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RPGR-interacting protein 1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)
Function:
- essential for RPGR function
- disk morphogenesis
- forms homodimers & elongated homopolymers
- interacts with RPGR
- interacts with NPHP4
Structure:
- belongs to the RPGRIP1 family
- contains 1 C2 domain
Compartment:
- cell projection, cilium (putative)
- situated between axonemal microtubules & plasma membrane
Alternative splicing: named isoforms=6
Expression:
- expressed in retina > testis
- colocalizes with RGPR in the outer segment of rod photoreceptors & cone outer segments
- xpressed in other neurons, amacrine cells
Pathology:
- defects in RPGRIP1 are the cause of
a) Leber congenital amaurosis type 6
b) dominant cone-rod dystrophy type 9
c) heterozygous variants of RPGRIP1 may increase susceptibility to various forms of glaucoma
Related
dominant cone-rod dystrophy type 9 (CORD9)
Leber congenital amaurosis
RPGRIP1 gene mutation
X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)
General
guanine nucleotide exchange factor (GDP/GTP dissociation stimulator, guanine nucleotide-releasing factor/protein, GNEF, GNDS, GDS)
prenyl protein
Properties
SIZE: entity length = 1286 aa
MW = 147 kD
COMPARTMENT: cellular membrane
MOTIF: coiled coil {294-584}
guanine nucleotide exchange domain
NAME: guanine nucleotide exchange domain
C2 domain {801-890}
MOTIF: binding site
FOR-BINDING-OF: phospholipid
Ca+2-binding site
CaaX motif
SITE: C-TERMINUS
QUALITIES: AAX-TRUNCATED
CARBOXYMETHYLATED
EFFECTOR-BOUND: prenyl
BOUND-VIA: cysteine residue
Database Correlations
OMIM correlations
MORBIDMAP 605446
UniProt Q96KN7
Pfam PF11618
Entrez Gene 57096
Kegg hsa:57096
References
- UniProt :accession Q96KN7
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RPGRIP1