VSX1

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.^[5][6]

VSX1
Identifiers
Aliases	VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
External IDs	OMIM: 605020; MGI: 1890816; HomoloGene: 8743; GeneCards: VSX1; OMA:VSX1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p11.21 Start 25,070,885 bp[1] End 25,082,141 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 G3|2 74.74 cM Start 150,522,622 bp[2] End 150,531,280 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum testicle buccal mucosa cell anterior pituitary amygdala hypothalamus anterior cingulate cortex substantia nigra nucleus accumbens Top expressed in neural layer of retina embryo morula gastrula blastocyst pituitary gland neural tube lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding chromatin binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus cellular component Biological process multicellular organism development transcription, DNA-templated response to stimulus visual perception neuron maturation retinal bipolar neuron differentiation regulation of transcription, DNA-templated neuron development regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 30813 114889 Ensembl ENSG00000100987 ENSMUSG00000033080 UniProt Q9NZR4 Q91V10 RefSeq (mRNA) NM_001256271 NM_001256272 NM_014588 NM_199425 NM_001378633 NM_054068 RefSeq (protein) NP_001243200 NP_001243201 NP_055403 NP_955457 NP_001365562 NP_473409 Location (UCSC) Chr 20: 25.07 – 25.08 Mb Chr 2: 150.52 – 150.53 Mb PubMed search [3] [4]
Wikidata
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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.^[7][8] Two transcript variants encoding different isoforms have been found for this gene.^[6]