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Q00LT1

- PRCD_HUMAN

UniProt

Q00LT1 - PRCD_HUMAN

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Protein

Progressive rod-cone degeneration protein

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

Functioni

Involved in vision.

GO - Biological processi

  1. response to stimulus Source: UniProtKB-KW
  2. visual perception Source: UniProtKB-KW
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: Chromosome 17

Organism-specific databases

HGNCiHGNC:32528. PRCD.

Subcellular locationi

Membrane; Single-pass membrane protein Reviewed prediction. Cytoplasm 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei3 – 2321Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 36 (RP36) [MIM:610599]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

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.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG247471.
HOGENOMiHOG000090237.
HOVERGENiHBG082166.
OMAiRISAFMN.
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

MCTTLFLLST LAMLWRRRFA NRVQPEPSDV DGAARGSSLD ADPQSSGREK   50
EPLK 54
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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi121939885.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ390338 mRNA. Translation: ABD17429.1 .
BC146898 mRNA. Translation: AAI46899.1 .
BC146904 mRNA. Translation: AAI46905.1 .
CCDSi CCDS42382.1.
RefSeqi NP_001071088.1. NM_001077620.2.
UniGenei Hs.634380.
Hs.743588.

3D structure databases

ProteinModelPortali Q00LT1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000380754.

PTM databases

PhosphoSitei Q00LT1.

Polymorphism databases

DMDMi 121939885.

Proteomic databases

PaxDbi Q00LT1.
PRIDEi Q00LT1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000586148 ; ENSP00000465932 ; ENSG00000214140 .
ENST00000592014 ; ENSP00000467661 ; ENSG00000214140 .
GeneIDi 768206.
KEGGi hsa:768206.
UCSCi uc002jrx.2. human.

Organism-specific databases

CTDi 768206.
GeneCardsi GC17P074523.
GeneReviewsi PRCD.
HGNCi HGNC:32528. PRCD.
MIMi 610598. gene.
610599. phenotype.
neXtProti NX_Q00LT1.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA162400025.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247471.
HOGENOMi HOG000090237.
HOVERGENi HBG082166.
OMAi RISAFMN.
OrthoDBi EOG7C8GM9.
PhylomeDBi Q00LT1.

Miscellaneous databases

GenomeRNAii 768206.
NextBioi 135606.
PROi Q00LT1.
SOURCEi Search...

Gene expression databases

Bgeei Q00LT1.
CleanExi HS_PRCD.
Genevestigatori Q00LT1.

Family and domain databases

InterProi IPR027937. Rod_cone_degen.
[Graphical view ]
Pfami PF15201. Rod_cone_degen. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 60 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

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