InnateDB Protein
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IDBP-369564.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VSX1
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Protein Name
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visual system homeobox 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000387720
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InnateDB Gene
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IDBG-61056 (VSX1)
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Protein Structure
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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.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
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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.
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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}.
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Comments |
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Number of Interactions
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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.
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0043565
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sequence-specific DNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
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PFAM |
PF00046
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PRINTS |
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PIRSF |
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SMART |
SM00389
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NZR4
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PhosphoSite |
PhosphoSite-Q9NZR4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
30813
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UniGene |
Hs.274264
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RefSeq |
NP_001243200
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HUGO |
HGNC:12723
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OMIM |
605020
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CCDS |
CCDS58766
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HPRD |
09232
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IMGT |
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EMBL |
AF176797
AF251033
AF251034
AL080312
BC126228
BC136497
DQ854807
DQ854808
DQ854809
DQ854810
DQ854811
DQ854812
GU138372
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GenPept |
AAF37425
AAF99656
AAF99657
AAI26229
AAI36498
ABI23973
ABI23974
ABI23975
ABI23976
ABI23977
ABI23978
ACZ01961
CAI18918
CAX15203
CAX15204
CAX15205
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