Version 5.4
Homo sapiens Gene: SIX1
Summary
InnateDB Gene IDBG-8302.6
Last Modified 2014-10-13 [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
IDBP-8304
SIX homeobox 1
IDBP-596593
SIX homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
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 14:60643415-60658259
Strand Reverse strand
Band q23.1
Transcripts
ENST00000247182 ENSP00000247182
ENST00000555955
ENST00000553535
ENST00000554986 ENSP00000452700
ENST00000555627
Interactions
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 13 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 13 [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-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
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-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048538 thymus development
GO:0048665 neuron fate specification
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
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000051367
View Gene Order
ENSBTAG00000012139
Not yet available
Cross-References
SwissProt Q15475
TrEMBL
UniProt Splice Variant
Entrez Gene 6495
UniGene Hs.630878 Hs.633506 Hs.727889 Hs.734092
RefSeq NM_005982
HUGO HGNC:10887
OMIM 601205
CCDS CCDS9748
HPRD 03125
IMGT
EMBL AF323497 BC008874 BT007083 X91868
GenPept AAH08874 AAK06772 AAP35746 CAA62974
RNA Seq Atlas 6495

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca