LOCUS       NM_000285               1907 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.
ACCESSION   NM_000285 NM_032652
VERSION     NM_000285.4
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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 1907)
  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 BC015027.1 and AW512991.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000285.3.
            
            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 (1) represents the longest
            transcript and encodes the longest 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 :: SRR3476690.640554.1,
                                           SRR3476690.130374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000244137.12/ ENSP00000244137.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1902              BC015027.1         4-1905
            1903-1907           AW512991.1         11-15               c
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..1907
                     /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..1513
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /EC_number="3.4.13.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_000276.2"
                     /db_xref="CCDS:CCDS42544.1"
                     /db_xref="GeneID:5184"
                     /db_xref="HGNC:HGNC:8840"
                     /db_xref="MIM:613230"
                     /translation="MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGS
                     IVVLQGGEETQRYCTDTGVLFRQESFFHWAFGVTEPGCYGVIDVDTGKSTLFVPRLPA
                     SHATWMGKIHSKEHFKEKYAVDDVQYVDEIASVLTSQKPSVLLTLRGVNTDSGSVCRE
                     ASFDGISKFEVNNTILHPEIVECRVFKTDMELEVLRYTNKISSEAHREVMKAVKVGMK
                     EYELESLFEHYCYSRGGMRHSSYTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFD
                     MGGEYYCFASDITCSFPANGKFTADQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLAD
                     RIHLEELAHMGILSGSVDAMVQAHLGAVFMPHGLGHFLGIDVHDVGGYPEGVERIDEP
                     GLRSLRTARHLQPGMVLTVEPGIYFIDHLLDEALADPARASFLNREVLQRFRGFGGVR
                     IEEDVVVTDSGIELLTCVPRTVEEIEACMAGCDKAFTPFSGPK"
     exon            49..232
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            233..360
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            361..424
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            425..472
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            473..534
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            535..579
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            580..655
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            656..702
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            703..771
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            772..849
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            850..998
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1183
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1375
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1907
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEPD"
                     /gene_synonym="PROLIDASE"
                     /note="hexamer: AATAAA"
     polyA_site      1907
                     /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 aggagtcctt
      241 ctttcactgg gcgttcggtg tcactgagcc aggctgctat ggtgtcatcg atgttgacac
      301 tgggaagtcg accctgtttg tgcccaggct tcctgccagc catgccacct ggatgggaaa
      361 gatccattcc aaggagcact tcaaggagaa gtatgccgtg gacgacgtcc agtacgtaga
      421 tgagattgcc agcgtcctga cgtcacagaa gccctctgtc ctcctcactt tgcgtggcgt
      481 caacacggac agcggcagtg tctgcaggga ggcctccttt gacggcatca gcaagttcga
      541 agtcaacaat accattcttc acccagagat cgttgagtgc cgagtgttta agacggatat
      601 ggagctggag gttctgcgct ataccaataa aatctccagc gaggcccacc gtgaggtaat
      661 gaaggctgta aaagtgggaa tgaaagaata tgagttggaa agcctcttcg agcactactg
      721 ctactcccgg ggcggcatgc gccacagctc ctacacctgc atctgcggca gtggtgagaa
      781 ctcagccgtg ctacactacg gacacgccgg agctcccaac gaccgaacga tccagaatgg
      841 ggatatgtgc ctgttcgaca tgggcggtga gtattactgc ttcgcttccg acatcacctg
      901 ctcctttccc gccaacggca agttcactgc agaccagaag gccgtctatg aggcagtgct
      961 gcggagctcc cgtgccgtca tgggtgccat gaagccaggt gtctggtggc ctgacatgca
     1021 ccgcctggct gaccgcatcc acctggagga gctggcccac atgggcatcc tgagcggcag
     1081 cgtggacgcc atggtccagg ctcacctggg ggccgtgttt atgcctcacg ggcttggcca
     1141 cttcctgggc attgacgtgc acgacgtggg aggctaccca gagggcgtgg agcgcatcga
     1201 cgagcccggc ctgcggagcc tgcgcactgc acggcacctg cagccaggca tggtgctcac
     1261 cgtggagccg ggcatctact tcatcgacca cctcctggat gaggccctgg cggacccggc
     1321 ccgcgcctcc ttccttaacc gcgaggtcct gcagcgcttt cgcggttttg gcggggtccg
     1381 catcgaggag gacgtcgtgg tgactgacag cggcatagag ctgctgacct gcgtgccccg
     1441 cactgtggaa gagattgaag catgcatggc aggctgtgac aaggccttta cccccttctc
     1501 tggccccaag tagagccagc cagaaatccc agcgcacctg ggggcctggc cttgcaacct
     1561 cttttcgtga tgggcagcct gctggtcagc actccagtag cgagagacgg cacccagaat
     1621 cagatcccag cttcggcatt tgatcagacc aaacagtgct gtttcccggg gaggaaacac
     1681 ttttttaatt acccttttgc aggctcccac ctttaatctg ttttatacct tgcttattaa
     1741 atgagcgact taaaatgatt gaaaataatg ctgttcttta gtagcaacta aaatgtgtct
     1801 tgctgtcatt tatattcctt ttcccaggaa agaagcattt ctgatacttt ctgtcaaaaa
     1861 tcaatatgca gaatggcatt tgcaataaaa ggtttcctaa aatggtc
//
