mol. Genet. 8:1785-1789(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WS2E THR-135.
[13]"Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain."
Touraine R.L., Attie-Bitach T., Manceau E., Korsch E., Sarda P., Pingault V., Encha-Razavi F., Pelet A., Auge J., Nivelon-Chevallier A., Holschneider A.M., Munnes M., Doerfler W., Goossens M., Munnich A., Vekemans M., Lyonnet S.
Am. J. Hum. Genet. 66:1496-1503(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PCWH.
[14]Erratum
Touraine R.L., Attie-Bitach T., Manceau E., Korsch E., Sarda P., Pingault V., Encha-Razavi F., Pelet A., Auge J., Nivelon-Chevallier A., Holschneider A.M., Munnes M., Doerfler W., Goossens M., Munnich A., Vekemans M., Lyonnet S.
Am. J. Hum. Genet. 66:2020-2020(2000)
[15]"Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations."
Inoue K., Khajavi M., Ohyama T., Hirabayashi S., Wilson J., Reggin J.D., Mancias P., Butler I.J., Wilkinson M.F., Wegner M., Lupski J.R.
Nat. Genet. 36:361-369(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PCWH.
[16]"Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4."
Bondurand N., Dastot-Le Moal F., Stanchina L., Collot N., Baral V., Marlin S., Attie-Bitach T., Giurgea I., Skopinski L., Reardon W., Toutain A., Sarda P., Echaieb A., Lackmy-Port-Lis M., Touraine R., Amiel J., Goossens M., Pingault V.
Am. J. Hum. Genet. 81:1169-1185(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN WS2E.
[17]"A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV."
Morin M., Vinuela A., Rivera T., Villamar M., Moreno-Pelayo M.A., Moreno F., del Castillo I.
Am. J. Med. Genet. A 146:1032-1037(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT WS4C VAL-157.
[18]"Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation."
Barnett C.P., Mendoza-Londono R., Blaser S., Gillis J., Dupuis L., Levin A.V., Chiang P.W., Spector E., Reardon W.
Am. J. Med. Genet. A 149:431-436(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PCWH PRO-174.
[19]"Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome."
Chaoui A., Watanabe Y., Touraine R., Baral V., Goossens M., Pingault V., Bondurand N.
Hum. Mutat. 32:1436-1449(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WS4C TRP-106; PRO-145 AND VAL-157, VARIANTS WS2E ILE-112 AND HIS-161, VARIANTS PCWH ILE-112; HIS-131; ASN-150; PRO-174; ALA-175; LEU-175; ARG-175 AND ARG-321, CHARACTERIZATION OF VARIANTS WS4C TRP-106; PRO-145 AND VAL-157, CHARACTERIZATION OF VARIANTS WS2E ILE-112 AND HIS-161, CHARACTERIZATION OF VARIANTS PCWH HIS-131; ASN-150; PRO-174; ALA-175; LEU-175 AND ARG-175.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_008872.1. NM_006941.3.
UniGeneHs.376984.

3D structure databases

ProteinModelPortalP56693.
SMRP56693. Positions 102-173.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112546. 7 interactions.
IntActP56693. 7 interactions.
MINTMINT-1781695.
STRING9606.ENSP00000354130.

PTM databases

PhosphoSiteP56693.

Polymorphism databases

DMDM6175075.

Proteomic databases

PaxDbP56693.
PRIDEP56693.

Protocols and materials databases

DNASU6663.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360880; ENSP00000354130; ENSG00000100146.
ENST00000396884; ENSP00000380093; ENSG00000100146.
GeneID6663.
KEGGhsa:6663.
UCSCuc003aun.1. human. [P56693-1]

Organism-specific databases

CTD6663.
GeneCardsGC22M038366.
HGNCHGNC:11190. SOX10.
HPACAB003171.
MIM602229. gene.
609136. phenotype.
611584. phenotype.
613266. phenotype.
neXtProtNX_P56693.
Orphanet478. Kallmann syndrome.
163746. Neurologic Waardenburg-Shah syndrome.
895. Waardenburg syndrome type 2.
897. Waardenburg-Shah syndrome.
PharmGKBPA36027.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295709.
HOGENOMHOG000108876.
HOVERGENHBG002061.
InParanoidP56693.
KOK09270.
OMAPYYGHSS.
PhylomeDBP56693.

Enzyme and pathway databases

SignaLinkP56693.

Gene expression databases

ArrayExpressP56693.
BgeeP56693.
CleanExHS_SOX10.
GenevestigatorP56693.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR022151. Sox_N.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSOX10.
GenomeRNAi6663.
NextBio25977.
PROP56693.
SOURCESearch...

Entry information

Entry nameSOX10_HUMAN
AccessionPrimary (citable) accession number: P56693
Secondary accession number(s): B4DV62, Q6FHW7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: April 16, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM