Gene

rpgrip1

ID

ZDB-GENE-091204-394

Name

RPGR interacting protein 1

Symbol

rpgrip1 Nomenclature History

Previous Names

si:dkey-86e23.2
si:dkey-86e23.3 (1)

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Description

Involved in photoreceptor cell outer segment organization and retinal rod cell development. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 21 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With rpgrip1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
cone-rod dystrophy 13	Alliance	Cone-rod dystrophy 13	608194
Leber congenital amaurosis 6	Alliance	Leber congenital amaurosis 6	613826

Associated With rpgrip1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
retinitis pigmentosa	rpgrip1^fh314/fh314	standard conditions	Alhasani et al., 2020
retinitis pigmentosa	rpgrip1^fh314/fh314	standard conditions	Li et al., 2021

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	IPR031139	RPGRIP1 family
Homologous_superfamily	IPR035892	C2 domain superfamily

Domain Details Per Protein

Protein	Length	C2 domain	C2 domain superfamily	RPGR-interacting protein 1, first C2 domain	RPGRIP1, C-terminal	RPGRIP1 family
UniProtKB:A0A8M6YWC7 InterPro	1339
UniProtKB:A0A8M3B6J7 InterPro	1338
UniProtKB:A0A8M9PUA9 InterPro	1341

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	rpgrip1-201 (1) Ensembl	Ensembl	4,653 nt	Select Tool
mRNA	rpgrip1-202 (1) Ensembl	Ensembl	3,318 nt	Select Tool ZFIN BLAST
mRNA	rpgrip1-203 (1) Ensembl	Ensembl	3,399 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations