Rp9 retinitis pigmentosa 9 (human) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rp9provided by MGI
Official Full Name: retinitis pigmentosa 9 (human)provided by MGI
Primary source: MGI:MGI:2157166
See related: Ensembl:ENSMUSG00000032239 AllianceGenome:MGI:2157166
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rp9h; PAP-1
Summary: Predicted to enable metal ion binding activity. Predicted to be involved in cognition. Part of signal recognition particle receptor complex. Is expressed in several structures, including alimentary system; eye; integumental system; nervous system; and reproductive system. Human ortholog(s) of this gene implicated in retinitis pigmentosa 9. Orthologous to human RP9 (RP9 pre-mRNA splicing factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in colon adult (RPKM 56.5), duodenum adult (RPKM 55.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A3; 9 9.16 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (22359607..22379652, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (22448311..22468356, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rp9 gene knockout & point mutation knock in (Rp9, c.A386T, P.H129L) analogous to reported one in the retinitis pigmentosa patients (RP9, c.A410T, P.H137L) were studied. Proliferation and migration were significantly decreased in the mutated cells. Gene expression profiling by RNA-Seq demonstrated that retinitis pigmentosa associated genes, Fscn2 and Bbs2, were down-regulated in the mutated cells.
Title: Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cognition	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of signal recognition particle receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinitis pigmentosa 9 protein homolog

Names: Pim-1 associated protein; pim-1-associated protein; retinitis pigmentosa 9 homolog

NCBI Reference Sequences (RefSeq)

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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.