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PRCD photoreceptor disc component [ Homo sapiens (human) ]

Gene ID: 768206, updated on 23-Nov-2021

Summary

Official Symbol
PRCDprovided by HGNC
Official Full Name
photoreceptor disc componentprovided by HGNC
Primary source
HGNC:HGNC:32528
See related
Ensembl:ENSG00000214140 MIM:610598
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
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Genomic context

See PRCD in Genome Data Viewer
Location:
17q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (76527586..76555339)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74523668..74541458)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene aralkylamine N-acetyltransferase Neighboring gene rhomboid 5 homolog 2 Neighboring gene cytoglobin 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables opsin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in photoreceptor outer segment membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_016702.1 RefSeqGene

    Range
    17459..22791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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
    Q00LT1
    Related
    ENSP00000467661.1, ENST00000592014.6
    Conserved Domains (1) summary
    pfam15201
    Location:154
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    76527586..76555339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q00LT1
    Conserved Domains (1) summary
    pfam15201
    Location:154
    Rod_cone_degen; Progressive rod-cone degeneration
  2. XM_017025015.1XP_016880504.1  photoreceptor disk component PRCD isoform X1

    UniProtKB/Swiss-Prot
    Q00LT1
    Conserved Domains (1) summary
    pfam15201
    Location:154
    Rod_cone_degen; Progressive rod-cone degeneration
  3. XM_017025014.1XP_016880503.1  photoreceptor disk component PRCD isoform X1

    UniProtKB/Swiss-Prot
    Q00LT1
    Conserved Domains (1) summary
    pfam15201
    Location:154
    Rod_cone_degen; Progressive rod-cone degeneration
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