Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
ADGRV1 adhesion G protein-coupled receptor V1	FEB4 , GPR98 , MASS1 , USH2B , USH2C , VLGR1 , VLGR1b	Homo sapiens	91	protein-coding			602851

Summary

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004930	enables G protein-coupled receptor activity	IBA

Component (14)

Go ID	Value	Evidence
1990696	part_of USH2 complex	ISS
0009986	located_in cell surface	IDA
0005737	is_active_in cytoplasm	IBA
0005737	located_in cytoplasm	IDA
0070062	located_in extracellular exosome	HDA
0016020	located_in membrane	NAS
1990075	located_in periciliary membrane compartment	ISS
0001917	located_in photoreceptor inner segment	IEA
0005886	located_in plasma membrane	ISS
0043235	part_of receptor complex	IDA
0002141	located_in stereocilia ankle link	ISS
0002142	part_of stereocilia ankle link complex	ISS
0032420	is_active_in stereocilium	IBA
0060171	located_in stereocilium membrane	IEA

Process (24)

Go ID	Value	Evidence
0007186	involved_in G protein-coupled receptor signaling pathway	ISS
0007166	involved_in cell surface receptor signaling pathway	IEA
0098609	involved_in cell-cell adhesion	NAS
0071277	involved_in cellular response to calcium ion	IBA
0071277	acts_upstream_of_or_within cellular response to calcium ion	ISS
0050910	acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	ISS
0045184	acts_upstream_of_or_within establishment of protein localization	ISS
0048839	acts_upstream_of_or_within inner ear development	ISS
0060113	involved_in inner ear receptor cell differentiation	NAS
0060122	acts_upstream_of_or_within inner ear receptor cell stereocilium organization	ISS
0048496	involved_in maintenance of animal organ identity	IMP
0007194	involved_in negative regulation of adenylate cyclase activity	ISS
0007399	involved_in nervous system development	NAS
0050877	involved_in nervous system process	IMP
0045494	involved_in photoreceptor cell maintenance	IMP
0030501	involved_in positive regulation of bone mineralization	ISS
0010739	acts_upstream_of_or_within positive regulation of protein kinase A signaling	ISS
0031647	involved_in regulation of protein stability	ISS
0097264	involved_in self proteolysis	ISS
0050953	involved_in sensory perception of light stimulus	IMP
0007605	involved_in sensory perception of sound	IBA
0007605	involved_in sensory perception of sound	IMP
0007601	involved_in visual perception	IBA
0007601	acts_upstream_of_or_within visual perception	ISS

Gene Loss events - ADGRV1 (3 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_01HVZ8	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_MCHFZG	Dasypus novemcinctus	Cingulata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_V9FVG0	Heterocephalus glaber	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004