Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Progressive rod-cone degeneration protein

Gene

PRCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Involved in vision.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Progressive rod-cone degeneration protein
Gene namesi
Name:PRCD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:32528. PRCD.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei3 – 2321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 36 (RP36)1 Publication

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21C → Y in RP36. 1 Publication
VAR_031122
Natural varianti30 – 301V → M in RP36; may be a common polymorphism. 1 Publication
VAR_031124

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi610599. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162400025.

Polymorphism and mutation databases

BioMutaiPRCD.
DMDMi121939885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 5454Progressive rod-cone degeneration proteinPRO_0000280353Add
BLAST

Proteomic databases

PaxDbiQ00LT1.
PRIDEiQ00LT1.

PTM databases

PhosphoSiteiQ00LT1.

Expressioni

Gene expression databases

BgeeiQ00LT1.
CleanExiHS_PRCD.
GenevestigatoriQ00LT1.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000380754.

Structurei

3D structure databases

ProteinModelPortaliQ00LT1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG247471.
GeneTreeiENSGT00520000058096.
HOGENOMiHOG000090237.
HOVERGENiHBG082166.
InParanoidiQ00LT1.
OMAiNRVQPES.
OrthoDBiEOG7C8GM9.
PhylomeDBiQ00LT1.

Family and domain databases

InterProiIPR027937. Rod_cone_degen.
[Graphical view]
PfamiPF15201. Rod_cone_degen. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21C → Y in RP36. 1 Publication
VAR_031122
Natural varianti17 – 171R → C.1 Publication
VAR_031123
Natural varianti30 – 301V → M in RP36; may be a common polymorphism. 1 Publication
VAR_031124

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.
UniGeneiHs.634380.
Hs.743588.

Genome annotation databases

EnsembliENST00000586148; ENSP00000465932; ENSG00000214140.
ENST00000592014; ENSP00000467661; ENSG00000214140.
GeneIDi768206.
KEGGihsa:768206.
UCSCiuc002jrx.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
UniGeneiHs.634380.
Hs.743588.

3D structure databases

ProteinModelPortaliQ00LT1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000380754.

PTM databases

PhosphoSiteiQ00LT1.

Polymorphism and mutation databases

BioMutaiPRCD.
DMDMi121939885.

Proteomic databases

PaxDbiQ00LT1.
PRIDEiQ00LT1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000586148; ENSP00000465932; ENSG00000214140.
ENST00000592014; ENSP00000467661; ENSG00000214140.
GeneIDi768206.
KEGGihsa:768206.
UCSCiuc002jrx.2. human.

Organism-specific databases

CTDi768206.
GeneCardsiGC17P074523.
GeneReviewsiPRCD.
HGNCiHGNC:32528. PRCD.
MIMi610598. gene.
610599. phenotype.
neXtProtiNX_Q00LT1.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162400025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG247471.
GeneTreeiENSGT00520000058096.
HOGENOMiHOG000090237.
HOVERGENiHBG082166.
InParanoidiQ00LT1.
OMAiNRVQPES.
OrthoDBiEOG7C8GM9.
PhylomeDBiQ00LT1.

Miscellaneous databases

ChiTaRSiPRCD. human.
GenomeRNAii768206.
NextBioi135606.
PROiQ00LT1.
SOURCEiSearch...

Gene expression databases

BgeeiQ00LT1.
CleanExiHS_PRCD.
GenevestigatoriQ00LT1.

Family and domain databases

InterProiIPR027937. Rod_cone_degen.
[Graphical view]
PfamiPF15201. Rod_cone_degen. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans."
    Zangerl B., Goldstein O., Philp A.R., Lindauer S.J.P., Pearce-Kelling S.E., Mullins R.F., Graphodatsky A.S., Ripoll D., Felix J.S., Stone E.M., Acland G.M., Aguirre G.D.
    Genomics 88:551-563(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, VARIANTS RP36 TYR-2 AND MET-30, VARIANT CYS-17.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.

Entry informationi

Entry nameiPRCD_HUMAN
AccessioniPrimary (citable) accession number: Q00LT1
Secondary accession number(s): B9EJD4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 14, 2006
Last modified: April 29, 2015
This is version 65 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.