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Protein

Progressive rod-cone degeneration protein

Gene

PRCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi610598 gene
neXtProtiNX_Q00LT1

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:rs121918369EnsemblClinVar.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
ProteomicsDBi57903

PTM databases

iPTMnetiQ00LT1
PhosphoSitePlusiQ00LT1
SwissPalmiQ00LT1

Expressioni

Gene expression databases

BgeeiENSG00000214140 Expressed in 149 organ(s), highest expression level in right hemisphere of cerebellum
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:rs121918369EnsemblClinVar.1
Natural variantiVAR_03112317R → C1 PublicationCorresponds to variant dbSNP:rs375181336EnsemblClinVar.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

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
SwissPalmiQ00LT1

Polymorphism and mutation databases

BioMutaiPRCD
DMDMi121939885

Proteomic databases

PaxDbiQ00LT1
PeptideAtlasiQ00LT1
PRIDEiQ00LT1
ProteomicsDBi57903

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
EuPathDBiHostDB:ENSG00000214140.10
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

Miscellaneous databases

ChiTaRSiPRCD human
GenomeRNAii768206
PROiPR:Q00LT1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000214140 Expressed in 149 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_PRCD

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
ProtoNetiSearch...

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: September 12, 2018
This is version 86 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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