Homo sapiens Gene: VSX1
InnateDB Gene IDBG-61056.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VSX1
Gene Name visual system homeobox 1
Species Homo sapiens
Ensembl Gene ENSG00000100987
Encoded Proteins
visual system homeobox 1
visual system homeobox 1
visual system homeobox 1
visual system homeobox 1
visual system homeobox 1
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
ENST00000376709 ENSP00000365899
ENST00000376707 ENSP00000365897
ENST00000409285 ENSP00000386612
ENST00000409958 ENSP00000387069
ENST00000429762 ENSP00000401690
ENST00000444511 ENSP00000387720
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
Mus musculus
Bos taurus
Gene ID
Gene Order
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
SwissProt Q9NZR4
UniProt Splice Variant
Entrez Gene 30813
UniGene Hs.274264
RefSeq NM_001256271 NM_001256272 NM_014588 NM_199425
OMIM 605020
CCDS CCDS13168 CCDS13169 CCDS58766 CCDS58767
HPRD 09232
EMBL AF176797 AF251033 AF251034 AL080312 BC126228 BC136497 DQ854807 DQ854808 DQ854809 DQ854810 DQ854811 DQ854812 GU138372
GenPept AAF37425 AAF99656 AAF99657 AAI26229 AAI36498 ABI23973 ABI23974 ABI23975 ABI23976 ABI23977 ABI23978 ACZ01961 CAI18918 CAX15203 CAX15204 CAX15205
RNA Seq Atlas 30813