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P56693

- SOX10_HUMAN

UniProt

P56693 - SOX10_HUMAN

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Protein

Transcription factor SOX-10

Gene

SOX10

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi104 – 17269HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. identical protein binding Source: IntAct
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  4. RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
  5. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  6. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  7. transcription coactivator activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. cell maturation Source: Ensembl
  3. developmental growth Source: Ensembl
  4. digestive tract morphogenesis Source: Ensembl
  5. enteric nervous system development Source: Ensembl
  6. in utero embryonic development Source: Ensembl
  7. melanocyte differentiation Source: Ensembl
  8. negative regulation of apoptotic process Source: Ensembl
  9. negative regulation of canonical Wnt signaling pathway Source: Ensembl
  10. negative regulation of transcription, DNA-templated Source: Ensembl
  11. neural crest cell migration Source: Ensembl
  12. oligodendrocyte differentiation Source: Ensembl
  13. peripheral nervous system development Source: Ensembl
  14. positive regulation of gliogenesis Source: Ensembl
  15. positive regulation of neuroblast proliferation Source: Ensembl
  16. regulation of transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP56693.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-10
Gene namesi
Name:SOX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:11190. SOX10.

Subcellular locationi

GO - Cellular componenti

  1. extrinsic component of mitochondrial outer membrane Source: Ensembl
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication
VAR_066748
Natural varianti135 – 1351S → T in WS2E; without neurologic involvement. 1 Publication
VAR_021386
Natural varianti161 – 1611R → H in WS2E; reduced DNA binding capacity. 1 Publication
VAR_066753
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).3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → W in WS4C; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066747
Natural varianti145 – 1451L → P in WS4C; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066750
Natural varianti157 – 1571A → V in WS4C; loss of DNA binding and transactivation capacity. 2 Publications
VAR_066752
Natural varianti161 – 1611R → RLR in WS4C. 1 Publication
VAR_003743
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication
VAR_066748
Natural varianti131 – 1311N → H in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066749
Natural varianti150 – 1501K → N in PCWH; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066751
Natural varianti174 – 1741Q → P in PCWH; without Hirschsprung disease; reduced DNA binding capacity. 2 Publications
VAR_066754
Natural varianti175 – 1751P → A in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066755
Natural varianti175 – 1751P → L in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066756
Natural varianti175 – 1751P → R in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066757
Natural varianti321 – 3211G → R in PCWH. 1 Publication
VAR_066758

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 466466Transcription factor SOX-10PRO_0000048746Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei24 – 241Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP56693.
PRIDEiP56693.

PTM databases

PhosphoSiteiP56693.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP56693.
CleanExiHS_SOX10.
ExpressionAtlasiP56693. baseline and differential.
GenevestigatoriP56693.

Organism-specific databases

HPAiCAB003171.

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. 7 interactions.
IntActiP56693. 7 interactions.
MINTiMINT-1781695.
STRINGi9606.ENSP00000354130.

Structurei

3D structure databases

ProteinModelPortaliP56693.
SMRiP56693. Positions 102-173.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi134 – 14512Nuclear export signalAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi35 – 417Poly-Gly

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG295709.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000108876.
HOVERGENiHBG002061.
InParanoidiP56693.
KOiK09270.
OMAiPYYGHSS.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti222 – 2221P → L in CAG38808. 1 PublicationCurated
Sequence conflicti461 – 4611T → M in CAG38808. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → W in WS4C; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066747
Natural varianti112 – 1121M → I in WS2E and PCWH; increased DNA binding capacity. 1 Publication
VAR_066748
Natural varianti131 – 1311N → H in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066749
Natural varianti135 – 1351S → T in WS2E; without neurologic involvement. 1 Publication
VAR_021386
Natural varianti145 – 1451L → P in WS4C; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066750
Natural varianti150 – 1501K → N in PCWH; loss of DNA binding and transactivation capacity. 1 Publication
VAR_066751
Natural varianti157 – 1571A → V in WS4C; loss of DNA binding and transactivation capacity. 2 Publications
VAR_066752
Natural varianti161 – 1611R → H in WS2E; reduced DNA binding capacity. 1 Publication
VAR_066753
Natural varianti161 – 1611R → RLR in WS4C. 1 Publication
VAR_003743
Natural varianti174 – 1741Q → P in PCWH; without Hirschsprung disease; reduced DNA binding capacity. 2 Publications
VAR_066754
Natural varianti175 – 1751P → A in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066755
Natural varianti175 – 1751P → L in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066756
Natural varianti175 – 1751P → R in PCWH; reduced DNA binding capacity. 1 Publication
VAR_066757
Natural varianti321 – 3211G → R in PCWH. 1 Publication
VAR_066758

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei262 – 441180Missing in isoform 2. 1 PublicationVSP_053874Add
BLAST

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.1. human. [P56693-1]

Polymorphism databases

DMDMi6175075.

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 .
CCDSi CCDS13964.1. [P56693-1 ]
RefSeqi NP_008872.1. NM_006941.3. [P56693-1 ]
UniGenei Hs.376984.

3D structure databases

ProteinModelPortali P56693.
SMRi P56693. Positions 102-173.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112546. 7 interactions.
IntActi P56693. 7 interactions.
MINTi MINT-1781695.
STRINGi 9606.ENSP00000354130.

PTM databases

PhosphoSitei P56693.

Polymorphism databases

DMDMi 6175075.

Proteomic databases

PaxDbi P56693.
PRIDEi P56693.

Protocols and materials databases

DNASUi 6663.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360880 ; ENSP00000354130 ; ENSG00000100146 . [P56693-1 ]
ENST00000396884 ; ENSP00000380093 ; ENSG00000100146 . [P56693-1 ]
GeneIDi 6663.
KEGGi hsa:6663.
UCSCi uc003aun.1. human. [P56693-1 ]

Organism-specific databases

CTDi 6663.
GeneCardsi GC22M038366.
HGNCi HGNC:11190. SOX10.
HPAi CAB003171.
MIMi 602229. gene.
609136. phenotype.
611584. phenotype.
613266. phenotype.
neXtProti NX_P56693.
Orphaneti 478. Kallmann syndrome.
163746. Neurologic Waardenburg-Shah syndrome.
895. Waardenburg syndrome type 2.
897. Waardenburg-Shah syndrome.
PharmGKBi PA36027.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295709.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000108876.
HOVERGENi HBG002061.
InParanoidi P56693.
KOi K09270.
OMAi PYYGHSS.
PhylomeDBi P56693.

Enzyme and pathway databases

SignaLinki P56693.

Miscellaneous databases

GeneWikii SOX10.
GenomeRNAii 6663.
NextBioi 25977.
PROi P56693.
SOURCEi Search...

Gene expression databases

Bgeei P56693.
CleanExi HS_SOX10.
ExpressionAtlasi P56693. baseline and differential.
Genevestigatori P56693.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR022151. Sox_N.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
PF12444. Sox_N. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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.
    , 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.
    , 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. 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. "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.
  15. Cited for: INVOLVEMENT IN WS2E.
  16. "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.
  17. "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.
  18. "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.

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: October 29, 2014
This is version 148 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

External Data

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