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visual system homeobox 1; homeodomain protein RINX; retinal inner nuclear layer homeobox protein; transcription factor VSX1 (VSX1, RINX)

Function: - binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster - may regulate activity of the LCR & the cone opsin genes at earlier stages of development Structure: - belongs to the paired homeobox family - contains 1 CVC domain - contains 1 homeobox DNA-binding domain Compartment: nucleus (putative) Alternative splicing: - named isoforms=8 - additional isoforms seem to exist Expression: - in the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head &, most strongly, in retina - not expressed in sclera & cornea. according to - expressed in adult retina but not in lens & cornea [3] - within adult retina, found exclusively in the inner nuclear layer - isoform 1, isoform 2, isoform 3 & isoform 4 a) expressed in adult retina b) not expressed in brain, heart, kidney, liver, lung, pancreas, placenta & skeletal muscle - not expressed in thymus & spleen - expressed in embryonic craniofacial tissue - expressed in fetal (week 14) retina - strongly expressed in neonatal retina (day 0) - weakly expressed in neonatal lens (day 0), choroid (day 0) & cornea (day 0, 4; month 9) Pathology: - defects in VSX1 are a cause of a) posterior polymorphous corneal dystrophy type 1 b) keratoconus

Related

posterior polymorphous corneal dystrophy

General

homeobox protein transcription factor (TF)

Properties

SIZE: entity length = 365 aa MW = 38 kD COMPARTMENT: cell nucleus MOTIF: Octapeptide {31-38} proline-rich region SITE: 44-127 MOTIF: proline residue (SEVERAL) acidic region {142-152} MOTIF: acidic residue (SEVERAL) nuclear translocation signal {161-166} homeodomain SITE: 164-223 CVC {224-277}

Database Correlations

OMIM correlations MORBIDMAP 605020 UniProt Q9NZR4 Pfam PF00046 Entrez Gene 30813 Kegg hsa:30813

References

  1. UniProt :accession Q9NZR4
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/VSX1
  3. Heon E et al VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002 May 1;11(9):1029-36. PMID: 11978762