Prcd photoreceptor disc component [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prcdprovided by MGI
Official Full Name: photoreceptor disc componentprovided by MGI
Primary source: MGI:MGI:3649529
See related: Ensembl:ENSMUSG00000075410 AllianceGenome:MGI:3649529
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: Gm11744
Summary: Enables opsin binding activity. Located in photoreceptor outer segment membrane. Is expressed in photoreceptor layer outer segment and retina. Human ortholog(s) of this gene implicated in retinitis pigmentosa 36. Orthologous to human PRCD (photoreceptor disc component). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 6.5), adrenal adult (RPKM 5.2) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 81.46 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (116544603..116559224)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (116653889..116668389)

Chromosome 11 - NC_000077.7 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?

TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Title: TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes.
Title: Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes.
This study has important implications for understanding the function of PRCD in the retina, as well as for future development of treatment modalities for PRCD deficiency in humans.
Title: PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
Study in Prcd knockout mice found that Prcd functions at the site of photoreceptor disc morphogenesis where it is required to keep newly forming discs flat as they protrude from the plasma membrane. Without Prcd, the newly forming discs bulge and release extracellular vesicles, which accumulate in the extracellular space and ultimately lead to retinal pathology.
Title: PRCD is essential for high-fidelity photoreceptor disc formation.
Disrupting PRCD palmitoylation eliminating the modified cysteine dramatically affects the stability of PRCD.
Title: Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization.
demonstrated this interaction to be critically important for supporting the intracellular stability of PRCD, as the knockout of rhodopsin caused a drastic reduction in the photoreceptor content of PRCD
Title: Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability.

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Variation

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Alleles

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

Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables opsin binding	IBA Inferred from Biological aspect of Ancestor more info
enables opsin binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor outer segment membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor outer segment membrane	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: photoreceptor disk component PRCD

Names: progressive rod cone degeneration protein; progressive rod-cone degeneration protein 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_001163318.1 → NP_001156790.1 photoreceptor disk component PRCD

See identical proteins and their annotated locations for NP_001156790.1

Status: VALIDATED

Source sequence(s)

AI846736, CK620045, DQ390337

Consensus CDS

CCDS48987.1

UniProtKB/Swiss-Prot

Q00LT2

Related

ENSMUSP00000112020.3, ENSMUST00000116318.3

Conserved Domains (1) summary

pfam15201
Location:1 → 53

Rod_cone_degen; Progressive rod-cone degeneration

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

116544603..116559224

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314192.1 → XP_017169681.1 photoreceptor disk component PRCD isoform X1

Conserved Domains (1) summary

pfam15201
Location:1 → 46

Rod_cone_degen; Progressive rod-cone degeneration
XM_017314193.1 → XP_017169682.1 photoreceptor disk component PRCD isoform X1

Conserved Domains (1) summary

pfam15201
Location:1 → 46

Rod_cone_degen; Progressive rod-cone degeneration
XM_017314195.3 → XP_017169684.1 photoreceptor disk component PRCD isoform X1

Conserved Domains (1) summary

pfam15201
Location:1 → 46

Rod_cone_degen; Progressive rod-cone degeneration
XM_017314196.3 → XP_017169685.1 photoreceptor disk component PRCD isoform X2
XM_017314194.3 → XP_017169683.1 photoreceptor disk component PRCD isoform X1

Conserved Domains (1) summary

pfam15201
Location:1 → 46

Rod_cone_degen; Progressive rod-cone degeneration