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Q00LT1

- PRCD_HUMAN

UniProt

Q00LT1 - PRCD_HUMAN

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
  1. Functioni

    Involved in vision.

    GO - Biological processi

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

    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 Curated; Single-pass membrane protein Curated. Cytoplasm 1 Publication

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    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

    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: October 1, 2014
    This is version 61 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