RPGRIP1
Gene Information
- Official Symbol: RPGRIP1
- Official Name: RPGR interacting protein 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 57096
- UniProt: Q96KN7
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes 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. [provided by RefSeq, Oct 2008].
- UniProt Summary: 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. {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 8025
- Expression level (log2 read counts): 0.94
RPGRIP1 Expression in NALM6 Cells: 0.94
