VSX1

Protein-coding gene in the species Homo sapiens
VSX1
Identifiers
AliasesVSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
External IDsOMIM: 605020; MGI: 1890816; HomoloGene: 8743; GeneCards: VSX1; OMA:VSX1 - orthologs
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for VSX1
Genomic location for VSX1
Band20p11.21Start25,070,885 bp[1]
End25,082,141 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for VSX1
Genomic location for VSX1
Band2 G3|2 74.74 cMStart150,522,622 bp[2]
End150,531,280 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 2: 150.52 – 150.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000100987 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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