SOX4
entrez
6659
canonical
uniprot
Q06945
canonical
ensembl
ENSG00000124766
resolver
ensp
ENSP00000244745
resolver
enst
ENST00000244745
resolver
genesymbol
SOX4
resolver
hgnc
HGNC:11200
resolver
uniprot_entry
SOX4_HUMAN
resolver
amino_acid_sequence
MVQQTNNAENTEALLAGESSDSGAGLELGIASSPTPGSTASTGGKADDPSWCKTPSGHIKRPMNAFMVWSQIERRKIMEQSPDMHNAEISKRLGKRWKLLKDSDKIPFIREAERLRLKHMADYPDYKYRPRKKVKSGNANSSSSAAASSKPGEKGDKVGGSGGGGHGGGGGGGSSNAGGGGGGASGGGANSKPAQKKSCGSKVAGGAGGGVSKPHAKLILAGGGGGGKAAAAAAASFAAEQAGAAALLPLGAAADHHSLYKARTPSASASASSAASASAALAAPGKHLAEKKVKRVYLFGGLGTSSSPVGGVGAGADPSDPLGLYEEEGAGCSPDAPSLSGRSSAASSPAAGRSPADHRGYASLRAASPAPSSAPSHASSSASSHSSSSSSSGSSSSDDEFEDDLLDLNPSSNFESMSLGSFSSSSALDRDLDFNFEPGSGSHFEFPDYCTPEVSEMISGDWLESSISNLVFTY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) [MIM:618506]: An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. {ECO:0000269|PubMed:30661772}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311). {ECO:0000250|UniProtKB:Q06831, ECO:0000269|PubMed:26291311, ECO:0000269|PubMed:30661772}.
uniprot
proteins
mass_dalton
47263
uniprot
proteins
mutagenesis
MUTAGEN 45; /note="K->R: Does not affect acetylation by KAT5."; /evidence="ECO:0000269|PubMed:26291311"; MUTAGEN 95; /note="K->R: Abolished acetylation by KAT5."; /evidence="ECO:0000269|PubMed:26291311
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-95 by KAT5 promotes the transcription activator activity and is required during myoblast differentiation (PubMed:26291311). Acetylation by KAT5 abolishes the interaction between SOX4 and HDAC1 and switches SOX4 into a transcriptional activator (PubMed:26291311). {ECO:0000269|PubMed:26291311}.
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1614875
uniprot
proteins
pubmed
16631117
uniprot
proteins
pubmed
26291311
uniprot
proteins
pubmed
30661772
uniprot
proteins
pubmed
34342803
uniprot
proteins
pubmed
8268656
uniprot
proteins
sequence_length
474
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:16631117}.
uniprot
proteins