LOCUS       NM_001166057            1715 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens peptidase D (PEPD), transcript variant 3, mRNA.
ACCESSION   NM_001166057
VERSION     NM_001166057.2
KEYWORDS    RefSeq.
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 1715)
  AUTHORS   Eni-Aganga,I., Lanaghan,Z.M., Ismail,F., Korolkova,O.,
            Goodwin,J.S., Balasubramaniam,M., Dash,C. and Pandhare,J.
  TITLE     KLF6 activates Sp1-mediated prolidase transcription during
            TGF-beta1 signaling
  JOURNAL   J Biol Chem 300 (2), 105605 (2024)
   PUBMED   38159857
  REMARK    GeneRIF: KLF6 activates Sp1-mediated prolidase transcription during
            TGF-beta1 signaling.
REFERENCE   2  (bases 1 to 1715)
  AUTHORS   Erol Koc,E.M., Ceyhan,M., Yaman,S., Neselioglu,S., Erel,O. and
            Ozaksit,M.G.
  TITLE     Prolidase as a marker of fibrogenesis in idiopathic primary ovarian
            insufficiency
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 281, 7-11 (2023)
   PUBMED   36521400
  REMARK    GeneRIF: Prolidase as a marker of fibrogenesis in idiopathic
            primary ovarian insufficiency.
REFERENCE   3  (bases 1 to 1715)
  AUTHORS   Ozturk,A., Agbektas,T., Tas,A., Gul,M.A., Karadag,A. and Silig,Y.
  TITLE     The relationship between serum prolidase activity and histone H3
            protein levels and fibromyalgia
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (24), 9098-9106 (2022)
   PUBMED   36591822
  REMARK    GeneRIF: The relationship between serum prolidase activity and
            histone H3 protein levels and fibromyalgia.
REFERENCE   4  (bases 1 to 1715)
  AUTHORS   Rao,S.D., Chen,Q., Wang,Q., Orth-He,E.L., Saoi,M., Griswold,A.R.,
            Bhattacharjee,A., Ball,D.P., Huang,H.C., Chui,A.J., Covelli,D.J.,
            You,S., Cross,J.R. and Bachovchin,D.A.
  TITLE     M24B aminopeptidase inhibitors selectively activate the CARD8
            inflammasome
  JOURNAL   Nat Chem Biol 18 (5), 565-574 (2022)
   PUBMED   35165443
REFERENCE   5  (bases 1 to 1715)
  AUTHORS   Rossignol,F., Wang,H. and Ferreira,C.
  TITLE     Prolidase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26110198
REFERENCE   6  (bases 1 to 1715)
  AUTHORS   Tanoue,A., Endo,F. and Matsuda,I.
  TITLE     Structural organization of the gene for human prolidase (peptidase
            D) and demonstration of a partial gene deletion in a patient with
            prolidase deficiency
  JOURNAL   J Biol Chem 265 (19), 11306-11311 (1990)
   PUBMED   1972707
REFERENCE   7  (bases 1 to 1715)
  AUTHORS   Tanoue,A., Endo,F., Kitano,A. and Matsuda,I.
  TITLE     A single nucleotide change in the prolidase gene in fibroblasts
            from two patients with polypeptide positive prolidase deficiency.
            Expression of the mutant enzyme in NIH 3T3 cells
  JOURNAL   J Clin Invest 86 (1), 351-355 (1990)
   PUBMED   2365824
REFERENCE   8  (bases 1 to 1715)
  AUTHORS   Boright,A.P., Scriver,C.R., Lancaster,G.A. and Choy,F.
  TITLE     Prolidase deficiency: biochemical classification of alleles
  JOURNAL   Am J Hum Genet 44 (5), 731-740 (1989)
   PUBMED   2705457
REFERENCE   9  (bases 1 to 1715)
  AUTHORS   Endo,F., Tanoue,A., Nakai,H., Hata,A., Indo,Y., Titani,K. and
            Matsuda,I.
  TITLE     Primary structure and gene localization of human prolidase
  JOURNAL   J Biol Chem 264 (8), 4476-4481 (1989)
   PUBMED   2925654
REFERENCE   10 (bases 1 to 1715)
  AUTHORS   Friedrich,U., Brunner,H., Smeets,D., Lambermon,E. and Ropers,H.H.
  TITLE     Three-point linkage analysis employing C3 and 19cen markers assigns
            the myotonic dystrophy gene to 19q
  JOURNAL   Hum Genet 75 (3), 291-293 (1987)
   PUBMED   2881880
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC395475.1, AK293126.1,
            BC015027.1 and AW512991.1.
            
            On May 31, 2019 this sequence version replaced NM_001166057.1.
            
            Summary: This gene encodes a member of the peptidase family. The
            protein forms a homodimer that hydrolyzes dipeptides or tripeptides
            with C-terminal proline or hydroxyproline residues. The enzyme
            serves an important role in the recycling of proline, and may be
            rate limiting for the production of collagen. Mutations in this
            gene result in prolidase deficiency, which is characterized by the
            excretion of large amount of di- and tri-peptides containing
            proline. Multiple transcript variants encoding different isoforms
            have been found for this gene.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (3) lacks two alternate in-frame
            exons in the central coding region, compared to variant 1. The
            resulting isoform (3) lacks an internal segment, compared to
            isoform 1.
            
            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 :: AK293126.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DC395475.1         105-107
            4-1061              AK293126.1         1-1058
            1062-1710           BC015027.1         1257-1905
            1711-1715           AW512991.1         11-15               c
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1715
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="peptidase D"
                     /db_xref="GeneID:5184"
                     /db_xref="HGNC:HGNC:8840"
                     /db_xref="MIM:613230"
     exon            1..48
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1321
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /EC_number="3.4.13.9"
                     /note="isoform 3 is encoded by transcript variant 3;
                     proline dipeptidase; xaa-Pro dipeptidase;
                     imidodipeptidase; aminoacyl-L-proline hydrolase; X-Pro
                     dipeptidase; testicular tissue protein Li 138"
                     /codon_start=1
                     /product="xaa-Pro dipeptidase isoform 3"
                     /protein_id="NP_001159529.1"
                     /db_xref="CCDS:CCDS54244.1"
                     /db_xref="GeneID:5184"
                     /db_xref="HGNC:HGNC:8840"
                     /db_xref="MIM:613230"
                     /translation="MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGS
                     IVVLQGGEETQRYCTDTGVLFRQIASVLTSQKPSVLLTLRGVNTDSGSVCREASFDGI
                     SKFEVNNTILHPEIVECRVFKTDMELEVLRYTNKISSEAHREVMKAVKVGMKEYELES
                     LFEHYCYSRGGMRHSSYTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFDMGGEYY
                     CFASDITCSFPANGKFTADQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLADRIHLEE
                     LAHMGILSGSVDAMVQAHLGAVFMPHGLGHFLGIDVHDVGGYPEGVERIDEPGLRSLR
                     TARHLQPGMVLTVEPGIYFIDHLLDEALADPARASFLNREVLQRFRGFGGVRIEEDVV
                     VTDSGIELLTCVPRTVEEIEACMAGCDKAFTPFSGPK"
     exon            49..232
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            233..280
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            281..342
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            343..387
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            388..463
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            464..510
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            511..579
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            580..657
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            658..806
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            807..991
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1183
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1715
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1692..1697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="hexamer: AATAAA"
     polyA_site      1715
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="major polyA site"
ORIGIN      
        1 gcacttcacg tgacgccggt gccgggcgaa catggcggcg gccaccggac cctcgttttg
       61 gctggggaat gaaaccctga aggtgccgct ggcgctcttt gccttgaacc ggcagcgcct
      121 gtgtgagcgg ctgcggaaga accctgctgt gcaggccggc tccatcgtgg tcctgcaggg
      181 cggggaggag actcagcgct actgcaccga caccggggtc ctcttccgcc agattgccag
      241 cgtcctgacg tcacagaagc cctctgtcct cctcactttg cgtggcgtca acacggacag
      301 cggcagtgtc tgcagggagg cctcctttga cggcatcagc aagttcgaag tcaacaatac
      361 cattcttcac ccagagatcg ttgagtgccg agtgtttaag acggatatgg agctggaggt
      421 tctgcgctat accaataaaa tctccagcga ggcccaccgt gaggtaatga aggctgtaaa
      481 agtgggaatg aaagaatatg agttggaaag cctcttcgag cactactgct actcccgggg
      541 cggcatgcgc cacagctcct acacctgcat ctgcggcagt ggtgagaact cagccgtgct
      601 acactacgga cacgccggag ctcccaacga ccgaacgatc cagaatgggg atatgtgcct
      661 gttcgacatg ggcggtgagt attactgctt cgcttccgac atcacctgct cctttcccgc
      721 caacggcaag ttcactgcag accagaaggc cgtctatgag gcagtgctgc ggagctcccg
      781 tgccgtcatg ggtgccatga agccaggtgt ctggtggcct gacatgcacc gcctggctga
      841 ccgcatccac ctggaggagc tggcccacat gggcatcctg agcggcagcg tggacgccat
      901 ggtccaggct cacctggggg ccgtgtttat gcctcacggg cttggccact tcctgggcat
      961 tgacgtgcac gacgtgggag gctacccaga gggcgtggag cgcatcgacg agcccggcct
     1021 gcggagcctg cgcactgcac ggcacctgca gccaggcatg gtgctcaccg tggagccggg
     1081 catctacttc atcgaccacc tcctggatga ggccctggcg gacccggccc gcgcctcctt
     1141 ccttaaccgc gaggtcctgc agcgctttcg cggttttggc ggggtccgca tcgaggagga
     1201 cgtcgtggtg actgacagcg gcatagagct gctgacctgc gtgccccgca ctgtggaaga
     1261 gattgaagca tgcatggcag gctgtgacaa ggcctttacc cccttctctg gccccaagta
     1321 gagccagcca gaaatcccag cgcacctggg ggcctggcct tgcaacctct tttcgtgatg
     1381 ggcagcctgc tggtcagcac tccagtagcg agagacggca cccagaatca gatcccagct
     1441 tcggcatttg atcagaccaa acagtgctgt ttcccgggga ggaaacactt ttttaattac
     1501 ccttttgcag gctcccacct ttaatctgtt ttataccttg cttattaaat gagcgactta
     1561 aaatgattga aaataatgct gttctttagt agcaactaaa atgtgtcttg ctgtcattta
     1621 tattcctttt cccaggaaag aagcatttct gatactttct gtcaaaaatc aatatgcaga
     1681 atggcatttg caataaaagg tttcctaaaa tggtc
//
