RPGRIP1 RPGR interacting protein 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: RPGRIP1provided by VGNC
Official Full Name: RPGR interacting protein 1provided by VGNC
Primary source: VGNC:VGNC:45711
See related: Ensembl:ENSCAFG00845025061
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 15

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	15	NC_051819.1 (18575495..18646528)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	15	NC_006597.4 (18801276..18872057)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	15	NC_049236.1 (18442510..18513618)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	15	NC_049275.1 (18257806..18328787)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	15	NC_049756.1 (18313853..18384799)

Chromosome 15 - NC_051819.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

variability in cone electroretinograms (ERGs) ranging from normal to absent in an extended RPGRIP1 (ins/ins) canine colony, irrespective of the MAP9 genotype.
Title: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.
a MAP9 partial deficit is a particularly attractive candidate to synergise with a partial RPGRIP1 deficit to cause a more serious disease.
Title: Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.
RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]
Title: Leber congenital amaurosis caused by mutations in RPGRIP1.
homozygosity at both RPGRIP1 and the newly mapped second locus is necessary to develop early-onset retinal degeneration (RD), whereas RPGRIP1(-/-) alone leads to late-onset RD or no apparent clinical phenotype
Title: Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.
RPGRIP1 canine model of cone-rod dystrophy involves protein network and photoreceptor cilia.
Title: RPGRIP1 and cone-rod dystrophy in dogs.
The ophthalmic and cone-derived electrodiagnostic findings in dogs homozygous for a mutation in the RPGRIP1 gene previously associated with cone-rod dystrophy 1 are reported.
Title: Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation.
The use of alternative transcription start and termination sites results in substantial heterogeneity of cRPGRIP1 transcripts, many of which are likely to have tissue-specific expression.
Title: Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.
This paper describes substantial variations in phenotype among RPGRIP1-/- dogs as well as progressive retinal atrophy in cases with other genotypes.
Title: Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables thromboxane A2 receptor binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info	PubMed
involved_in retinal rod cell development	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Names: retinitis pigmentosa GTPase regulator interacting protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313773.1 → NP_001300702.1 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Status: VALIDATED

Source sequence(s)

AAEX03009852

UniProtKB/TrEMBL

A0A8I3PQ07, A0A8P0SB42, F1PKQ6, F4YGM1

Related

ENSCAFP00845034849.1, ENSCAFT00845044473.1

Conserved Domains (3) summary

cd00030
Location:707 → 814

C2; C2 domain

pfam11618
Location:525 → 662

C2-C2_1; First C2 domain of RPGR-interacting protein 1

cl12057
Location:197 → 309

Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain