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FLASH GENE

Symbol

RPGRIP1

contributors: mct - updated : 26-11-2010

HGNC name	retinitis pigmentosa GTPase regulator interacting protein 1
HGNC id	13436

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	63.33 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see RPG

regionally located

at the D14S932 locus

RNA

TRANSCRIPTS	type	messenger

text	these isoforms have been described before the complete structure of the gene was known

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 5 - - 3100 isoform 5 103 902 - 2005 15914599 also called RPGRIP1D variant 4 - splicing 2000 isoform 4 67.3 586 - 2005 15914599 also called RPGRIP1C excluding exons 5-7 (14-16) variant 2 - - 2393 isoform 2 76.4 669 retina 2005 15914599 also called RPGRIP1A variant 3 - - 2160 isoform 3 - 645 retina 2005 15914599 also called RPGRIP1B arises from the extension of exon 13, leading to the premature truncation and deletion of C2 and RID domains dispersed as punctate foci throughout the perikarya, where it colocalizes with a subpopulation of lysosomes NM_020366 24 splicing 3950 NP_065099 146.7 1286 - 2001 11528500 also called RPGRIP1E

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Homo sapiens Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a C2 domains at the N-terminus
	two coiled-coil domains in the central part (SMC domain), (coiled-coil domain is normally found in proteins involved in vesicular trafficking)
	a RPGR interacting globular domain (RID) at the C terminus
	a C2 domain specifically binded to nephrocystin-4, encoded by NPHP4

HOMOLOGY

intraspecies

homolog to KIAA1005 in the brain

Homologene

FAMILY

RPGRIP1 family

CATEGORY

regulatory , transcription factor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	outer segment, and cytoskeleton of outer segment and nucleus (isoform RPGRIP1E)
	localized in the photoreceptor-connecting cilium

basic FUNCTION	playing a role in anchor RPGR within the cilium
	required for normal disk morphogenesis
	essential for rod outer segments formation
	havong essential function for photoreceptor maintenance
	may facilitate the orchestration of multiple ciliary protein complexes
	RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a NEK4 signaling network which regulates cilium stability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport

text	vesicular trafficking

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

structural component of the ciliary axoneme, acting as a scaffold for other proteins necessary for the transport of molecules through the connecting cilia from the inner segments

INTERACTION

DNA

RNA

small molecule

protein	RPGR
	RANBP2 in amacrine neurons
	nephrocystin-4

cell & other

REGULATION

Other

regulated by the Rid domain and by its partner RPGR

ASSOCIATED DISORDERS

corresponding disease(s)

LCA6 , DEL14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       involvement of disrupted interaction with NPHP4 in the retinal dystrophy of both SLSN4 and LCA6 patients

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of leber congenital amaurosis