VSX1

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)
End	25,082,141 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	150,531,280 bp
RNA expression pattern
	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
	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
	30813
	114889
	ENSG00000100987
	ENSMUSG00000033080
	Q9NZR4
	Q91V10
	NM_001256271; NM_001256272; NM_014588; NM_199425; NM_001378633
	NM_054068
	NP_001243200; NP_001243201; NP_055403; NP_955457; NP_001365562
	NP_473409
	Wikidata
View/Edit Human	View/Edit Mouse

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

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 (PPCD) and keratoconus.^[7]^[8] Two transcript variants encoding different isoforms have been found for this gene.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100987 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033080 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics. 63 (2): 289–93. doi:10.1006/geno.1999.6093. PMID 10673340.
^ ^a ^b "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)".
^ Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L (January 2005). "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. doi:10.1167/iovs.04-0533. PMID 15623752. Archived from the original on 2013-04-15. {{cite journal}}: Unknown parameter |dead-url= ignored (|url-status= suggested) (help)
^ Héon E, Greenberg A, Kopp KK, et al. (2002). "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. doi:10.1093/hmg/11.9.1029. PMID 11978762.

References

Further reading