Contents

RPGRIP1

Protein-coding gene in the species Homo sapiens

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

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)[1] Band 14q11.2 Start 21,280,083 bp[1] End 21,351,301 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 C2 Start 52,110,704 bp[2] End 52,163,546 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 57096 77945 Ensembl ENSG00000092200 ENSMUSG00000057132 UniProt Q96KN7 Q9EPQ2 RefSeq (mRNA) NM_020366 NM_001377523 NM_001377948 NM_001377949 NM_001377950 NM_001377951 NM_001168515 NM_023879 RefSeq (protein) NP_065099 NP_001364452 NP_001364877 NP_001364878 NP_001364879 NP_001364880 NP_001161987 NP_076368 Location (UCSC) Chr 14: 21.28 – 21.35 Mb Chr 14: 52.11 – 52.16 Mb PubMed search [3] [4]
Wikidata
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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.^[5][6] 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^[7] and in the eye disease glaucoma.^[8]

RPGRIP1 has been shown to interact with Retinitis pigmentosa GTPase regulator.^[9] RPGRIP1 interacts with RPGR via its RPGR-interacting domain (RID), which folds into a C2 domain architecture and interacts with RPGR at three different locations: A β strand of the RID interacting with the large loop of RPGR, at a hydrophobic interaction site, and via the N-terminal region of the RID.^[10]

• PDBe-KB provides an overview of all the structure information available in the PDB for Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)

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