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FLASH GENE

Symbol

RPGRIP1L

contributors: mct/npt - updated : 12-01-2017

HGNC name	RPGRIP1-like
HGNC id	29168

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COACH2 COACH syndrome 2 JBTS7 Joubert syndrome 7 MKS5 Meckel syndrome, type 5 NPHP8 nephronophtisis 8
Location	16q12.2      Physical location : 53.633.822 - 53.737.771
Synonym name	related to C elegans hypothetical protein, 130.5kDa,C09G5.8
	protein fantom
	RPGR-interacting protein 1-like protein
	nephrocystin-8
	protein phosphatase 1, regulatory subunit 134
Synonym symbol(s)	CORS3, KIAA1005, FTM, TPIP, FTM, JBTS7, KIAA1005, MKS5, NPHP8, PPP1R134

DNA

TYPE	functioning gene
STRUCTURE	104.70 kb     27 Exon(s)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127897 25 - 5959 NP_001121369 - 1235 - 2007 17960139 NM_015272 27 - 6199 NP_056087 - 1315 - 2007 17960139 NM_001308334 26 - 6786 NP_001295263 - 1269 - 2007 17960139 NM_001328422 - - 2529 NP_001315351 - 125 - 2007 17960139 NM_001328423 - - 893 NP_001315352 - 78 - 2007 17960139 NM_001330538 - - 6826 NP_001317467 - 1281 - 2007 17960139

EXPRESSION

Type

widely

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 Cardiovascular heart         Homo sapiens Lymphoid/Immune thymus       predominantly Nervous brain basal nuclei caudate nucleus       brain diencephalon hypothalamus     Homo sapiens Reproductive male system testis     highly Homo sapiens Urinary kidney       lowly Homo sapiens Visual eye retina     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal C2 domain (residues 615-712) shows less homology to the C2 domain of PKC than does the C-terminal C2 motif five coiled-coil domains
	two C2, protein kinase C (PKC) conserved motifs
	multiple coiled-coil domains (extensive coiled-coil domains may regulate the assembly of functional nephrocystin complexes through intra- and intermolecular coupling of their coiled-coil domains)
	C-terminal RID domain with homology to the RPGR-interacting domain of RPGRIP1

HOMOLOGY

interspecies

homolog to C.elegans hypothetical protein

intraspecies

homolog to RPGRIP1

Homologene

FAMILY

RPGRIP1 family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	localization to the ciliary axoneme, basal bodies and centrosome or cytoplasm suggests a shuttling between these different subcellular compartments

basic FUNCTION	may be important role in controlling centriole positioning during primary cilium formation
	TBXA2R interacting protein that regulates TBXA2R-mediated signal transduction negatively
	might participate in what is now appreciated as an important pathway in human energy homeostasis by virtue of the obesity phenotype in the Bardet-Biedl and Alström syndromes
	FTO and/or RPGRIP1L may participate in the leptin signaling pathway
	FTO and RPGRIP1L participate in the control of food intake by modulating leptin sensitivity in the arcuate hypothalamic
	having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
	RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a NEK4 signaling network which regulates cilium stability
	is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway
	regulates proteasomal activity specifically at the basal body

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with NPHP4
	interacting protein of the TBXA2R alpha and TBXA2R beta C-terminal region
	FTO and RPGRIP1L (a ciliary gene located in close proximity to the transcriptional start site of FTO) are regulated by isoforms P200 and P110 of the transcription factor, CUX1
	dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
	RPGRIP1L controls likely ciliary signaling by regulating the activity of the ciliary proteasome via PSMD2
	MYO5A interacts with RPGRIP1L, a cilia-centrosomal protein that controls ciliary signaling and positioning, and MYO5A and RPGRIP1L can interact near the cilium base in ciliated RPE cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

JBTS7 , MKS5 , NPHP8 , COACH2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes an impairment of protein degradation and protein processing

Susceptibility

to development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes to vascular dementia (VaD)

Variant & Polymorphism other	common variant, A229T significantly compromises the interaction with RPGRIP1 and cause retinal degeneration
	association between RPGRIP1L gene and susceptibility of VaD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects