VSX1

VSX1
Identifiers
Aliases	VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
External IDs	MGI: 1890816 HomoloGene: 8743 GeneCards: VSX1
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • sequence-specific DNA binding • DNA binding • chromatin binding • transcription regulatory region DNA binding Cellular component • cellular component • nucleus 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	30813	114889
Ensembl	ENSG00000100987	ENSMUSG00000033080
UniProt	Q9NZR4	Q91V10
RefSeq (mRNA)	NM_001256271 NM_001256272 NM_014588 NM_199425	NM_054068
RefSeq (protein)	NP_001243200.1 NP_001243201.1 NP_055403.2 NP_955457.1	NP_473409.1
Location (UCSC)	Chr 20: 25.07 – 25.08 Mb	Chr 2: 150.68 – 150.69 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.^[3][4]

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.^[5][6] Two transcript variants encoding different isoforms have been found for this gene.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)".
5. 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.
6. 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.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Hayashi T, Huang J, Deeb SS (2000). "RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina". Genomics. 67 (2): 128–39. doi:10.1006/geno.2000.6248. PMID 10903837.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mintz-Hittner HA, Semina EV, Frishman LJ, et al. (2004). "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells". Ophthalmology. 111 (4): 828–36. doi:10.1016/j.ophtha.2003.07.006. PMID 15051220.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Bisceglia L, Ciaschetti M, De Bonis P, et al. (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.
• Dorval KM, Bobechko BP, Ahmad KF, Bremner R (2005). "Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1". J. Biol. Chem. 280 (11): 10100–8. doi:10.1074/jbc.M412676200. PMID 15647262.
• Valleix S, Nedelec B, Rigaudiere F, et al. (2006). "H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family". Invest. Ophthalmol. Vis. Sci. 47 (1): 48–54. doi:10.1167/iovs.05-0479. PMID 16384943.
• Aldave AJ, Yellore VS, Salem AK, et al. (2006). "No VSX1 gene mutations associated with keratoconus". Invest. Ophthalmol. Vis. Sci. 47 (7): 2820–2. doi:10.1167/iovs.05-1530. PMID 16799019.
• Barbaro V, Di Iorio E, Ferrari S, et al. (2007). "Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing". Invest. Ophthalmol. Vis. Sci. 47 (12): 5243–50. doi:10.1167/iovs.06-0185. PMID 17122109.
• Liskova P, Ebenezer ND, Hysi PG, et al. (2007). "Molecular analysis of the VSX1 gene in familial keratoconus". Mol. Vis. 13: 1887–91. PMID 17960127.