RPGRIP1L Gene Summary [Human]
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | RPGRIP1L |
| Official Name | RPGRIP1 like [Source:HGNC Symbol;Acc:HGNC:29168] |
| Ensembl ID | ENSG00000103494 |
| Bio databases IDs | |
| Aliases | RPGRIP1 like, fantom homolog, Meckel syndrome, type 5, protein phosphatase 1, regulatory subunit 134 |
| Synonyms | 1700047E16Rik, 4931437C01, COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134, RGD1311099, RPGRIP1 like |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RPGRIP1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha helical coiled-coil rod protein (HCR)
- Ciliary protein causing Leber congenital amaurosis disease
- Retinitis pigmentosa G-protein regulator interacting C-terminal
- Trichohyalin-plectin-homology domain
- G-protein-coupled receptor binding
- protein binding
- First C2 domain of RPGR-interacting protein 1
- Protein kinase C conserved region 2 (CalB)
- Centrosomal protein of 63 kDa
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- fibrosis
- Joubert syndrome type 1
- hereditary disorder
- COACH syndrome 3
- Joubert syndrome type 7
- left pulmonary isomerism
- situs ambiguus
- RPGRIP1L-related disorder
- Joubert syndrome related disorder
regulated by
role in cell
- generation
- assembly
- expansion
- ciliary gating in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cilia
- Plasma Membrane
- basal bodies
- centrosome
- axonemes
- intercellular junctions
- cytosol
- connecting cilia
- ciliary rootlet
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RPGRIP1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cochlea development
- cerebellum development
- establishment or maintenance of cell polarity
- nose development
- olfactory bulb development
- determination of left/right symmetry
- negative regulation of G-protein coupled receptor protein signaling pathway
- pericardium development
- neural tube patterning
- corpus callosum development
- retinal rod cell development
- regulation of smoothened signaling pathway
- lateral ventricle development
- kidney development
- in utero embryonic development
- liver development
- establishment of planar polarity
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- ciliary rootlet
- photoreceptor connecting cilium
- cilium basal body
- axoneme
- plasma membrane
- nucleoplasm
- centrosome
- axonemal microtubule
- tight junction
- cell-cell junction
- cytoplasm
- cilium
- cytosol
- ciliary transition zone
Molecular Function
What the gene product does at the molecular level
- protein binding
- thromboxane A2 receptor binding