Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
RPGRIP1 RPGR interacting protein 1	LCA6 , RGI1 , RGRIP , CORD13 , RPGRIP , RPGRIP1d	Homo sapiens	26	protein-coding			605446

Summary

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005515	enables protein binding	IPI

Component (5)

Go ID	Value	Evidence
0005930	located_in axoneme	IEA
0035253	located_in ciliary rootlet	IEA
0032391	is_active_in photoreceptor connecting cilium	IBA
0032391	located_in photoreceptor connecting cilium	ISS
0120206	located_in photoreceptor distal connecting cilium	IEA

Process (4)

Go ID	Value	Evidence
0061351	involved_in neural precursor cell proliferation	IEA
1905515	involved_in non-motile cilium assembly	IBA
0046548	involved_in retinal rod cell development	IBA
0007601	involved_in visual perception	IEA

Gene Loss events - RPGRIP1 (4 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_3PODTR	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_EJC4XF	Manis javanica	Pholidota	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_SYSSZY	Orycteropus afer	Tubulidentata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_ZPWMMY	Octodon degus	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004