Human Gene PRCD (uc002jrx.2)
  Description: Homo sapiens progressive rod-cone degeneration (PRCD), transcript variant 1, mRNA.
RefSeq Summary (NM_001077620): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:74,536,121-74,541,458 Size: 5,338 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr17:74,536,224-74,538,656 Size: 2,433 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:74,536,121-74,541,458)mRNA (may differ from genome)Protein (54 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRCD_HUMAN
DESCRIPTION: RecName: Full=Progressive rod-cone degeneration protein;
FUNCTION: Involved in vision.
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). Cytoplasm.
DISEASE: Defects in PRCD are the cause of retinitis pigmentosa type 36 (RP36) [MIM:610599]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PRCD
Diseases sorted by gene-association score: retinitis pigmentosa 36* (1229), prcd-related retinitis pigmentosa* (500), rhyns syndrome* (179), retinitis pigmentosa* (164), retinitis pigmentosa 17 (8)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.25 RPKM in Brain - Cerebellum
Total median expression: 62.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.50103-0.461 Picture PostScript Text
3' UTR -776.401726-0.450 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15201 - Progressive rod-cone degeneration

ModBase Predicted Comparative 3D Structure on Q00LT1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007601 visual perception
GO:0050896 response to stimulus

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus


-  Descriptions from all associated GenBank mRNAs
  AK125617 - Homo sapiens cDNA FLJ43629 fis, clone SPLEN2029727.
BC043413 - Homo sapiens, clone IMAGE:6158804, mRNA.
DQ390338 - Homo sapiens progressive rod-cone degeneration (PRCD) mRNA, complete cds.
BC146898 - Homo sapiens progressive rod-cone degeneration, mRNA (cDNA clone MGC:182001 IMAGE:9056826), complete cds.
BC146904 - Homo sapiens progressive rod-cone degeneration, mRNA (cDNA clone MGC:182007 IMAGE:9056832), complete cds.
AK054729 - Homo sapiens cDNA FLJ30167 fis, clone BRACE2000743.

-  Other Names for This Gene
  Alternate Gene Symbols: B9EJD4, NM_001077620, NP_001071088, PRCD_HUMAN, Q00LT1
UCSC ID: uc002jrx.2
RefSeq Accession: NM_001077620
Protein: Q00LT1 (aka PRCD_HUMAN)
CCDS: CCDS42382.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PRCD:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: yes RNA accession: NM_001077620.2
exon count: 5CDS single in 3' UTR: no RNA size: 2010
ORF size: 165CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 948.00frame shift in genome: no % Coverage: 99.20
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 1006# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.