RPGRIP1 (RPGR interacting protein 1)

2016-10-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
CORD13,LCA6,RGI1,RGRIP,RPGRIP,RPGRIP1d

Other Information

Locus ID:

NCBI: 57096
MIM: 605446
HGNC: 13436
Ensembl: ENSG00000092200

Variants:

dbSNP: 57096
ClinVar: 57096
TCGA: ENSG00000092200
COSMIC: RPGRIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092200ENST00000382933Q96KN7
ENSG00000092200ENST00000400017Q96KN7
ENSG00000092200ENST00000554303H0YIY1
ENSG00000092200ENST00000555322H0YJ18
ENSG00000092200ENST00000555489H0YJ99
ENSG00000092200ENST00000555587G3V3I7
ENSG00000092200ENST00000556336G3V236
ENSG00000092200ENST00000557351G3V577
ENSG00000092200ENST00000557606H0YJK6
ENSG00000092200ENST00000557771G3V3F7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163399052005Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.59
157720892005RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.44
121401922002Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.35
162722592005Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.33
216852042011The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.31
253989452015Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.25
173068752007Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.19
200902032009RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.16
158000112005Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.11
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11

Citation

Dessen P

RPGRIP1 (RPGR interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56179/rpgrip1