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Protein

Progressive rod-cone degeneration protein

Gene

PRCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in vision.

GO - Biological processi

Keywordsi

Biological processSensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Progressive rod-cone degeneration protein2 Publications
Gene namesi
Name:PRCDImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000214140.10.
HGNCiHGNC:32528. PRCD.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Secreted

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 36 (RP36)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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.
See also OMIM:610599
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0311222C → Y in RP36; decreased protein level; not changed subcellular location at extracellular region. 2 PublicationsCorresponds to variant dbSNP:rs121918369Ensembl.1
Natural variantiVAR_07854025P → T in RP36; no effect on protein level. 1 Publication1
Natural variantiVAR_03112430V → M in RP36; may be a common polymorphism. 1 PublicationCorresponds to variant dbSNP:rs767439982Ensembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi768206.
GeneReviewsiPRCD.
MalaCardsiPRCD.
MIMi610599. phenotype.
OpenTargetsiENSG00000214140.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162400025.

Polymorphism and mutation databases

BioMutaiPRCD.
DMDMi121939885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000028035321 – 54Progressive rod-cone degeneration proteinSequence analysisAdd BLAST34

Proteomic databases

PaxDbiQ00LT1.
PeptideAtlasiQ00LT1.
PRIDEiQ00LT1.

PTM databases

iPTMnetiQ00LT1.
PhosphoSitePlusiQ00LT1.

Expressioni

Gene expression databases

BgeeiENSG00000214140.
CleanExiHS_PRCD.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000465932.

Structurei

3D structure databases

ProteinModelPortaliQ00LT1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JF0K. Eukaryota.
ENOG41118C2. LUCA.
GeneTreeiENSGT00520000058096.
HOGENOMiHOG000090237.
HOVERGENiHBG082166.
InParanoidiQ00LT1.
KOiK19637.
OMAiNRVQPES.
OrthoDBiEOG091G18MM.
PhylomeDBiQ00LT1.

Family and domain databases

InterProiView protein in InterPro
IPR027937. Rod_cone_degen.
PANTHERiPTHR38501. PTHR38501. 1 hit.
PfamiView protein in Pfam
PF15201. Rod_cone_degen. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q00LT1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MCTTLFLLST LAMLWRRRFA NRVQPEPSDV DGAARGSSLD ADPQSSGREK

EPLK
Length:54
Mass (Da):6,007
Last modified:November 14, 2006 - v1
Checksum:i701C17567D2FC54A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0311222C → Y in RP36; decreased protein level; not changed subcellular location at extracellular region. 2 PublicationsCorresponds to variant dbSNP:rs121918369Ensembl.1
Natural variantiVAR_03112317R → C1 PublicationCorresponds to variant dbSNP:rs375181336Ensembl.1
Natural variantiVAR_07854025P → T in RP36; no effect on protein level. 1 Publication1
Natural variantiVAR_03112430V → M in RP36; may be a common polymorphism. 1 PublicationCorresponds to variant dbSNP:rs767439982Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ390338 mRNA. Translation: ABD17429.1.
BC146898 mRNA. Translation: AAI46899.1.
BC146904 mRNA. Translation: AAI46905.1.
CCDSiCCDS42382.1.
RefSeqiNP_001071088.1. NM_001077620.2.
XP_016880502.1. XM_017025013.1.
XP_016880503.1. XM_017025014.1.
XP_016880504.1. XM_017025015.1.
UniGeneiHs.634380.
Hs.743588.

Genome annotation databases

EnsembliENST00000586148; ENSP00000465932; ENSG00000214140.
ENST00000592014; ENSP00000467661; ENSG00000214140.
GeneIDi768206.
KEGGihsa:768206.
UCSCiuc002jrx.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPRCD_HUMAN
AccessioniPrimary (citable) accession number: Q00LT1
Secondary accession number(s): B9EJD4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 14, 2006
Last modified: November 22, 2017
This is version 83 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot