Pcare photoreceptor cilium actin regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcareprovided by MGI
Official Full Name: photoreceptor cilium actin regulatorprovided by MGI
Primary source: MGI:MGI:2385061
See related: Ensembl:ENSMUSG00000044375 AllianceGenome:MGI:2385061
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
Summary: Acts upstream of or within photoreceptor cell outer segment organization and protein localization to photoreceptor outer segment. Located in cone photoreceptor outer segment and photoreceptor inner segment. Is expressed in eye. Used to study retinitis pigmentosa 54. Human ortholog(s) of this gene implicated in retinitis pigmentosa 54. Orthologous to human PCARE (photoreceptor cilium actin regulator). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 17 E1.3; 17 42.67 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (72050919..72059904, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (71743555..71752905, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

our work suggests that PCARE is an actin-associated protein that interacts with WASF3 to regulate the actin-driven expansion of the ciliary membrane at the initiation of new outer segment disk formation.
Title: PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
RNAseq analysis of ocular gene expression in BC(-/-) mice revealed clues to the causes of the progressive retinal degenerations.
Title: Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

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 molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within detection of light stimulus involved in visual perception	ISO Inferred from Sequence Orthology more info	PubMed
involved_in photoreceptor cell outer segment organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to photoreceptor outer segment	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: photoreceptor cilium actin regulator

Names: uncharacterized protein C2orf71 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.

mRNA and Protein(s)

NM_001413661.1 → NP_001400590.1 photoreceptor cilium actin regulator isoform 2

Status: VALIDATED

Source sequence(s)

AC154569
NM_001413662.1 → NP_001400591.1 photoreceptor cilium actin regulator isoform 3

Status: VALIDATED

Source sequence(s)

AC154569
NM_001413663.1 → NP_001400592.1 photoreceptor cilium actin regulator isoform 4

Status: VALIDATED

Source sequence(s)

AC154569
NM_001413664.1 → NP_001400593.1 photoreceptor cilium actin regulator isoform 5

Status: VALIDATED

Source sequence(s)

AC154569
NM_001413665.1 → NP_001400594.1 photoreceptor cilium actin regulator isoform 6

Status: VALIDATED

Source sequence(s)

AC154569
NM_146082.5 → NP_666194.2 photoreceptor cilium actin regulator isoform 1

See identical proteins and their annotated locations for NP_666194.2

Status: VALIDATED

Source sequence(s)

AC154569

Consensus CDS

CCDS28962.1

UniProtKB/Swiss-Prot

Q6PAC4, Q8BXR7, Q8R0C5

Related

ENSMUSP00000051871.8, ENSMUST00000057405.9

Conserved Domains (1) summary

pfam15449
Location:1 → 1255

Retinal; Retinal protein