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
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000100987 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033080 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)".
7. 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.
8. 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. 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. PMC 5466152. PMID 17960127.