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
  • Leber congenital amaurosis type 6
  • dominant cone-rod dystrophy type 9
  • heterozygous variants of RPGRIP1 may increase susceptibility to various forms of glaucoma

More general terms

• guanine nucleotide exchange factor
• prenyl protein

Additional terms

• dominant cone-rod dystrophy type 9 (CORD9)
• Leber congenital amaurosis
• X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57096
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57096
• OMIM: https://mirror.omim.org/entry/605446
• OMIM: https://mirror.omim.org/entry/608194
• OMIM: https://mirror.omim.org/entry/613826
• UniProt: http://www.uniprot.org/uniprot/Q96KN7.html