位置:首页 > 蛋白库 > PRCD_CANLF
PRCD_CANLF
ID   PRCD_CANLF              Reviewed;          54 AA.
AC   Q00LT9; Q00LT3; Q00LT7;
DT   20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   14-NOV-2006, sequence version 1.
DT   03-AUG-2022, entry version 61.
DE   RecName: Full=Photoreceptor disk component PRCD {ECO:0000250|UniProtKB:Q00LT1};
DE   AltName: Full=Progressive rod-cone degeneration protein {ECO:0000303|PubMed:16938425};
GN   Name=PRCD {ECO:0000250|UniProtKB:Q00LT1};
OS   Canis lupus familiaris (Dog) (Canis familiaris).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis.
OX   NCBI_TaxID=9615;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, VARIANT PRCD
RP   TYR-2, AND DISEASE.
RX   PubMed=16938425; DOI=10.1016/j.ygeno.2006.07.007;
RA   Zangerl B., Goldstein O., Philp A.R., Lindauer S.J.P., Pearce-Kelling S.E.,
RA   Mullins R.F., Graphodatsky A.S., Ripoll D., Felix J.S., Stone E.M.,
RA   Acland G.M., Aguirre G.D.;
RT   "Identical mutation in a novel retinal gene causes progressive rod-cone
RT   degeneration in dogs and retinitis pigmentosa in humans.";
RL   Genomics 88:551-563(2006).
CC   -!- FUNCTION: Involved in vision. {ECO:0000269|PubMed:16938425}.
CC   -!- SUBUNIT: Interacts with RHO/rhodopsin; the interaction promotes PRCD
CC       stability. {ECO:0000250|UniProtKB:Q00LT2}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer
CC       segment {ECO:0000250|UniProtKB:Q00LT2}. Membrane
CC       {ECO:0000250|UniProtKB:Q00LT2}; Lipid-anchor
CC       {ECO:0000250|UniProtKB:Q00LT2}; Cytoplasmic side
CC       {ECO:0000250|UniProtKB:Q00LT2}. Endoplasmic reticulum
CC       {ECO:0000250|UniProtKB:Q00LT1}. Golgi apparatus
CC       {ECO:0000250|UniProtKB:Q00LT1}. Note=Localizes to photoreceptor disk
CC       membranes in the photoreceptor outer segment.
CC       {ECO:0000250|UniProtKB:Q00LT2}.
CC   -!- TISSUE SPECIFICITY: Expressed in retina. {ECO:0000269|PubMed:16938425}.
CC   -!- PTM: Palmitoylated at Cys-2. Palmitoylation is essential for protein
CC       stability and trafficking to the photoreceptor outer segment, but does
CC       not appear to be essential for membrane localization. Probably
CC       palmitoylated by ZDHHC3. {ECO:0000250|UniProtKB:Q00LT2}.
CC   -!- PTM: Phosphorylated. {ECO:0000250|UniProtKB:E1B7R9}.
CC   -!- DISEASE: Note=Defects in PRCD are the cause of progressive rod-cone
CC       degeneration (PRCD) (PubMed:16938425). PRCD is the most widespread
CC       hereditary retinal disease leading to blindness in dogs and
CC       phenotypically is the canine counterpart of retinitis pigmentosa in
CC       humans (PubMed:16938425). {ECO:0000269|PubMed:16938425}.
CC   -!- SIMILARITY: Belongs to the PRCD family. {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; DQ390330; ABD17421.1; -; mRNA.
DR   EMBL; DQ390332; ABD17423.1; -; mRNA.
DR   EMBL; DQ390334; ABD17425.1; -; mRNA.
DR   EMBL; DQ390335; ABD17426.1; -; mRNA.
DR   EMBL; DQ390336; ABD17427.1; -; mRNA.
DR   RefSeq; NP_001091029.1; NM_001097560.2.
DR   AlphaFoldDB; Q00LT9; -.
DR   STRING; 9612.ENSCAFP00000041988; -.
DR   PaxDb; Q00LT9; -.
DR   Ensembl; ENSCAFT00030002907; ENSCAFP00030002582; ENSCAFG00030001612.
DR   Ensembl; ENSCAFT00040000123; ENSCAFP00040000089; ENSCAFG00040000075.
DR   Ensembl; ENSCAFT00845030294; ENSCAFP00845023755; ENSCAFG00845017103.
DR   GeneID; 100049006; -.
DR   KEGG; cfa:100049006; -.
DR   CTD; 768206; -.
DR   VEuPathDB; HostDB:ENSCAFG00845017103; -.
DR   eggNOG; ENOG502TE0N; Eukaryota.
DR   GeneTree; ENSGT00520000058096; -.
DR   HOGENOM; CLU_3175255_0_0_1; -.
DR   InParanoid; Q00LT9; -.
DR   OMA; CRRRFAN; -.
DR   OrthoDB; 1638622at2759; -.
DR   Proteomes; UP000002254; Chromosome 9.
DR   Bgee; ENSCAFG00000031593; Expressed in bone marrow and 38 other tissues.
DR   GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR   GO; GO:0005576; C:extracellular region; ISS:UniProtKB.
DR   GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR   GO; GO:0042622; C:photoreceptor outer segment membrane; IEA:Ensembl.
DR   GO; GO:0002046; F:opsin binding; IEA:Ensembl.
DR   GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR   GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR   InterPro; IPR027937; PRCD.
DR   PANTHER; PTHR38501; PTHR38501; 1.
DR   Pfam; PF15201; Rod_cone_degen; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Disease variant; Endoplasmic reticulum; Golgi apparatus;
KW   Lipoprotein; Membrane; Palmitate; Reference proteome; Retinitis pigmentosa;
KW   Sensory transduction; Vision.
FT   CHAIN           1..54
FT                   /note="Photoreceptor disk component PRCD"
FT                   /evidence="ECO:0000255"
FT                   /id="PRO_0000280352"
FT   REGION          24..54
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   LIPID           2
FT                   /note="S-palmitoyl cysteine"
FT                   /evidence="ECO:0000250|UniProtKB:Q00LT1"
FT   VARIANT         2
FT                   /note="C -> Y (in PRCD)"
FT                   /evidence="ECO:0000269|PubMed:16938425"
FT   CONFLICT        21..24
FT                   /note="NRVQ -> PPGP (in Ref. 1; ABD17425/ABD17426/
FT                   ABD17427)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   54 AA;  6050 MW;  8B6530796C672B17 CRC64;
     MCTTLFLLST LAMLWRRRFA NRVQPEPSGA DGAVVGSRSE RDLQSSGRKE EPLK
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024