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Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1)

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CORD9; LCA6; RGI1; RGRIP; RPGRIP; RPGRIP1d; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1)
CCC F633
HGNC 13436
MGI 1932134
PubMed 22825473
RGD 1310807
UniProt Q96KN7
Wiki RPGRIP1
Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 is a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.Essential for RPGR function and is also required for normal disk morphogenesis. Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6);Defects in RPGRIP1 are the cause of cone-rod dystrophy type 9 (CORD9).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF633Hu01 Recombinant Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAF633Hu01 Polyclonal Antibody to Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) WB; IHC; ICC; IP.
Assay Kits SEF633Hu ELISA Kit for Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF633Mu01 Recombinant Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAF633Mu01 Polyclonal Antibody to Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) ELISA Kit Customized Service Offer
  1. "The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors."Hum. Mol. Genet. 9:2095-2105(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of a novel protein interacting with RPGR."Hum. Mol. Genet. 9:2085-2093(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis."Eur. J. Hum. Genet. 9:561-571(2001) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species."Hum. Mol. Genet. 11:1899-1907(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma."Eur. J. Hum. Genet. 19:445-451(2011) [PubMed] [Europe PMC] [Abstract]
  9. "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."Hum. Mol. Genet. 20:3592-3605(2011) [PubMed] [Europe PMC] [Abstract]
  10. "Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina." Hum. Mol. Genet. 24:1584-1601(2015) [PubMed] [Europe PMC] [Abstract]
  11. "C2 domains as protein-protein interaction modules in the ciliary transition zone."Cell Rep. 8:1-9(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy."J. Med. Genet. 40:616-619(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular characterization of Leber congenital amaurosis in Koreans."Mol. Vis. 14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]