VSX1

Also known as CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.

Gene data

VSX1

Name: visual system homeobox 1
Type: protein-coding
Position: 25,070,885–25,082,141 (−)
Aliases: CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
Ensembl: ENSG00000100987
RefSeq RNA: NM_001256271.2, NM_001256272.2, NM_001378633.1, NM_014588.6, NM_199425.3
RefSeq protein: NP_001243200.1, NP_001243201.1, NP_001365562.1, NP_055403.2, NP_955457.1

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 Ontology

Biological process

regulation of DNA-templated transcription regulation of DNA-templated transcription regulation of transcription by RNA polymerase II visual perception neuron development

Molecular function

transcription cis-regulatory region binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding DNA-binding transcription factor activity protein binding sequence-specific double-stranded DNA binding

Cellular component

chromatin nucleus nucleus

via MyGene.info

Wikidata facts

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HomoloGene ID: 8743
exact match: identifiers.org/ncbigene/30813
genomic end: 25082141
genomic start: 25051521
cytogenetic location: 20p11.21

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Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.

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 cone opsin 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 (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.