Rpgrip1 - retinitis pigmentosa GTPase regulator interacting protein 1 Gene

Also Known as nmf247; 0610005A07Rik; 4930401L23Rik; 4930505G06Rik; A930002K18Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 77945

Summary

Acts upstream of or within eye development; neural precursor cell proliferation; and visual perception. Located in axoneme and photoreceptor distal connecting cilium. Is expressed in brain; cerebral cortex; photoreceptor layer outer segment; retina outer nuclear layer; and telencephalon ventricular layer. Used to study Leber congenital amaurosis 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]

Rpgrip1 Products (2)

mRNA Protein Name
NM_001168515.1 NP_001161987.1 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2
NM_023879.3 NP_076368.1 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11104772 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within eye photoreceptor cell development IMP
IMP: Inferred from mutant phenotype
12651948 MGI
acts upstream of or within neural precursor cell proliferation IMP
IMP: Inferred from mutant phenotype
18297065 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
21052544 MGI
acts upstream of or within visual perception IMP
IMP: Inferred from mutant phenotype
12651948 MGI
Cellular Component GO Annotation Evidence References Source
located in axoneme IDA
IDA: Inferred from direct assay
11104772 MGI
located in cilium IDA
IDA: Inferred from direct assay
12651948 MGI
located in neuron projection IDA
IDA: Inferred from direct assay
20592197 MGI
located in non-motile cilium IDA
IDA: Inferred from direct assay
20592197 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
25398945 MGI
located in photoreceptor distal connecting cilium IDA
IDA: Inferred from direct assay
29899041 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

  • RPGR-interacting protein 1

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12155 RPGRIP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12156 RPGRIP1L Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Rpgrip1 NCBI NCBI:57096