RPGRIP1

RPGRIP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4QAM
Identifiers
Aliases	RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
External IDs	OMIM: 605446; MGI: 1932134; HomoloGene: 10679; GeneCards: RPGRIP1; OMA:RPGRIP1 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	21,351,301 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	52,163,546 bp
RNA expression pattern
	Top expressed in
	left testis; ; sperm; ; right testis; ; gonad; ; testicle; ; monocyte; ; granulocyte; ; blood; ; right lobe of liver; ; Achilles tendon;
	Top expressed in
	neural layer of retina; ; maxillary prominence; ; mandibular prominence; ; human fetus; ; somite; ; epithelium of lens; ; dermis; ; iris; ; endothelial cell of lymphatic vessel; ; epithelium of stomach;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	axoneme; cell projection; cilium; photoreceptor connecting cilium; non-motile cilium;
Biological process	retina development in camera-type eye; response to stimulus; visual perception; neural precursor cell proliferation; eye photoreceptor cell development;
	Sources:Amigo / QuickGO
Orthologs
	57096
	77945
	ENSG00000092200
	ENSMUSG00000057132
	Q96KN7
	Q9EPQ2
NM_020366; NM_001377523; NM_001377948; NM_001377949; NM_001377950;
	NM_001377951
	NM_001168515; NM_023879
NP_065099; NP_001364452; NP_001364877; NP_001364878; NP_001364879;
	NP_001364880
	NP_001161987; NP_076368
	Wikidata
View/Edit Human	View/Edit Mouse

Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

	Crystal structure of the RPGR-interacting domain (RID) of RPGRIP1, PDB code 4qam. Alpha helices are in red, beta strands in gold.
Identifiers
Symbol	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Pfam	PF00168
InterPro	IPR031134
CATH	4qam
SCOP2	4qam / SCOPe / SUPFAM
Pfam
Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.