PRCD
Photoreceptor disk component PRCD
Also known as: PRCD_HUMAN, RP36
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q00LT1
- Gene
- PRCD
- Ensembl
- ENSG00000214140
- Chromosome
- 17
- Canonical length
- 54 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
54 residues, UniProt reviewed canonical sequence.
>Q00LT1|PRCD
1 MCTTLFLLST LAMLWRRRFA NRVQPEPSDV DGAARGSSLD ADPQSSGREK EPLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRCD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- retina: 45 nTPM
- cerebellum: 4.6 nTPM
- heart muscle: 1.2 nTPM
- spleen: 1 nTPM
- adipose tissue: 0.9 nTPM
- breast: 0.9 nTPM
Single-cell type
- rod photoreceptor cells: 331 nCPM
- cone photoreceptor cells: 95 nCPM
- retinal bipolar cells: 60 nCPM
- retinal pigment epithelial cells: 43 nCPM
- pericytes: 32 nCPM
- b-cells: 27 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 7.7 nTPM
- choroid plexus: 5.2 nTPM
- pons: 5 nTPM
- medulla oblongata: 3.4 nTPM
- cerebral cortex: 3.3 nTPM
- midbrain: 3.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRCD.
Disease | AllUniProt
Conditions PRCD is implicated in, by any mechanism.
- Retinitis pigmentosa 36 (RP36) MIM:610599
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 149 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 36
- Retinitis pigmentosa
- Retinal dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.58
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.3
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Photoreceptor disk component PRCD
- Progressive rod-cone degeneration
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PRCD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PRCD as an antibody target. Whether an autoantibody or antibody against PRCD could matter depends on whether native PRCD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRCD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PRCD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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