Homo sapiens Gene: SIX1
InnateDB Gene IDBG-8302.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol SIX1
Gene Name SIX homeobox 1
Synonyms BOS3; DFNA23; TIP39;
Species Homo sapiens
Ensembl Gene ENSG00000126778
Encoded Proteins
SIX homeobox 1
SIX homeobox 1
SIX homeobox 1
SIX homeobox 1
Protein Structure
Entrez Gene
Summary The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:61110132-61124977
Strand Reverse strand
Band q23.1
ENST00000247182 ENSP00000247182
ENST00000555955 ENSP00000450952
ENST00000553535 ENSP00000450739
ENST00000554986 ENSP00000452700
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001759 organ induction
GO:0001822 kidney development
GO:0003151 outflow tract morphogenesis
GO:0006351 transcription, DNA-dependent
GO:0006355 regulation of transcription, DNA-dependent
GO:0007389 pattern specification process
GO:0007519 skeletal muscle tissue development
GO:0007605 sensory perception of sound
GO:0008582 regulation of synaptic growth at neuromuscular junction
GO:0010468 regulation of gene expression
GO:0021610 facial nerve morphogenesis
GO:0030855 epithelial cell differentiation
GO:0030878 thyroid gland development
GO:0032880 regulation of protein localization
GO:0034504 protein localization to nucleus
GO:0035909 aorta morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0043524 negative regulation of neuron apoptotic process
GO:0045664 regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-dependent
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048538 thymus development
GO:0048699 generation of neurons
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048839 inner ear development
GO:0048856 anatomical structure development
GO:0051451 myoblast migration
GO:0060037 pharyngeal system development
GO:0071599 otic vesicle development
GO:0072001 renal system development
GO:0072075 metanephric mesenchyme development
GO:0072095 regulation of branch elongation involved in ureteric bud branching
GO:0072107 positive regulation of ureteric bud formation
GO:0072172 mesonephric tubule formation
GO:0072193 ureter smooth muscle cell differentiation
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:0090103 cochlea morphogenesis
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:0090191 negative regulation of branching involved in ureteric bud morphogenesis
GO:2000729 positive regulation of mesenchymal cell proliferation involved in ureter development
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005730 nucleolus
Mus musculus
Bos taurus
Gene ID
Gene Order
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
SwissProt Q15475
TrEMBL G3V300 H0YK85
UniProt Splice Variant
Entrez Gene 6495
UniGene Hs.630878 Hs.633506 Hs.727889 Hs.734092
RefSeq NM_005982
HUGO 10887
OMIM 601205
HPRD 03125
EMBL AF323497 AL049874 BC008874 BT007083 X91868
GenPept AAH08874 AAK06772 AAP35746 CAA62974
ImmGen SIX1 (murine)
RNA Seq Atlas 6495