RPGRIP1 May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. Belongs to the RPGRIP1 family. 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. 6 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 14q11.2
Cellular Component:  axoneme; photoreceptor connecting cilium
Molecular Function:  protein binding
Biological Process:  eye photoreceptor cell development; neural precursor cell proliferation; response to stimulus; retina development in camera-type eye; visual perception
Disease: Cone-rod Dystrophy 13; Leber Congenital Amaurosis 6
Reference #:  Q96KN7 (UniProtKB)
Alt. Names/Synonyms: CORD13; DKFZp686P0897; LCA6; retinitis pigmentosa GTPase regulator interacting protein 1; RGI1; RGRIP; RPGR interacting protein 1; RPGR-interacting protein 1; RPGR1; RPGRIP; RPGRIP1; RPGRIP1d; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Gene Symbols: RPGRIP1
Molecular weight: 146,682 Da
Basal Isoelectric point: 5.47  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB