SIX1
entrez
6495
canonical
uniprot
Q15475
canonical
ensembl
ENSG00000126778
resolver
ensp
ENSP00000494686
resolver
enst
ENST00000645694
resolver
genesymbol
SIX1
resolver
hgnc
HGNC:10887
resolver
uniprot
Q53Y16
resolver
uniprot
Q96H64
resolver
uniprot_entry
SIX1_HUMAN
resolver
uniprot_sec
Q53Y16
resolver
uniprot_sec
Q96H64
resolver
amino_acid_sequence
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGHARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]: A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. {ECO:0000269|PubMed:15141091, ECO:0000269|PubMed:19497856, ECO:0000269|PubMed:23435380}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Branchiootic syndrome 3 (BOS3) [MIM:608389]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269|PubMed:15141091, ECO:0000269|PubMed:17637804, ECO:0000269|PubMed:18330911, ECO:0000269|PubMed:19497856, ECO:0000269|PubMed:21280147, ECO:0000269|PubMed:23435380}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. {ECO:0000305|PubMed:15141091, ECO:0000305|PubMed:19497856}.
uniprot
proteins
function
FUNCTION: Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as a transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation of EYA1 and EYA2 (PubMed:19497856). Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer (PubMed:15141091, PubMed:19497856, PubMed:23435380, PubMed:27923061). Regulates the expression of numerous genes, including MYC, CCND1 and EZR (By similarity). Acts as an activator of the IGFBP5 promoter, probably coactivated by EYA2 (By similarity). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (By similarity). During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1 (PubMed:15123840). Promotes brown adipocyte differentiation (By similarity). {ECO:0000250|UniProtKB:Q62231, ECO:0000269|PubMed:15123840, ECO:0000269|PubMed:15141091, ECO:0000269|PubMed:19497856, ECO:0000269|PubMed:23435380, ECO:0000269|PubMed:27923061}.
uniprot
proteins
mass_dalton
32210
uniprot
proteins
post_translational_modification
PTM: Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements. {ECO:0000269|PubMed:10801845}.; PTM: Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation. {ECO:0000269|PubMed:17130831}.
uniprot
proteins
protein_family
SIX/Sine oculis homeobox family
uniprot
proteins
pubmed
10801845
uniprot
proteins
pubmed
15123840
uniprot
proteins
pubmed
15141091
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17130831
uniprot
proteins
pubmed
17637804
uniprot
proteins
pubmed
18330911
uniprot
proteins
pubmed
19497856
uniprot
proteins
pubmed
21280147
uniprot
proteins
pubmed
23435380
uniprot
proteins
pubmed
26235987
uniprot
proteins
pubmed
27923061
uniprot
proteins
pubmed
8617500
uniprot
proteins
sequence_length
284
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10801845, ECO:0000269|PubMed:17130831, ECO:0000269|PubMed:19497856}. Cytoplasm.
uniprot
proteins