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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

Enzyme and pathway databases

BioCyciZFISH:G66-33480-MONOMER.

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:32528. PRCD.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei3 – 23HelicalSequence analysisAdd BLAST21

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0311222C → Y in RP36. 1 PublicationCorresponds to variant rs121918369dbSNPEnsembl.1
Natural variantiVAR_03112430V → M in RP36; may be a common polymorphism. 1 PublicationCorresponds to variant rs767439982dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiPRCD.
DMDMi121939885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002803531 – 54Progressive rod-cone degeneration proteinAdd BLAST54

Proteomic databases

PaxDbiQ00LT1.
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

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410JF0K. Eukaryota.
ENOG41118C2. LUCA.
GeneTreeiENSGT00520000058096.
HOGENOMiHOG000090237.
HOVERGENiHBG082166.
InParanoidiQ00LT1.
KOiK19637.
OMAiNRVQPES.
OrthoDBiEOG091G18MM.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0311222C → Y in RP36. 1 PublicationCorresponds to variant rs121918369dbSNPEnsembl.1
Natural variantiVAR_03112317R → C.1 PublicationCorresponds to variant rs375181336dbSNPEnsembl.1
Natural variantiVAR_03112430V → M in RP36; may be a common polymorphism. 1 PublicationCorresponds to variant rs767439982dbSNPEnsembl.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

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.
XP_016880502.1. XM_017025013.1.
XP_016880503.1. XM_017025014.1.
XP_016880504.1. XM_017025015.1.
UniGeneiHs.634380.
Hs.743588.

3D structure databases

ProteinModelPortaliQ00LT1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000465932.

PTM databases

iPTMnetiQ00LT1.
PhosphoSitePlusiQ00LT1.

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.3. human.

Organism-specific databases

CTDi768206.
DisGeNETi768206.
GeneCardsiPRCD.
GeneReviewsiPRCD.
HGNCiHGNC:32528. PRCD.
MalaCardsiPRCD.
MIMi610598. gene.
610599. phenotype.
neXtProtiNX_Q00LT1.
OpenTargetsiENSG00000214140.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA162400025.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:G66-33480-MONOMER.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000214140.
CleanExiHS_PRCD.

Family and domain databases

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

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: November 2, 2016
This is version 77 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

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 one 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.