Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
VSX1 visual system homeobox 1	PPD , KTCN , PPCD , RINX , KTCN1 , PPCD1 , CAASDS	Homo sapiens	8	protein-coding			605020

Summary

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0003700	enables DNA-binding transcription factor activity	NAS

Component (3)

Go ID	Value	Evidence
0005575	is_active_in cellular_component	ND
0000785	located_in chromatin	ISA
0005634	is_active_in nucleus	IBA

Process (6)

Go ID	Value	Evidence
0048666	involved_in neuron development	IBA
0042551	involved_in neuron maturation	IEA
0006355	involved_in regulation of DNA-templated transcription	IBA
0006357	involved_in regulation of transcription by RNA polymerase II	IEA
0060040	involved_in retinal bipolar neuron differentiation	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - VSX1 (5 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_2GHYRW	Echinops telfairi		Gene deletion	Full	No	10.1093/icb/icy004
GL_44C08M	Chrysochloris asiatica	Afrosoricida	Gene deletion	Full	No	10.1093/icb/icy004
GL_NTD6DH	Rhinolophus sinicus	Chiroptera	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_RGSDGS	Carlito syrichta	Primates	Gene deletion	Full	No	10.1093/icb/icy004
GL_UFXV6J	Rousettus aegyptiacus	Chiroptera	Gene deletion	Full	No	10.1093/icb/icy004