RPGRIP1
Sign in to saveAlso known as CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
In the Vinony graph
Vinony's link graph records 62 inbound references to RPGRIP1, and connects out to PubMed, human chromosome 14 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 14.
Vinony links it to 5 Wikipedia language editions.
Gene data
RPGRIP1- Name
- RPGR interacting protein 1
- Type
- protein-coding
- Position
- 21,280,083–21,351,301 (+)
- Aliases
- CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
- Ensembl
- ENSG00000092200
- RefSeq RNA
- NM_001377523.1, NM_001377948.1, NM_001377949.1, NM_001377950.1, NM_001377951.1
- RefSeq protein
- NP_001364452.1, NP_001364877.1, NP_001364878.1, NP_001364879.1, NP_001364880.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
RPGR interacting protein 1
- Symbol
- RPGRIP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:21,280,083-21,351,301
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 10679
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57096
- genomic end
- 21819460
- genomic start
- 21280083
- chromosome
- human chromosome 14
- cytogenetic location
- 14q11.2
- expressed in
- Achilles tendon
- Commons category
- RPGRIP1
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- References
- Further reading
- External links
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
== Interactions ==
Excerpted from Wikipedia’s “RPGRIP1” article, available under the CC BY-SA 4.0 licence.