Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
SIX1 (human)

SIX1 May be involved in limb tendon and ligament development. Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23). A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3). BOS3 is 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 are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients. 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. Belongs to the SIX/Sine oculis homeobox family. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; Cell development/differentiation; DNA-binding
Chromosomal Location of Human Ortholog: 14q23.1
Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleolus; nucleus
Molecular Function: protein binding; DNA binding; sequence-specific DNA binding; chromatin binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; apoptosis; regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; middle ear morphogenesis; negative regulation of transcription from RNA polymerase II promoter; olfactory placode formation; regulation of epithelial cell proliferation; regulation of protein localization; sensory perception of sound; epithelial cell differentiation; regulation of transcription, DNA-dependent; ureteric bud development; induction of an organ; thyroid gland development; neuron fate specification; regulation of synaptic growth at neuromuscular junction; negative regulation of neuron apoptosis; kidney development; inner ear development; inner ear morphogenesis; skeletal muscle development; pharyngeal system development; thymus development; facial nerve morphogenesis; embryonic cranial skeleton morphogenesis; pattern specification process; embryonic skeletal morphogenesis; cell proliferation; ureteric bud branching; generation of neurons; myoblast migration; positive regulation of transcription from RNA polymerase II promoter; regulation of satellite cell proliferation
Disease: Branchiootic Syndrome 3; Deafness, Autosomal Dominant 23; Branchiootorenal Syndrome 1
Reference #:  Q15475 (UniProtKB)
Alt. Names/Synonyms: BOS3; DFNA23; Homeobox protein SIX1; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; TIP39
Gene Symbols: SIX1
Molecular weight: 32,210 Da
Basal Isoelectric point: 9.24  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein

Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.




Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.