LOCUS       NM_002593               1516 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.
ACCESSION   NM_002593
VERSION     NM_002593.4
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 1516)
  AUTHORS   Yao,X., Wang,B., Su,Y., Bing,Z., Li,Q., Dong,Q., Yin,H., Wang,J.,
            Pan,Y. and Yuan,G.
  TITLE     SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in
            Neurofibroma
  JOURNAL   Mol Neurobiol 61 (10), 7862-7876 (2024)
   PUBMED   38436832
  REMARK    GeneRIF: SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE
            in Neurofibroma.
REFERENCE   2  (bases 1 to 1516)
  AUTHORS   Guo,Q., Gao,X., Li,J., Liu,Y., Liu,J., Yang,H., Cui,M., Zhang,M.,
            Duan,L. and Ma,X.
  TITLE     High expression of PCOLCE gene indicate poor prognosis in patients
            and are associated with immune infiltration in glioma
  JOURNAL   Sci Rep 13 (1), 3820 (2023)
   PUBMED   36882457
  REMARK    GeneRIF: High expression of PCOLCE gene indicate poor prognosis in
            patients and are associated with immune infiltration in glioma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1516)
  AUTHORS   Gao,H. and Li,Q.
  TITLE     A pan-cancer analysis of the oncogenic role of procollagen
            C-endopeptidase enhancer (PCOLCE) in human
  JOURNAL   Medicine (Baltimore) 101 (52), e32444 (2022)
   PUBMED   36596064
  REMARK    GeneRIF: A pan-cancer analysis of the oncogenic role of procollagen
            C-endopeptidase enhancer (PCOLCE) in human.
REFERENCE   4  (bases 1 to 1516)
  AUTHORS   Rangan,R., Sad do Valle,R. and Tovar-Vidales,T.
  TITLE     Expression of procollagen C-proteinase enhancer 1 in human
            trabecular meshwork tissues and cells
  JOURNAL   Exp Eye Res 225, 109280 (2022)
   PUBMED   36252654
  REMARK    GeneRIF: Expression of procollagen C-proteinase enhancer 1 in human
            trabecular meshwork tissues and cells.
REFERENCE   5  (bases 1 to 1516)
  AUTHORS   Bayrakci,N., Ozkan,G., Akpinar,S., Ediz,B., Yilmaz,A. and
            Celikkol,A.
  TITLE     Procollagen C-proteinase enhancer-1 and renal failure in multiple
            myeloma
  JOURNAL   Int Urol Nephrol 54 (11), 3033-3038 (2022)
   PUBMED   36173536
  REMARK    GeneRIF: Procollagen C-proteinase enhancer-1 and renal failure in
            multiple myeloma.
REFERENCE   6  (bases 1 to 1516)
  AUTHORS   Mott,J.D., Thomas,C.L., Rosenbach,M.T., Takahara,K., Greenspan,D.S.
            and Banda,M.J.
  TITLE     Post-translational proteolytic processing of procollagen C-terminal
            proteinase enhancer releases a metalloproteinase inhibitor
  JOURNAL   J Biol Chem 275 (2), 1384-1390 (2000)
   PUBMED   10625689
REFERENCE   7  (bases 1 to 1516)
  AUTHORS   Scott,I.C., Clark,T.G., Takahara,K., Hoffman,G.G. and
            Greenspan,D.S.
  TITLE     Structural organization and expression patterns of the human and
            mouse genes for the type I procollagen COOH-terminal proteinase
            enhancer protein
  JOURNAL   Genomics 55 (2), 229-234 (1999)
   PUBMED   9933570
REFERENCE   8  (bases 1 to 1516)
  AUTHORS   Glockner,G., Scherer,S., Schattevoy,R., Boright,A., Weber,J.,
            Tsui,L.C. and Rosenthal,A.
  TITLE     Large-scale sequencing of two regions in human chromosome 7q22:
            analysis of 650 kb of genomic sequence around the EPO and CUTL1
            loci reveals 17 genes
  JOURNAL   Genome Res 8 (10), 1060-1073 (1998)
   PUBMED   9799793
REFERENCE   9  (bases 1 to 1516)
  AUTHORS   Takahara,K., Osborne,L., Elliott,R.W., Tsui,L.C., Scherer,S.W. and
            Greenspan,D.S.
  TITLE     Fine mapping of the human and mouse genes for the type I
            procollagen COOH-terminal proteinase enhancer protein
  JOURNAL   Genomics 31 (2), 253-256 (1996)
   PUBMED   8824813
REFERENCE   10 (bases 1 to 1516)
  AUTHORS   Takahara,K., Kessler,E., Biniaminov,L., Brusel,M., Eddy,R.L.,
            Jani-Sait,S., Shows,T.B. and Greenspan,D.S.
  TITLE     Type I procollagen COOH-terminal proteinase enhancer protein:
            identification, primary structure, and chromosomal localization of
            the cognate human gene (PCOLCE)
  JOURNAL   J Biol Chem 269 (42), 26280-26285 (1994)
   PUBMED   7523404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI837971.1, BC000574.2 and
            BC033205.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002593.3.
            
            Summary: Fibrillar collagen types I-III are synthesized as
            precursor molecules known as procollagens. These precursors contain
            amino- and carboxyl-terminal peptide extensions known as N- and
            C-propeptides, respectively, which are cleaved, upon secretion of
            procollagen from the cell, to yield the mature triple helical,
            highly structured fibrils. This gene encodes a glycoprotein which
            binds and drives the enzymatic cleavage of type I procollagen and
            heightens C-proteinase activity. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.72099.1, BC000574.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000223061.6/ ENSP00000223061.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BI837971.1         105-107
            4-1513              BC000574.2         1-1510
            1514-1516           BC033205.1         1456-1458
FEATURES             Location/Qualifiers
     source          1..1516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1516
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /note="procollagen C-endopeptidase enhancer"
                     /db_xref="GeneID:5118"
                     /db_xref="HGNC:HGNC:8738"
                     /db_xref="MIM:600270"
     exon            1..189
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1444
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /note="procollagen, type 1, COOH-terminal proteinase
                     enhancer; procollagen C-endopeptidase enhancer 1;
                     procollagen C-proteinase enhancer 1; procollagen
                     COOH-terminal proteinase enhancer 1; type 1 procollagen
                     C-proteinase enhancer protein; type I procollagen
                     COOH-terminal proteinase enhancer"
                     /codon_start=1
                     /product="procollagen C-endopeptidase enhancer 1
                     precursor"
                     /protein_id="NP_002584.2"
                     /db_xref="CCDS:CCDS5700.1"
                     /db_xref="GeneID:5118"
                     /db_xref="HGNC:HGNC:8738"
                     /db_xref="MIM:600270"
                     /translation="MLPAATASLLGPLLTACALLPFAQGQTPNYTRPVFLCGGDVKGE
                     SGYVASEGFPNLYPPNKECIWTITVPEGQTVSLSFRVFDLELHPACRYDALEVFAGSG
                     TSGQRLGRFCGTFRPAPLVAPGNQVTLRMTTDEGTGGRGFLLWYSGRATSGTEHQFCG
                     GRLEKAQGTLTTPNWPESDYPPGISCSWHIIAPPDQVIALTFEKFDLEPDTYCRYDSV
                     SVFNGAVSDDSRRLGKFCGDAVPGSISSEGNELLVQFVSDLSVTADGFSASYKTLPRG
                     TAKEGQGPGPKRGTEPKVKLPPKSQPPEKTEESPSAPDAPTCPKQCRRTGTLQSNFCA
                     SSLVVTATVKSMVREPGEGLAVTVSLIGAYKTGGLDLPSPPTGASLKFYVPCKQCPPM
                     KKGVSYLLMGQVEENRGPVLPPESFVVLHRPNQDQILTNLSKRKCPSQPVRAAASQD"
     exon            190..298
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            299..557
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            558..682
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..819
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            820..1034
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1106
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1277
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1516
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /note="hexamer: AATAAA"
     polyA_site      1516
                     /gene="PCOLCE"
                     /gene_synonym="PCPE; PCPE-1; PCPE1"
                     /note="major polyA site"
ORIGIN      
        1 gattatcctg ctgctgccgc caccgctgct gctgctctgc aaaattcagc tgctgcctct
       61 gtcttgagga ccccagcgcc tttcccccgg ggccatgctg cctgcagcca cagcctccct
      121 cctggggccc ctcctcactg cctgcgccct gctgcctttt gcccagggcc agacccccaa
      181 ctacaccaga cccgtgttcc tgtgcggagg ggatgtgaag ggggaatcag gttacgtggc
      241 aagtgagggg ttccccaacc tctacccccc taataaggag tgcatctgga ccataacggt
      301 ccccgagggc cagactgtgt ccctctcatt ccgagtcttc gacctggagc tgcaccccgc
      361 ctgccgctac gatgctctgg aggtcttcgc tgggtctggg acttccggcc agcggctcgg
      421 acgcttttgt gggaccttcc ggcctgcgcc cctagtcgcc cccggcaacc aggtgaccct
      481 gaggatgacg acggatgagg gcacaggagg acgaggcttc ctgctctggt acagcgggcg
      541 ggccacctcg ggcactgagc accaattttg cggggggcgg ctggagaagg cccagggaac
      601 cctgaccacg cccaactggc ccgagtccga ttaccccccg ggcatcagct gttcctggca
      661 catcatcgcg cccccggacc aggtcatcgc gctgaccttc gagaagtttg acctggagcc
      721 ggacacctac tgccgctatg actcggtcag cgtgttcaac ggagccgtga gcgacgactc
      781 ccggaggctg gggaagttct gcggcgacgc agtcccgggc tccatctcct ccgaagggaa
      841 tgaactcctc gtccagttcg tctcagatct cagtgtcacc gctgatggct tctcagcctc
      901 ctacaagacc ctgccgcggg gcactgccaa agaagggcaa gggcccggcc ccaaacgggg
      961 aactgagcct aaagtcaagc tgccccccaa gtcccaacct ccggagaaaa cagaggaatc
     1021 tccttcagcc cctgatgcac ccacctgccc aaagcagtgc cgccggacag gcaccttgca
     1081 gagcaacttc tgtgccagca gccttgtggt gactgcgaca gtgaagtcca tggttcggga
     1141 gccaggggag ggccttgccg tgactgtcag tcttattggt gcttataaaa ctggaggact
     1201 ggacctgcct tctccaccca ctggtgcctc cctgaagttt tacgtgcctt gcaagcagtg
     1261 cccccccatg aagaaaggag tcagttatct gctgatgggc caggtagaag agaacagagg
     1321 ccccgtcctt cctccagaga gctttgtggt tctccaccgg cccaaccagg accagatcct
     1381 caccaaccta agcaagagga agtgcccctc tcaacctgtg cgggctgctg cgtcccagga
     1441 ctgagacgca ggccagcccc ggcccctagc cctcaggcct tctttcttat ccaaataaat
     1501 gtttcttaat gaggaa
//
