PRCD_HUMAN
ID PRCD_HUMAN Reviewed; 54 AA.
AC Q00LT1; B9EJD4;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 14-NOV-2006, sequence version 1.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Photoreceptor disk component PRCD {ECO:0000312|HGNC:HGNC:32528};
DE AltName: Full=Progressive rod-cone degeneration protein {ECO:0000303|PubMed:16938425, ECO:0000303|PubMed:24992209};
GN Name=PRCD {ECO:0000312|HGNC:HGNC:32528};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, VARIANTS RP36
RP TYR-2 AND MET-30, VARIANT CYS-17, AND INVOLVEMENT IN RP36.
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, PALMITOYLATION, VARIANTS RP36 TYR-2 AND
RP THR-25, AND CHARACTERIZATION OF VARIANTS RP36 TYR-2 AND THR-25.
RX PubMed=24992209; DOI=10.1016/j.exer.2014.06.017;
RA Remez L., Zobor D., Kohl S., Ben-Yosef T.;
RT "The progressive rod-cone degeneration (PRCD) protein is secreted through
RT the conventional ER/Golgi-dependent pathway.";
RL Exp. Eye Res. 125:217-225(2014).
RN [4]
RP SUBCELLULAR LOCATION, PALMITOYLATION AT CYS-2, AND CHARACTERIZATION OF
RP VARIANTS RP36 TYR-2 AND MET-30.
RX PubMed=27613864; DOI=10.1074/jbc.m116.742767;
RA Murphy J., Kolandaivelu S.;
RT "Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates
RT Protein Stability and Localization.";
RL J. Biol. Chem. 291:23036-23046(2016).
CC -!- FUNCTION: Involved in vision. {ECO:0000269|PubMed:16938425,
CC ECO:0000269|PubMed:24992209}.
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:0000269|PubMed:27613864}. Membrane
CC {ECO:0000269|PubMed:27613864}; Lipid-anchor
CC {ECO:0000269|PubMed:27613864}; Cytoplasmic side
CC {ECO:0000250|UniProtKB:Q00LT2}. Endoplasmic reticulum
CC {ECO:0000269|PubMed:24992209}. Golgi apparatus
CC {ECO:0000269|PubMed:24992209}. Note=Localizes to photoreceptor disk
CC membranes in the photoreceptor outer segment (PubMed:27613864). The
CC secretion in media described in PubMed:24992209 is probably an
CC experimental artifact (PubMed:24992209). {ECO:0000269|PubMed:24992209,
CC ECO:0000269|PubMed:27613864}.
CC -!- PTM: Palmitoylated at Cys-2 (PubMed:27613864). Palmitoylation is
CC essential for protein stability and trafficking to the photoreceptor
CC outer segment, but does not appear to be essential for membrane
CC localization (PubMed:27613864). Probably palmitoylated by ZDHHC3
CC (PubMed:27613864). {ECO:0000269|PubMed:27613864}.
CC -!- PTM: Phosphorylated. {ECO:0000250|UniProtKB:E1B7R9}.
CC -!- DISEASE: Retinitis pigmentosa 36 (RP36) [MIM:610599]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:16938425,
CC ECO:0000269|PubMed:24992209, ECO:0000269|PubMed:27613864}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the PRCD family. {ECO:0000305}.
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DR EMBL; DQ390338; ABD17429.1; -; mRNA.
DR EMBL; BC146898; AAI46899.1; -; mRNA.
DR EMBL; BC146904; AAI46905.1; -; mRNA.
DR CCDS; CCDS42382.1; -.
DR RefSeq; NP_001071088.1; NM_001077620.2.
DR RefSeq; XP_016880502.1; XM_017025013.1.
DR RefSeq; XP_016880503.1; XM_017025014.1.
DR RefSeq; XP_016880504.1; XM_017025015.1.
DR AlphaFoldDB; Q00LT1; -.
DR BioGRID; 612840; 1.
DR STRING; 9606.ENSP00000465932; -.
DR iPTMnet; Q00LT1; -.
DR PhosphoSitePlus; Q00LT1; -.
DR SwissPalm; Q00LT1; -.
DR BioMuta; PRCD; -.
DR DMDM; 121939885; -.
DR MassIVE; Q00LT1; -.
DR PaxDb; Q00LT1; -.
DR PeptideAtlas; Q00LT1; -.
DR PRIDE; Q00LT1; -.
DR ProteomicsDB; 57903; -.
DR Antibodypedia; 64642; 2 antibodies from 2 providers.
DR DNASU; 768206; -.
DR Ensembl; ENST00000586148.1; ENSP00000465932.1; ENSG00000214140.11.
DR Ensembl; ENST00000592014.6; ENSP00000467661.1; ENSG00000214140.11.
DR GeneID; 768206; -.
DR KEGG; hsa:768206; -.
DR MANE-Select; ENST00000592014.6; ENSP00000467661.1; NM_001077620.3; NP_001071088.1.
DR UCSC; uc002jrx.3; human.
DR CTD; 768206; -.
DR DisGeNET; 768206; -.
DR GeneCards; PRCD; -.
DR GeneReviews; PRCD; -.
DR HGNC; HGNC:32528; PRCD.
DR HPA; ENSG00000214140; Tissue enriched (retina).
DR MalaCards; PRCD; -.
DR MIM; 610598; gene.
DR MIM; 610599; phenotype.
DR neXtProt; NX_Q00LT1; -.
DR OpenTargets; ENSG00000214140; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA162400025; -.
DR VEuPathDB; HostDB:ENSG00000214140; -.
DR eggNOG; ENOG502TE0N; Eukaryota.
DR GeneTree; ENSGT00520000058096; -.
DR HOGENOM; CLU_3175255_0_0_1; -.
DR InParanoid; Q00LT1; -.
DR OMA; CRRRFAN; -.
DR OrthoDB; 1379813at2759; -.
DR PhylomeDB; Q00LT1; -.
DR PathwayCommons; Q00LT1; -.
DR BioGRID-ORCS; 768206; 10 hits in 1054 CRISPR screens.
DR GenomeRNAi; 768206; -.
DR Pharos; Q00LT1; Tdark.
DR PRO; PR:Q00LT1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q00LT1; protein.
DR Bgee; ENSG00000214140; Expressed in right hemisphere of cerebellum and 130 other tissues.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0042622; C:photoreceptor outer segment membrane; IDA:UniProtKB.
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; Phosphoprotein; Reference proteome;
KW Retinitis pigmentosa; Sensory transduction; Vision.
FT CHAIN 1..54
FT /note="Photoreceptor disk component PRCD"
FT /evidence="ECO:0000255"
FT /id="PRO_0000280353"
FT REGION 25..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 2
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000269|PubMed:27613864"
FT VARIANT 2
FT /note="C -> Y (in RP36; loss of palmitoylation; reduced
FT protein stability; fails to localize to the photoreceptor
FT outer segment; dbSNP:rs121918369)"
FT /evidence="ECO:0000269|PubMed:16938425,
FT ECO:0000269|PubMed:24992209"
FT /id="VAR_031122"
FT VARIANT 17
FT /note="R -> C (in dbSNP:rs375181336)"
FT /evidence="ECO:0000269|PubMed:16938425"
FT /id="VAR_031123"
FT VARIANT 25
FT /note="P -> T (in RP36; no effect on protein level)"
FT /evidence="ECO:0000269|PubMed:24992209"
FT /id="VAR_078540"
FT VARIANT 30
FT /note="V -> M (in RP36; unknown pathological significance;
FT no effect on protein stability; dbSNP:rs767439982)"
FT /evidence="ECO:0000269|PubMed:16938425,
FT ECO:0000269|PubMed:27613864"
FT /id="VAR_031124"
SQ SEQUENCE 54 AA; 6007 MW; 701C17567D2FC54A CRC64;
MCTTLFLLST LAMLWRRRFA NRVQPEPSDV DGAARGSSLD ADPQSSGREK EPLK
