RPGRIP1L

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RPGRIP1-like
Identifiers
Symbol	RPGRIP1L
Alt. symbols	NPHP8, KIAA1005, CORS3, JBTS7, MKS5
Entrez	23322
HUGO	29168
OMIM	610937
RefSeq	NM_015272
UniProt	Q68CZ1
Other data
Locus	Chr. 16 q12.2

RPGRIP1L is a human gene.^[1]

Function

The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells. RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1.^[2]^[3]

Clinical significance

Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction.^[2] Mutations in this gene are also associated with nephronophthisis.^[4]

References

↑ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA research : an international journal for rapid publication of reports on genes and genomes. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032. Unknown parameter |month= ignored (help)
↑ ^2.0 ^2.1 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S (2007). "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome". Nature genetics. 39 (7): 875–81. doi:10.1038/ng2039. PMID 17558409. Unknown parameter |month= ignored (help)
↑ Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature genetics. 39 (7): 882–8. doi:10.1038/ng2069. PMID 17558407. Unknown parameter |month= ignored (help)
↑ Devuyst O, Arnould VJ (2008). "Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies". Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 23 (5): 1500–3. doi:10.1093/ndt/gfn033. PMID 18281315. Unknown parameter |month= ignored (help)

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[pmid10231032-1] Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA research : an international journal for rapid publication of reports on genes and genomes. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032. Unknown parameter |month= ignored (help)

[pmid17558409-2] 2.0 ^2.1 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S (2007). "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome". Nature genetics. 39 (7): 875–81. doi:10.1038/ng2039. PMID 17558409. Unknown parameter |month= ignored (help)

[pmid17558407-3] Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature genetics. 39 (7): 882–8. doi:10.1038/ng2069. PMID 17558407. Unknown parameter |month= ignored (help)

[pmid18281315-4] Devuyst O, Arnould VJ (2008). "Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies". Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 23 (5): 1500–3. doi:10.1093/ndt/gfn033. PMID 18281315. Unknown parameter |month= ignored (help)

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[2]

[3]

[4]

RPGRIP1L

Function

Clinical significance

References

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