InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VSX1

Summary

InnateDB Protein

IDBP-369560.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VSX1

Protein Name

visual system homeobox 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000401690

InnateDB Gene

IDBG-61056 (VSX1)

Protein Structure

UniProt Annotation

Function

Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Corneal dystrophy, posterior polymorphous, 1 (PPCD1) [MIM:122000]: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non- progressive, even within the same family. {ECO:0000269PubMed:11978762}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratoconus 1 (KTCN1) [MIM:148300]: Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. {ECO:0000269PubMed:11978762, ECO:0000269PubMed:15623752, ECO:0000269PubMed:19956409}. Note=The disease is caused by mutations affecting the gene represented in this entry.Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195]: A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. {ECO:0000269PubMed:15051220}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed 11978762, expressed in adult retina but not in lens and cornea. Within adult retina, found exclusively in the inner nuclear layer. Isoform 1, isoform 2, isoform 3 and isoform 4 expressed in adult retina, but not in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in thymus and spleen. Expressed in embryonic craniofacial tissue. Expressed in fetal (week 14) retina. Strongly expressed in neonatal retina (day 0), weakly in neonatal lens (day 0), choroid (day 0) and cornea (day 0, 4; month 9). {ECO:0000269PubMed:10673340, ECO:0000269PubMed:10903837, ECO:0000269PubMed:11978762, ECO:0000269PubMed:18253095}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding