P56693 · SOX10_HUMAN
- ProteinTranscription factor SOX-10
- GeneSOX10
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids466 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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 (By similarity).
Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity).
Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087).
Transcriptional activator of MBP, via binding to the gene promoter (By similarity).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 104-172 | HMG box | ||||
Sequence: VKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYK |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor SOX-10
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP56693
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Waardenburg syndrome 2E (WS2E)
- Note
- 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 alsoMIM:611584
Natural variants in WS2E
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066748 | 112 | M>I | in WS2E and PCWH; increased DNA binding capacity | |
VAR_021386 | 135 | S>T | in WS2E; without neurologic involvement; dbSNP:rs74315515 | |
VAR_066753 | 161 | R>H | in WS2E; reduced DNA binding capacity; dbSNP:rs750566714 |
Waardenburg syndrome 4C (WS4C)
- Note
- 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 alsoMIM:613266
Natural variants in WS4C
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066747 | 106 | R>W | in WS4C; loss of DNA binding and transactivation capacity | |
VAR_066750 | 145 | L>P | in WS4C; loss of DNA binding and transactivation capacity | |
VAR_066752 | 157 | A>V | in WS4C; loss of DNA binding and transactivation capacity; dbSNP:rs121909117 | |
VAR_003743 | 161 | R>RLR | in WS4C |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)
- Note
- DescriptionA complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
- See alsoMIM:609136
Natural variants in PCWH
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066748 | 112 | M>I | in WS2E and PCWH; increased DNA binding capacity | |
VAR_066749 | 131 | N>H | in PCWH; reduced DNA binding capacity | |
VAR_066751 | 150 | K>N | in PCWH; loss of DNA binding and transactivation capacity | |
VAR_066754 | 174 | Q>P | in PCWH; without Hirschsprung disease; reduced DNA binding capacity; dbSNP:rs267607081 | |
VAR_066755 | 175 | P>A | in PCWH; reduced DNA binding capacity | |
VAR_066756 | 175 | P>L | in PCWH; reduced DNA binding capacity | |
VAR_066757 | 175 | P>R | in PCWH; reduced DNA binding capacity | |
VAR_066758 | 321 | G>R | in PCWH |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_066747 | 106 | in WS4C; loss of DNA binding and transactivation capacity | |||
Sequence: R → W | ||||||
Natural variant | VAR_072981 | 108 | found in a patient with Kallmann syndrome | |||
Sequence: M → T | ||||||
Natural variant | VAR_072982 | 111 | found in a patient with Kallmann syndrome | |||
Sequence: F → V | ||||||
Natural variant | VAR_066748 | 112 | in WS2E and PCWH; increased DNA binding capacity | |||
Sequence: M → I | ||||||
Natural variant | VAR_066749 | 131 | in PCWH; reduced DNA binding capacity | |||
Sequence: N → H | ||||||
Natural variant | VAR_072983 | 135 | found in a patient with Kallmann syndrome | |||
Sequence: S → G | ||||||
Natural variant | VAR_021386 | 135 | in WS2E; without neurologic involvement; dbSNP:rs74315515 | |||
Sequence: S → T | ||||||
Natural variant | VAR_066750 | 145 | in WS4C; loss of DNA binding and transactivation capacity | |||
Sequence: L → P | ||||||
Natural variant | VAR_066751 | 150 | in PCWH; loss of DNA binding and transactivation capacity | |||
Sequence: K → N | ||||||
Natural variant | VAR_072984 | 151 | found in a patient with Kallmann syndrome; dbSNP:rs1463736052 | |||
Sequence: R → C | ||||||
Natural variant | VAR_066752 | 157 | in WS4C; loss of DNA binding and transactivation capacity; dbSNP:rs121909117 | |||
Sequence: A → V | ||||||
Natural variant | VAR_072985 | 161 | found in a patient with Kallmann syndrome | |||
Sequence: R → C | ||||||
Natural variant | VAR_066753 | 161 | in WS2E; reduced DNA binding capacity; dbSNP:rs750566714 | |||
Sequence: R → H | ||||||
Natural variant | VAR_003743 | 161 | in WS4C | |||
Sequence: R → RLR | ||||||
Natural variant | VAR_066754 | 174 | in PCWH; without Hirschsprung disease; reduced DNA binding capacity; dbSNP:rs267607081 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_066755 | 175 | in PCWH; reduced DNA binding capacity | |||
Sequence: P → A | ||||||
Natural variant | VAR_066756 | 175 | in PCWH; reduced DNA binding capacity | |||
Sequence: P → L | ||||||
Natural variant | VAR_066757 | 175 | in PCWH; reduced DNA binding capacity | |||
Sequence: P → R | ||||||
Natural variant | VAR_066758 | 321 | in PCWH | |||
Sequence: G → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 659 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000048746 | 1-466 | UniProt | Transcription factor SOX-10 | |||
Sequence: MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP | |||||||
Modified residue (large scale data) | 8 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 13 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 17 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 24 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 24 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 27 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 30 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 40 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 45 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 449 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 451 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 453 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-67 | Disordered | ||||
Sequence: MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDK | ||||||
Compositional bias | 53-67 | Basic and acidic residues | ||||
Sequence: KVKKEQQDGEADDDK | ||||||
Region | 62-102 | Dimerization (DIM) | ||||
Sequence: EADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKP | ||||||
Motif | 134-145 | Nuclear export signal | ||||
Sequence: LSKTLGKLWRLL | ||||||
Compositional bias | 160-184 | Basic and acidic residues | ||||
Sequence: LRMQHKKDHPDYKYQPRRRKNGKAA | ||||||
Region | 160-199 | Disordered | ||||
Sequence: LRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGG | ||||||
Region | 212-274 | Disordered | ||||
Sequence: LDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFG | ||||||
Region | 228-310 | Transactivation domain (TAM) | ||||
Sequence: PEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHV | ||||||
Compositional bias | 251-266 | Basic and acidic residues | ||||
Sequence: SGKADPKRDGRSMGEG | ||||||
Region | 353-466 | Transactivation domain (TAC) | ||||
Sequence: KAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP | ||||||
Region | 354-375 | Disordered | ||||
Sequence: AQVKTETAGPQGPPHYTDQPST | ||||||
Region | 433-466 | Disordered | ||||
Sequence: RPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP | ||||||
Compositional bias | 436-466 | Polar residues | ||||
Sequence: YTAISDPSPSGPQSHSPTHWEQPVYTTLSRP |
Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
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.
- Name1
- Length466
- Mass (Da)49,911
- Last updated1999-07-15 v1
- ChecksumFAA1EC108D4DE6A1
P56693-2
- Name2
- Differences from canonical
- 262-441: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0Y5N4 | H0Y5N4_HUMAN | SOX10 | 179 | ||
A0A494C0R1 | A0A494C0R1_HUMAN | SOX10 | 73 | ||
A0A8V8TM01 | A0A8V8TM01_HUMAN | SOX10 | 538 | ||
A0A8I5KW15 | A0A8I5KW15_HUMAN | SOX10 | 143 | ||
A6PVD3 | A6PVD3_HUMAN | SOX10 | 213 |
Features
Showing features for compositional bias, sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 53-67 | Basic and acidic residues | ||||
Sequence: KVKKEQQDGEADDDK | ||||||
Compositional bias | 160-184 | Basic and acidic residues | ||||
Sequence: LRMQHKKDHPDYKYQPRRRKNGKAA | ||||||
Sequence conflict | 222 | in Ref. 5; CAG38808 | ||||
Sequence: P → L | ||||||
Compositional bias | 251-266 | Basic and acidic residues | ||||
Sequence: SGKADPKRDGRSMGEG | ||||||
Alternative sequence | VSP_053874 | 262-441 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 436-466 | Polar residues | ||||
Sequence: YTAISDPSPSGPQSHSPTHWEQPVYTTLSRP | ||||||
Sequence conflict | 461 | in Ref. 5; CAG38808 | ||||
Sequence: T → M |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ001183 EMBL· GenBank· DDBJ | CAA04576.1 EMBL· GenBank· DDBJ | mRNA | ||
CR456584 EMBL· GenBank· DDBJ | CAG30470.1 EMBL· GenBank· DDBJ | mRNA | ||
BT020029 EMBL· GenBank· DDBJ | AAV38832.1 EMBL· GenBank· DDBJ | mRNA | ||
AK300945 EMBL· GenBank· DDBJ | BAG62574.1 EMBL· GenBank· DDBJ | mRNA | ||
CR536571 EMBL· GenBank· DDBJ | CAG38808.1 EMBL· GenBank· DDBJ | mRNA | ||
AL031587 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC002824 EMBL· GenBank· DDBJ | AAH02824.1 EMBL· GenBank· DDBJ | mRNA | ||
BC007595 EMBL· GenBank· DDBJ | AAH07595.1 EMBL· GenBank· DDBJ | mRNA |