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VSX1

From Wikipedia, the free encyclopedia
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
Band20p11.21Start25,070,885bp[1]
End25,082,141bp[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 cMStart150,522,622bp[2]
End150,531,280bp[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
Cellular component
Biological process
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 aprotein that in humans is encoded by theVSX1gene.[5][6]

Theprotein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of thered/green coneopsin gene cluster. The encoded protein may regulate expression of thecone opsin genes early in development.Mutations in this gene can causeposterior polymorphous corneal dystrophy (PPCD) andkeratoconus.[7][8] Two transcript variants encoding different isoforms have been found for this gene.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000100987 –Ensembl, May 2017
  2. ^abcGRCm38: 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. ^ab"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

[edit]


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