VSX1 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. Dispensable in early retinal development. Belongs to the paired homeobox family. 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, weakly in neonatal lens, choroid and cornea (day 1, 4; month 9). 8 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; DNA-binding
Chromosomal Location of human Ortholog: 20p11.21
Cellular Component: 
Molecular Function:  DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; sequence-specific DNA binding
Biological Process:  neuron maturation; regulation of transcription by RNA polymerase II; response to stimulus; retinal bipolar neuron differentiation; visual perception
Disease: Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Keratoconus 1
Reference #:  Q9NZR4 (UniProtKB)
Alt. Names/Synonyms: CAASDS; Homeodomain protein RINX; KTCN; KTCN1; PPCD; PPCD1; PPD; Retinal inner nuclear layer homeobox protein; RINX; Transcription factor VSX1; Visual system homeobox 1; visual system homeobox 1 homolog, CHX10-like; VSX1
Gene Symbols: VSX1
Molecular weight: 38,431 Da
Basal Isoelectric point: 8.99  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene