P35712 · SOX6_HUMAN
- ProteinTranscription factor SOX-6
- GeneSOX6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids828 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 621-689 | HMG box | ||||
Sequence: IKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKSMSNQEKQPYYEEQARLSKIHLEKYPNYK |
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-6
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP35712
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Tolchin-Le Caignec syndrome (TOLCAS)
- Note
- DescriptionAn autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference.
- See alsoMIM:618971
Natural variants in TOLCAS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084739 | 81-828 | missing | in TOLCAS | |
VAR_084740 | 93-828 | missing | in TOLCAS | |
VAR_084741 | 98-828 | missing | in TOLCAS | |
VAR_084742 | 161 | W>C | in TOLCAS; uncertain significance | |
VAR_084743 | 240-828 | missing | in TOLCAS | |
VAR_084744 | 625 | M>T | in TOLCAS; uncertain significance | |
VAR_084745 | 659 | W>R | in TOLCAS; uncertain significance | |
VAR_084746 | 766 | S>L | in TOLCAS; uncertain significance |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_084739 | 81-828 | in TOLCAS | |||
Sequence: Missing | ||||||
Natural variant | VAR_084740 | 93-828 | in TOLCAS | |||
Sequence: Missing | ||||||
Natural variant | VAR_084741 | 98-828 | in TOLCAS | |||
Sequence: Missing | ||||||
Natural variant | VAR_084742 | 161 | in TOLCAS; uncertain significance | |||
Sequence: W → C | ||||||
Natural variant | VAR_084743 | 240-828 | in TOLCAS | |||
Sequence: Missing | ||||||
Mutagenesis | 404 | Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417. | ||||
Sequence: K → R | ||||||
Mutagenesis | 417 | Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404. | ||||
Sequence: K → R | ||||||
Natural variant | VAR_084744 | 625 | in TOLCAS; uncertain significance | |||
Sequence: M → T | ||||||
Natural variant | VAR_084745 | 659 | in TOLCAS; uncertain significance | |||
Sequence: W → R | ||||||
Natural variant | VAR_084746 | 766 | in TOLCAS; uncertain significance | |||
Sequence: S → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 986 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, cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000048729 | 1-828 | UniProt | Transcription factor SOX-6 | |||
Sequence: MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVSTIQQDADWDSVLSSQQRMESENNKLCSLYSFRNTSTSPHKPDEGSRDREIMTSVTFGTPERRKGSLADVVDTLKQKKLEEMTRTEQEDSSCMEKLLSKDWKEKMERLNTSELLGEIKGTPESLAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQQMDLARQQQEQIARQQQQLLQQQHKINLLQQQIQVQGHMPPLMIPIFPHDQRTLAAAAAAQQGFLFPPGITYKPGDNYPVQFIPSTMAAAAASGLSPLQLQKGHVSHPQINQRLKGLSDRFGRNLDTFEHGGGHSYNHKQIEQLYAAQLASMQVSPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEAAAQPLNLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGGSLGRGSSLDILSSLNSPALFGDQDTVMKAIQEARKMREQIQREQQQQQPHGVDGKLSSINNMGLNSCRNEKERTRFENLGPQLTGKSNEDGKLGPGVIDLTRPEDAEGSKAMNGSAAKLQQYYCWPTGGATVAEARVYRDARGRASSEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKSMSNQEKQPYYEEQARLSKIHLEKYPNYKYKPRPKRTCIVDGKKLRIGEYKQLMRSRRQEMRQFFTVGQQPQIPITTGTGVVYPGAITMATTTPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAVSAN | |||||||
Modified residue (large scale data) | 8 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 98 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 119 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 119 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 126 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 399 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 399 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 401 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Cross-link | 404 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 411 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 417 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) | ||||
Sequence: K | |||||||
Modified residue | 439 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 439 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 441 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 442 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 442 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 454 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 466 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Developmental stage
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with DAZAP2 (By similarity).
May interact with CENPK (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P35712 | SHOX O15266 | 3 | EBI-3505706, EBI-3505698 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-51 | Disordered | ||||
Sequence: MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKP | ||||||
Compositional bias | 21-37 | Basic and acidic residues | ||||
Sequence: TQDLTSREKEEGSDQHV | ||||||
Coiled coil | 184-262 | |||||
Sequence: LAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQQMDLARQQQEQIARQQQQLLQQQHKINLLQQQIQVQG | ||||||
Compositional bias | 380-410 | Polar residues | ||||
Sequence: SPGAKMPSTPQPPNTAGTVSPTGIKNEKRGT | ||||||
Region | 380-470 | Disordered | ||||
Sequence: SPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEAAAQPLNLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGG | ||||||
Compositional bias | 426-470 | Polar residues | ||||
Sequence: NLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGG | ||||||
Compositional bias | 753-785 | Polar residues | ||||
Sequence: TPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTD | ||||||
Region | 753-828 | Disordered | ||||
Sequence: TPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAVSAN | ||||||
Compositional bias | 798-813 | Acidic residues | ||||
Sequence: EDEMEMYDDYEDDPKS |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
P35712-1
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
- Length828
- Mass (Da)91,921
- Last updated2008-11-25 v3
- Checksum38CA781528C839CF
P35712-2
- Name2
P35712-3
- Name3
- Differences from canonical
- 578-597: Missing
P35712-4
- Name4
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_039693 | 1 | in isoform 2 | |||
Sequence: M → MGRM | ||||||
Compositional bias | 21-37 | Basic and acidic residues | ||||
Sequence: TQDLTSREKEEGSDQHV | ||||||
Alternative sequence | VSP_039694 | 327-367 | in isoform 2 and isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 330 | in Ref. 1; AAK26115 | ||||
Sequence: V → A | ||||||
Compositional bias | 380-410 | Polar residues | ||||
Sequence: SPGAKMPSTPQPPNTAGTVSPTGIKNEKRGT | ||||||
Compositional bias | 426-470 | Polar residues | ||||
Sequence: NLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGG | ||||||
Alternative sequence | VSP_039695 | 477 | in isoform 2 and isoform 4 | |||
Sequence: S → SLGKWKSQHQEETYE | ||||||
Alternative sequence | VSP_039696 | 578-597 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 633 | in Ref. 6; CAA46614 | ||||
Sequence: K → R | ||||||
Compositional bias | 753-785 | Polar residues | ||||
Sequence: TPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTD | ||||||
Compositional bias | 798-813 | Acidic residues | ||||
Sequence: EDEMEMYDDYEDDPKS |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF309034 EMBL· GenBank· DDBJ | AAK26115.1 EMBL· GenBank· DDBJ | mRNA | ||
AF309476 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309471 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309472 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309473 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309474 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309475 EMBL· GenBank· DDBJ | AAK26243.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309476 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309471 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309472 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309473 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309474 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF309475 EMBL· GenBank· DDBJ | AAK26244.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL136780 EMBL· GenBank· DDBJ | CAB66714.1 EMBL· GenBank· DDBJ | mRNA | ||
AC009869 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC013595 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC027016 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC068405 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC103794 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471064 EMBL· GenBank· DDBJ | EAW68458.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC037866 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
BC047064 EMBL· GenBank· DDBJ | AAH47064.2 EMBL· GenBank· DDBJ | mRNA | ||
X65663 EMBL· GenBank· DDBJ | CAA46614.1 EMBL· GenBank· DDBJ | mRNA |