SOX6
entrez
55553
canonical
uniprot
P35712
canonical
ensembl
ENSG00000110693
resolver
ensp
ENSP00000379644
resolver
ensp
ENSP00000432134
resolver
ensp
ENSP00000433233
resolver
ensp
ENSP00000434455
resolver
ensp
ENSP00000507545
resolver
ensp
ENSP00000557127
resolver
genesymbol
SOX6
resolver
hgnc
HGNC:16421
resolver
uniprot
Q86VX7
resolver
uniprot
Q9BXQ3
resolver
uniprot
Q9BXQ4
resolver
uniprot
Q9BXQ5
resolver
uniprot
Q9H0I8
resolver
uniprot_entry
SOX6_HUMAN
resolver
uniprot_sec
Q86VX7
resolver
uniprot_sec
Q9BXQ3
resolver
uniprot_sec
Q9BXQ4
resolver
uniprot_sec
Q9BXQ5
resolver
uniprot_sec
Q9H0I8
resolver
amino_acid_sequence
MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVSTIQQDADWDSVLSSQQRMESENNKLCSLYSFRNTSTSPHKPDEGSRDREIMTSVTFGTPERRKGSLADVVDTLKQKKLEEMTRTEQEDSSCMEKLLSKDWKEKMERLNTSELLGEIKGTPESLAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQQMDLARQQQEQIARQQQQLLQQQHKINLLQQQIQVQGHMPPLMIPIFPHDQRTLAAAAAAQQGFLFPPGITYKPGDNYPVQFIPSTMAAAAASGLSPLQLQKGHVSHPQINQRLKGLSDRFGRNLDTFEHGGGHSYNHKQIEQLYAAQLASMQVSPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEAAAQPLNLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGGSLGRGSSLDILSSLNSPALFGDQDTVMKAIQEARKMREQIQREQQQQQPHGVDGKLSSINNMGLNSCRNEKERTRFENLGPQLTGKSNEDGKLGPGVIDLTRPEDAEGSKAMNGSAAKLQQYYCWPTGGATVAEARVYRDARGRASSEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKSMSNQEKQPYYEEQARLSKIHLEKYPNYKYKPRPKRTCIVDGKKLRIGEYKQLMRSRRQEMRQFFTVGQQPQIPITTGTGVVYPGAITMATTTPSPQMTSDCSSTSASPEPSLPVIQSTYGMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAVSAN
uniprot
proteins
disease_involvement
DISEASE: Tolchin-Le Caignec syndrome (TOLCAS) [MIM:618971]: An 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. {ECO:0000269|PubMed:32442410}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity). {ECO:0000250|UniProtKB:P40645, ECO:0000305|PubMed:32442410}.
uniprot
proteins
mass_dalton
91921
uniprot
proteins
mutagenesis
MUTAGEN 404; /note="K->R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-417."; /evidence="ECO:0000269|PubMed:16442531"; MUTAGEN 417; /note="K->R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-404."; /evidence="ECO:0000269|PubMed:16442531
uniprot
proteins
post_translational_modification
PTM: Sumoylation inhibits the transcriptional activity. {ECO:0000269|PubMed:16442531}.
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11255018
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1614875
uniprot
proteins
pubmed
16442531
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32442410
uniprot
proteins
sequence_length
828
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:16442531}. Cytoplasm {ECO:0000250|UniProtKB:P40645}.
uniprot
proteins