LOCUS       NM_001077620            1989 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens photoreceptor disc component (PRCD), transcript
            variant 1, mRNA.
ACCESSION   NM_001077620
VERSION     NM_001077620.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1989)
  AUTHORS   Murphy,J. and Kolandaivelu,S.
  TITLE     Palmitoylation of Progressive Rod-Cone Degeneration (PRCD)
            Regulates Protein Stability and Localization
  JOURNAL   J Biol Chem 291 (44), 23036-23046 (2016)
   PUBMED   27613864
  REMARK    GeneRIF: Disrupting PRCD palmitoylation eliminating the modified
            cysteine dramatically affects the stability of PRCD.
REFERENCE   2  (bases 1 to 1989)
  AUTHORS   Remez,L., Zobor,D., Kohl,S. and Ben-Yosef,T.
  TITLE     The progressive rod-cone degeneration (PRCD) protein is secreted
            through the conventional ER/Golgi-dependent pathway
  JOURNAL   Exp Eye Res 125, 217-225 (2014)
   PUBMED   24992209
REFERENCE   3  (bases 1 to 1989)
  AUTHORS   Pach,J., Kohl,S., Gekeler,F. and Zobor,D.
  TITLE     Identification of a novel mutation in the PRCD gene causing
            autosomal recessive retinitis pigmentosa in a Turkish family
  JOURNAL   Mol Vis 19, 1350-1355 (2013)
   PUBMED   23805042
  REMARK    GeneRIF: The identification of a third mutation in PRCD confirms
            its role in the pathogenesis of retinitis pigmentosa.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1989)
  AUTHORS   Nevet,M.J., Shalev,S.A., Zlotogora,J., Mazzawi,N. and Ben-Yosef,T.
  TITLE     Identification of a prevalent founder mutation in an Israeli Muslim
            Arab village confirms the role of PRCD in the aetiology of
            retinitis pigmentosa in humans
  JOURNAL   J Med Genet 47 (8), 533-537 (2010)
   PUBMED   20507925
  REMARK    GeneRIF: The identification of a second pathogenic mutation of PRCD
            in multiple retinitis pigmentosa (RP) patients confirms the role of
            PRCD in the aetiology of RP in humans.
REFERENCE   5  (bases 1 to 1989)
  AUTHORS   Zangerl,B., Goldstein,O., Philp,A.R., Lindauer,S.J.,
            Pearce-Kelling,S.E., Mullins,R.F., Graphodatsky,A.S., Ripoll,D.,
            Felix,J.S., Stone,E.M., Acland,G.M. and Aguirre,G.D.
  TITLE     Identical mutation in a novel retinal gene causes progressive
            rod-cone degeneration in dogs and retinitis pigmentosa in humans
  JOURNAL   Genomics 88 (5), 551-563 (2006)
   PUBMED   16938425
REFERENCE   6  (bases 1 to 1989)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015802.21, BC146898.1 and
            BC043413.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001077620.2.
            
            Summary: This gene is predominantly expressed in the retina, and
            mutations in this gene are the cause of autosomal recessive retinal
            degeneration in both humans and dogs. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) represents the protein coding
            transcript.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC146898.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000592014.6/ ENSP00000467661.1
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AC015802.21        79303-79356         c
            55-451              BC146898.1         1-397
            452-1660            AC015802.21        74353-75561         c
            1661-1989           BC043413.1         1534-1862
FEATURES             Location/Qualifiers
     source          1..1989
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1989
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="photoreceptor disc component"
                     /db_xref="GeneID:768206"
                     /db_xref="HGNC:HGNC:32528"
                     /db_xref="MIM:610598"
     exon            1..172
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..263
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="progressive rod-cone degeneration protein"
                     /codon_start=1
                     /product="photoreceptor disk component PRCD"
                     /protein_id="NP_001071088.1"
                     /db_xref="CCDS:CCDS42382.1"
                     /db_xref="GeneID:768206"
                     /db_xref="HGNC:HGNC:32528"
                     /db_xref="MIM:610598"
                     /translation="MCTTLFLLSTLAMLWRRRFANRVQPEPSDVDGAARGSSLDADPQ
                     SSGREKEPLK"
     exon            173..241
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="alignment:Splign:2.1.0"
     exon            242..322
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="alignment:Splign:2.1.0"
     exon            323..415
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="alignment:Splign:2.1.0"
     exon            416..1989
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      463..468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="hexamer: AAGAAA"
     polyA_site      486
                     /gene="PRCD"
                     /gene_synonym="RP36"
     regulatory      1965..1970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="hexamer: ATTAAA"
     polyA_site      1989
                     /gene="PRCD"
                     /gene_synonym="RP36"
                     /note="major polyA site"
ORIGIN      
        1 agacggcagt ggctcctgag agctggctgg ggccattttg gcccctcgcc tgtggccttc
       61 tgcagacttg gcctgggagg ggatggggca gctgcgccat gtgcaccacc cttttcctgc
      121 tcagcaccct ggccatgctc tggcgccgcc gatttgccaa ccgagtccaa ccagagccca
      181 gcgacgtgga tggggcagct aggggcagca gcttggatgc ggaccctcag tcctcaggca
      241 gggagaaaga acctctgaag taagccctca cctctgcagg tggggctcag gcccagagac
      301 tgggatcagc tggctcaggc agctcaggtc ctggttcgtc ccctagccca ggaggatgct
      361 gtgggagctg cagcagcggc aagagggaga atggggggaa gcagcactag agaagttccc
      421 agagctcatc ctgtcactgg ctgctctgct gaaattatca ataagaaatg ccagttggat
      481 ctgtgacatg tctgcctgca gctggatggg agcaacggac agcttgtcct ccgaatgtgt
      541 tttctgtatg tgtgcaagcg cgtgtgttcc aaacgggcag tagcgtgtgg gaaggaaaaa
      601 gcctgacact tgtttttatc aatttgctga tgctcagtcc cggcggctgc ctcctttgcc
      661 cccagctgct ctgccatttc tctcttttca atcctgcatg atcctgagca gagataaaag
      721 cagatttccg cttctgctcc cagatccagg agcagaccct gcaggcagct gctcctgatg
      781 tctcacagct attagtcttc aaaaaccccc cgtgcctctg tgcacacgcg tctctcctcc
      841 ccagccagcc cccctcccag cccagcggcg atgtctctgc ctggctggcc cgtgcccttg
      901 acttccaggc agtagaagat ggagttctct agacagcagc acttcagccg ccactctgcc
      961 tctgaaggga aggaagggaa agggtgaggg atgccgcaga gcagagggaa ccgctgggga
     1021 ggcgctcagg gtgggggagg aggtgcaccc cgctggggag ggcctgctgg tacctcgggg
     1081 agcctggctg gggtgtgtgc gaaggcagtt ctgtgggagc ctctcaaagt agggcaggca
     1141 ggaggcaggg ggaaagtcac actagggaag gagcctgcag aggcaaagcc agagcgccag
     1201 cctgacccag gccgtgagcc cgtgatcgcc tgtctcagct cctgtcagcc tgtctctctc
     1261 tttggaggca tcggccttcc tggtgacagg cctgtcaggc tgagggccag agggcactgt
     1321 tcccgggacc cagtctgtgt tccccgatcc tatctgcatt tattctctat ttgccatgtt
     1381 cctgtcacct catccttgct gccatttccg agttgctcat ctccttccac tggtctgagg
     1441 aattgtcagg ccaaggtcat ggagctggct cacggcccag acgcacttcc ccagggcagc
     1501 gcccctccac gccactgttc cgagaacctg cgcaggaggt ggtggctgct ccagggatcc
     1561 atccagagga agggcgggaa aaagagagga aggggctgct ggcggccagc ggggctgtgg
     1621 ctgcctgggc ttggaggttg cctgggcagc tggggtgcca tgtgggccgg gtgggggggc
     1681 tgtctccccc agggagcagg ctggctttgg tgggagcaga ttgtgtttac accttccccg
     1741 cacacccagc ccacgctcgc ctcttattcc cggggcctct cccacccctg ggctctctgc
     1801 gcagtctgca catttgcagc tcctgctgca gaaagttacc tctctcagcc tagagctccc
     1861 cacagaaggc tcctgggacc cgggtgcccc ttccttggcc cactggctcc catcacaggg
     1921 cttagtgtga agctcagggc aagggtggac ctttaaatgg gggaattaaa tcctgactat
     1981 gacactgtc
//
