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Entry version 192 (18 Sep 2019)
Sequence version 1 (15 Jul 1999)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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. Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi104 – 172HMG boxPROSITE-ProRule annotationAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P56693

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P56693

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcription factor SOX-10
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SOX10
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11190 SOX10

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602229 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P56693

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs74315515EnsemblClinVar.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).
Related information in OMIM
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:rs121909117EnsemblClinVar.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.
Related information in OMIM
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:rs267607081EnsemblClinVar.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

DisGeNET

More...
DisGeNETi
6663

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SOX10

MalaCards human disease database

More...
MalaCardsi
SOX10
MIMi609136 phenotype
611584 phenotype
613266 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100146

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
478 Kallmann syndrome
163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
895 Waardenburg syndrome type 2
897 Waardenburg-Shah syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36027

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SOX10

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6175075

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000487461 – 466Transcription factor SOX-10Add BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei24PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P56693

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P56693

MaxQB - The MaxQuant DataBase

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MaxQBi
P56693

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P56693

PeptideAtlas

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PeptideAtlasi
P56693

PRoteomics IDEntifications database

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PRIDEi
P56693

ProteomicsDB human proteome resource

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ProteomicsDBi
5245
56933 [P56693-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P56693

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P56693

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100146 Expressed in 177 organ(s), highest expression level in inferior olivary complex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P56693 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P56693 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB003171
HPA068898

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

Interacts with ARMCX3 at the mitochondrial outer membrane surface.

Interacts with PAX3 (PubMed:21965087).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112546, 9 interactors

Protein interaction database and analysis system

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IntActi
P56693, 14 interactors

Molecular INTeraction database

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MINTi
P56693

STRING: functional protein association networks

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STRINGi
9606.ENSP00000380093

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P56693

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi134 – 145Nuclear export signalAdd BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 41Poly-Gly7

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0527 Eukaryota
ENOG410XT0K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158046

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000108876

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P56693

KEGG Orthology (KO)

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KOi
K09270

Identification of Orthologs from Complete Genome Data

More...
OMAi
YADQPST

Database of Orthologous Groups

More...
OrthoDBi
782373at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P56693

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.30.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR022151 Sox_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00505 HMG_box, 1 hit
PF12444 Sox_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47095 SSF47095, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6PVD3A6PVD3_HUMAN
Transcription factor SOX-10
SOX10
213Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y5N4H0Y5N4_HUMAN
Transcription factor SOX-10
SOX10
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0R1A0A494C0R1_HUMAN
Transcription factor SOX-10
SOX10
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs74315515EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1463736052Ensembl.1
Natural variantiVAR_066752157A → V in WS4C; loss of DNA binding and transactivation capacity. 2 PublicationsCorresponds to variant dbSNP:rs121909117EnsemblClinVar.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:rs267607081EnsemblClinVar.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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_053874262 – 441Missing in isoform 2. 1 PublicationAdd BLAST180

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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 No translation available.
BC002824 mRNA Translation: AAH02824.1
BC007595 mRNA Translation: AAH07595.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13964.1 [P56693-1]

NCBI Reference Sequences

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RefSeqi
NP_008872.1, NM_006941.3 [P56693-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360880; ENSP00000354130; ENSG00000100146 [P56693-1]
ENST00000396884; ENSP00000380093; ENSG00000100146 [P56693-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6663

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6663

UCSC genome browser

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UCSCi
uc003aun.2 human [P56693-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 No translation available.
BC002824 mRNA Translation: AAH02824.1
BC007595 mRNA Translation: AAH07595.1
CCDSiCCDS13964.1 [P56693-1]
RefSeqiNP_008872.1, NM_006941.3 [P56693-1]

3D structure databases

SMRiP56693
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112546, 9 interactors
IntActiP56693, 14 interactors
MINTiP56693
STRINGi9606.ENSP00000380093

PTM databases

iPTMnetiP56693
PhosphoSitePlusiP56693

Polymorphism and mutation databases

BioMutaiSOX10
DMDMi6175075

Proteomic databases

jPOSTiP56693
MassIVEiP56693
MaxQBiP56693
PaxDbiP56693
PeptideAtlasiP56693
PRIDEiP56693
ProteomicsDBi5245
56933 [P56693-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6663
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

Comparative Toxicogenomics Database

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CTDi
6663
DisGeNETi6663

GeneCards: human genes, protein and diseases

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GeneCardsi
SOX10
GeneReviewsiSOX10
HGNCiHGNC:11190 SOX10
HPAiCAB003171
HPA068898
MalaCardsiSOX10
MIMi602229 gene
609136 phenotype
611584 phenotype
613266 phenotype
neXtProtiNX_P56693
OpenTargetsiENSG00000100146
Orphaneti478 Kallmann syndrome
163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
895 Waardenburg syndrome type 2
897 Waardenburg-Shah syndrome
PharmGKBiPA36027

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00940000158046
HOGENOMiHOG000108876
InParanoidiP56693
KOiK09270
OMAiYADQPST
OrthoDBi782373at2759
PhylomeDBiP56693

Enzyme and pathway databases

SignaLinkiP56693
SIGNORiP56693

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SOX10

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6663

Pharos

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Pharosi
P56693

Protein Ontology

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PROi
PR:P56693

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100146 Expressed in 177 organ(s), highest expression level in inferior olivary complex
ExpressionAtlasiP56693 baseline and differential
GenevisibleiP56693 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSOX10_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P56693
Secondary accession number(s): B4DV62, Q6FHW7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: September 18, 2019
This is version 192 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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