Gene

rpgrip1l

ID
ZDB-GENE-081104-81
Name
RPGRIP1 like
Symbol
rpgrip1l Nomenclature History
Previous Names
  • si:ch1073-301i20.1 (1)
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Involved in embryonic pattern specification. Predicted to localize to photoreceptor connecting cilium. Human ortholog(s) of this gene implicated in several diseases, including COACH syndrome; Joubert syndrome 7; Meckel syndrome 5; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Khanna et al., 2009
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rpgrip1l Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 7 Alliance Joubert syndrome 7 611560
Meckel syndrome 5 Alliance Meckel syndrome 5 611561
?COACH syndrome 3 619113
Associated With rpgrip1l Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR021656 RPGR-interacting protein 1, first C2 domain
Domain IPR041091 RPGRIP1, C-terminal
Family IPR031136 Protein fantom (RPGRIP1L)
Family IPR031139 RPGRIP1 family
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily Protein fantom (RPGRIP1L) RPGR-interacting protein 1, first C2 domain RPGRIP1, C-terminal RPGRIP1 family
UniProtKB:E7F4E7 1256
UniProtKB:A1L275 931
UniProtKB:G3K006 1258
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations