Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
ROM1 retinal outer segment membrane protein 1	ROM , RP7 , ROSP1 , TSPAN23	Homo sapiens	3	protein-coding	TSPAN32 , CD63 , TSPAN6 , TSPAN7 , CD53 , CD37 , TSPAN19 , CD82 , TSPAN9 , TSPAN4 , TSPAN12 , CD9 , TSPAN2 , CD81 , TSPAN18 , TSPAN8 , TSPAN16 , TSPAN1 , TSPAN11 , UPK1A , TSPAN3 , CD151 , TSPAN15 , TSPAN14 , TSPAN17 , TSPAN10 , TSPAN5 , PRPH2 , TSPAN33 , TSPAN13 , TSPAN31		180721

Summary

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005515	enables protein binding	IPI

Component (2)

Go ID	Value	Evidence
0042622	located_in photoreceptor outer segment membrane	IEA
0005886	is_active_in plasma membrane	IBA

Process (10)

Go ID	Value	Evidence
0060219	involved_in camera-type eye photoreceptor cell differentiation	IEA
0007155	involved_in cell adhesion	IEA
0050908	involved_in detection of light stimulus involved in visual perception	IEA
0035845	involved_in photoreceptor cell outer segment organization	IEA
0051291	involved_in protein heterooligomerization	IEA
0051260	involved_in protein homooligomerization	IEA
1903546	involved_in protein localization to photoreceptor outer segment	IEA
0010468	involved_in regulation of gene expression	IEA
0061298	involved_in retina vasculature development in camera-type eye	IEA
0007601	involved_in visual perception	TAS

Gene Loss events - ROM1 (3 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_FGCXI2	Condylura cristata	Eulipotyphla	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_FGPYAW	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_FP4ONM	Nannospalax galili	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004