Version 5.4
Homo sapiens Gene: VSX1
Summary
InnateDB Gene IDBG-61056.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VSX1
Gene Name visual system homeobox 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000100987
Encoded Proteins
IDBP-61058
visual system homeobox 1
IDBP-61060
visual system homeobox 1
IDBP-294453
visual system homeobox 1
IDBP-294457
visual system homeobox 1
IDBP-369560
visual system homeobox 1
IDBP-369564
visual system homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:25070885-25082365
Strand Reverse strand
Band p11.21
Transcripts
ENST00000376709 ENSP00000365899
ENST00000376707 ENSP00000365897
ENST00000409285 ENSP00000386612
ENST00000409958 ENSP00000387069
ENST00000429762 ENSP00000401690
ENST00000444511 ENSP00000387720
ENST00000557285
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007601 visual perception
GO:0042551 neuron maturation
GO:0048666 neuron development
GO:0050896 response to stimulus
GO:0060040 retinal bipolar neuron differentiation
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000033080
View Gene Order
ENSBTAG00000003335
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.274264
RefSeq NM_001256271 NM_001256272 NM_014588 NM_199425
HUGO
OMIM
CCDS CCDS13168 CCDS13169 CCDS58766 CCDS58767
HPRD 09232
IMGT
EMBL
GenPept
RNA Seq Atlas

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