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    PRCD photoreceptor disc component [ Homo sapiens (human) ]

    Gene ID: 768206, updated on 2-May-2024

    Summary

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    Official Symbol
    PRCDprovided by HGNC
    Official Full Name
    photoreceptor disc componentprovided by HGNC
    Primary source
    HGNC:HGNC:32528
    See related
    Ensembl:ENSG00000214140 MIM:610598; AllianceGenome:HGNC:32528
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP36
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 1.8), adrenal (RPKM 1.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRCD in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76527586..76553580)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77424329..77450324)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74523668..74541458)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74449240-74449408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12808 Neighboring gene aralkylamine N-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74469380-74469890 Neighboring gene rhomboid 5 homolog 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9020 Neighboring gene Sharpr-MPRA regulatory region 10531 Neighboring gene MPRA-validated peak3008 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74487839-74488704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74496763-74497432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12809 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74506318-74506528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74508911-74509513 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74518115-74518272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74525989-74526722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74526723-74527456 Neighboring gene cytoglobin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74543392-74543895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12811 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74553466-74554266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74554267-74555068 Neighboring gene small nucleolar RNA, C/D box 1C Neighboring gene small nucleolar RNA host gene 16 Neighboring gene small nucleolar RNA, C/D box 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. Pach J, et al. Mol Vis, 2013. PMID 23805042, Free PMC Article
    2. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. Nevet MJ, et al. J Med Genet, 2010 Aug. PMID 20507925
    3. The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway. Remez L, et al. Exp Eye Res, 2014 Aug. PMID 24992209
    4. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Zangerl B, et al. Genomics, 2006 Nov. PMID 16938425, Free PMC Article
    5. Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization. Murphy J, et al. J Biol Chem, 2016 Oct 28. PMID 27613864, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. The identification of a third mutation in PRCD confirms its role in the pathogenesis of retinitis pigmentosa.
      Title: Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
    3. The identification of a second pathogenic mutation of PRCD in multiple retinitis pigmentosa (RP) patients confirms the role of PRCD in the aetiology of RP in humans.
      Title: Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa 36
    MedGen: C1864621 OMIM: 610599 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables opsin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region 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 

    General protein information

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    Preferred Names
    photoreceptor disk component PRCD
    Names
    progressive rod-cone degeneration protein

    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.

    Genomic

    1. NG_016702.2 RefSeqGene

      Range
      17460..22792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077620.3 → NP_001071088.1  photoreceptor disk component PRCD

      See identical proteins and their annotated locations for NP_001071088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein coding transcript.
      Source sequence(s)
      AC015802, BC043413, BC146898
      Consensus CDS
      CCDS42382.1
      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1
      Related
      ENSP00000467661.1, ENST00000592014.6
      Conserved Domains (1) summary
      pfam15201
      Location:1 → 54
      Rod_cone_degen; Progressive rod-cone degeneration

    RNA

    1. NR_033357.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. It is represented as non-coding because it lacks the ORF found in variant 1.
      Source sequence(s)
      AC015802, AK125617, AL567583, BC043413
      Related
      ENST00000397633.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76527586..76553580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025014.2 → XP_016880503.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1
      Conserved Domains (1) summary
      pfam15201
      Location:1 → 54
      Rod_cone_degen; Progressive rod-cone degeneration

    2. XM_017025013.2 → XP_016880502.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1
      Related
      ENST00000592432.5
      Conserved Domains (1) summary
      pfam15201
      Location:1 → 54
      Rod_cone_degen; Progressive rod-cone degeneration

    3. XM_047436657.1 → XP_047292613.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1

    4. XM_047436658.1 → XP_047292614.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1

    5. XM_047436659.1 → XP_047292615.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1

    6. XM_017025015.2 → XP_016880504.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1
      Related
      ENSP00000465932.1, ENST00000586148.1
      Conserved Domains (1) summary
      pfam15201
      Location:1 → 54
      Rod_cone_degen; Progressive rod-cone degeneration

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77424329..77450324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317064.1 → XP_054173039.1  photoreceptor disk component PRCD isoform X2

    2. XM_054317063.1 → XP_054173038.1  photoreceptor disk component PRCD isoform X2

    3. XM_054317065.1 → XP_054173040.1  photoreceptor disk component PRCD isoform X3

    4. XM_054317066.1 → XP_054173041.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1

    5. XM_054317067.1 → XP_054173042.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1

    6. XM_054317068.1 → XP_054173043.1  photoreceptor disk component PRCD isoform X1

      UniProtKB/Swiss-Prot
      B9EJD4, Q00LT1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00LT1.1 GenPept UniProtKB/Swiss-Prot:Q00LT1

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