LOCUS       NM_020383               2497 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens X-prolyl aminopeptidase 1 (XPNPEP1), transcript
            variant 1, mRNA.
ACCESSION   NM_020383 NM_006523
VERSION     NM_020383.4
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 2497)
  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   2  (bases 1 to 2497)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2497)
  AUTHORS   Chang,H.C., Kung,C.C., Chang,T.T., Jao,S.C., Hsu,Y.T. and Li,W.S.
  TITLE     Investigation of the proton relay system operative in human
            cystosolic aminopeptidase P
  JOURNAL   PLoS One 13 (1), e0190816 (2018)
   PUBMED   29351301
  REMARK    GeneRIF: Alanine replacement of Arg535 destabilizes the AMPP dimer
            and guanidine hydrochloride restores the native monomer-dimer
            equilibrium. It is proposed that Arg535 plays an important role in
            AMMP catalysis and in stabilization of the catalytically active
            dimeric state
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2497)
  AUTHORS   Grilo,A., Saez-Rosas,M.P., Santos-Morano,J., Sanchez,E.,
            Moreno-Rey,C., Real,L.M., Ramirez-Lorca,R. and Saez,M.E.
  TITLE     Identification of genetic factors associated with susceptibility to
            angiotensin-converting enzyme inhibitors-induced cough
  JOURNAL   Pharmacogenet Genomics 21 (1), 10-17 (2011)
   PUBMED   21052031
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, gene-environment interaction, and pharmacogenomic /
            toxicogenomic. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2497)
  AUTHORS   Garcia-Barcelo,M.M., Yeung,M.Y., Miao,X.P., Tang,C.S., Cheng,G.,
            So,M.T., Ngan,E.S., Lui,V.C., Chen,Y., Liu,X.L., Hui,K.J., Li,L.,
            Guo,W.H., Sun,X.B., Tou,J.F., Chan,K.W., Wu,X.Z., Song,Y.Q.,
            Chan,D., Cheung,K., Chung,P.H., Wong,K.K., Sham,P.C., Cherny,S.S.
            and Tam,P.K.
  TITLE     Genome-wide association study identifies a susceptibility locus for
            biliary atresia on 10q24.2
  JOURNAL   Hum Mol Genet 19 (14), 2917-2925 (2010)
   PUBMED   20460270
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Hum Mol Genet. 2011 Mar 1;20(5):1048. Chen, Guo [corrected
            to Cheng, Guo]]
REFERENCE   6  (bases 1 to 2497)
  AUTHORS   Cottrell,G.S., Hooper,N.M. and Turner,A.J.
  TITLE     Cloning, expression, and characterization of human cytosolic
            aminopeptidase P: a single manganese(II)-dependent enzyme
  JOURNAL   Biochemistry 39 (49), 15121-15128 (2000)
   PUBMED   11106490
REFERENCE   7  (bases 1 to 2497)
  AUTHORS   Sprinkle,T.J., Caldwell,C. and Ryan,J.W.
  TITLE     Cloning, chromosomal sublocalization of the human soluble
            aminopeptidase P gene (XPNPEP1) to 10q25.3 and conservation of the
            putative proton shuttle and metal ligand binding sites with XPNPEP2
  JOURNAL   Arch Biochem Biophys 378 (1), 51-56 (2000)
   PUBMED   10871044
REFERENCE   8  (bases 1 to 2497)
  AUTHORS   Vanhoof,G., Goossens,F., Juliano,M.A., Juliano,L., Hendriks,D.,
            Schatteman,K., Lin,A.H. and Scharpe,S.
  TITLE     Isolation and sequence analysis of a human cDNA clone (XPNPEPL)
            homologous to X-prolyl aminopeptidase (aminopeptidase P)
  JOURNAL   Cytogenet Cell Genet 78 (3-4), 275-280 (1997)
   PUBMED   9465902
REFERENCE   9  (bases 1 to 2497)
  AUTHORS   Vanhoof,G., De Meester,I., Goossens,F., Hendriks,D., Scharpe,S. and
            Yaron,A.
  TITLE     Kininase activity in human platelets: cleavage of the Arg1-Pro2
            bond of bradykinin by aminopeptidase P
  JOURNAL   Biochem Pharmacol 44 (3), 479-487 (1992)
   PUBMED   1510698
REFERENCE   10 (bases 1 to 2497)
  AUTHORS   Blau,N., Niederwieser,A. and Shmerling,D.H.
  TITLE     Peptiduria presumably caused by aminopeptidase-P deficiency. A new
            inborn error of metabolism
  JOURNAL   J Inherit Metab Dis 11 Suppl 2, 240-242 (1988)
   PUBMED   3141711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA484161.1 and BC007579.1.
            
            On Nov 22, 2018 this sequence version replaced NM_020383.3.
            
            Summary: This gene encodes the cytosolic form of a
            metalloaminopeptidase that catalyzes the cleavage of the N-terminal
            amino acid adjacent to a proline residue. The gene product may play
            a role in degradation and maturation of tachykinins, neuropeptides,
            and peptide hormones. Alternative splicing results in multiple
            transcript variants.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (1) encodes 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 :: SRR3476690.386604.1,
                                           SRR5189661.135035.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000502935.6/ ENSP00000421566.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                DA484161.1         39-105
            68-2497             BC007579.1         1-2430
FEATURES             Location/Qualifiers
     source          1..2497
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..2497
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /note="X-prolyl aminopeptidase 1"
                     /db_xref="GeneID:7511"
                     /db_xref="HGNC:HGNC:12822"
                     /db_xref="MIM:602443"
     exon            1..110
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..2079
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /EC_number="3.4.11.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aminoacylproline aminopeptidase; Xaa-Pro aminopeptidase 1;
                     aminopeptidase P, cytosolic; X-Pro aminopeptidase 1;
                     soluble aminopeptidase P; cytosolic aminopeptidase P;
                     X-prolyl aminopeptidase 1, soluble; X-prolyl
                     aminopeptidase (aminopeptidase P) 1, soluble"
                     /codon_start=1
                     /product="xaa-Pro aminopeptidase 1 isoform 1"
                     /protein_id="NP_065116.3"
                     /db_xref="CCDS:CCDS7560.2"
                     /db_xref="GeneID:7511"
                     /db_xref="HGNC:HGNC:12822"
                     /db_xref="MIM:602443"
                     /translation="MAASRKPPRVRVNHQDFQLRNLRIIEPNEVTHSGDTGVETDGRM
                     PPKVTSELLRQLRQAMRNSEYVTEPIQAYIIPSGDAHQSEYIAPCDCRRAFVSGFDGS
                     AGTAIITEEHAAMWTDGRYFLQAAKQMDSNWTLMKMGLKDTPTQEDWLVSVLPEGSRV
                     GVDPLIIPTDYWKKMAKVLRSAGHHLIPVKENLVDKIWTDRPERPCKPLLTLGLDYTG
                     ISWKDKVADLRLKMAERNVMWFVVTALDEIAWLFNLRGSDVEHNPVFFSYAIIGLETI
                     MLFIDGDRIDAPSVKEHLLLDLGLEAEYRIQVHPYKSILSELKALCADLSPREKVWVS
                     DKASYAVSETIPKDHRCCMPYTPICIAKAVKNSAESEGMRRAHIKDAVALCELFNWLE
                     KEVPKGGVTEISAADKAEEFRRQQADFVDLSFPTISSTGPNGAIIHYAPVPETNRTLS
                     LDEVYLIDSGAQYKDGTTDVTRTMHFGTPTAYEKECFTYVLKGHIAVSAAVFPTGTKG
                     HLLDSFARSALWDSGLDYLHGTGHGVGSFLNVHEGPCGISYKTFSDEPLEAGMIVTDE
                     PGYYEDGAFGIRIENVVLVVPVKTKYNFNNRGSLTFEPLTLVPIQTKMIDVDSLTDKE
                     CDWLNNYHLTCRDVIGKELQKQGRQEALEWLIRETQPISKQH"
     exon            111..199
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            200..324
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            325..388
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            389..493
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            494..586
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..730
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            731..826
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            827..908
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1119
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1209
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1260
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1319
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1397
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1469
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1530
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1600
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1774
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..1851
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1950
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2497
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2477..2482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /note="hexamer: AATAAA"
     polyA_site      2497
                     /gene="XPNPEP1"
                     /gene_synonym="APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1"
                     /note="major polyA site"
ORIGIN      
        1 ctccttcgcg ccggcccttc cgcgggtgat cagctggtct gcgctcccct gacgtgggct
       61 ggggcacgtc accgccgaat ggcagcctcc agaaagccac cgcgagtaag ggtgaatcac
      121 caggattttc aactgagaaa tttaagaata attgaaccta acgaggtgac acactcagga
      181 gacacaggtg tggaaacaga cggcagaatg cctccaaagg tgacttcaga gctgcttcgg
      241 cagctgagac aagccatgag gaactctgag tatgtgaccg aaccgatcca ggcctacatc
      301 atcccatcgg gagatgctca tcagagtgag tatattgctc catgtgactg tcggcgggct
      361 tttgtctctg gattcgatgg ctctgcgggc acagccatca tcacagaaga gcatgcagcc
      421 atgtggactg acgggcgcta ctttctccag gctgccaagc aaatggacag caactggaca
      481 cttatgaaga tgggtctgaa ggacacacca actcaggaag actggctggt gagtgtgctt
      541 cctgaaggat ccagggttgg tgtggacccc ttgatcattc ctacagatta ttggaagaaa
      601 atggccaaag ttctgagaag tgccggccat cacctcattc ctgtcaagga gaacctcgtt
      661 gacaaaatct ggacagaccg tcctgagcgc ccttgcaagc ctctcctcac actgggcctg
      721 gattacacag gcatctcctg gaaggacaag gttgcagacc ttcggttgaa aatggctgag
      781 aggaacgtca tgtggtttgt ggtcactgcc ttggatgaga ttgcgtggct atttaatctc
      841 cgaggatcag atgtggagca caatccagta tttttctcct acgcaatcat aggactagag
      901 acgatcatgc tcttcattga tggtgaccgc atagacgccc ccagtgtgaa ggagcacctg
      961 cttcttgact tgggtctgga agccgaatac aggatccagg tgcatcccta caagtccatc
     1021 ctgagcgagc tcaaggccct gtgtgctgac ctctccccaa gggagaaggt gtgggtcagt
     1081 gacaaggcca gctatgctgt gagcgagacc atccccaagg accaccgctg ctgtatgcct
     1141 tacaccccca tctgcatcgc caaagctgtg aagaattcag ctgagtcaga aggcatgagg
     1201 cgggctcaca ttaaagatgc tgttgctctc tgtgaactct ttaactggct ggagaaagag
     1261 gttcccaaag gtggtgtgac agagatctca gctgctgaca aagctgagga gtttcgcagg
     1321 caacaggcag actttgtgga cctgagcttc ccaacaattt ccagtacggg acccaacggc
     1381 gccatcattc actacgcgcc agtccctgag acgaatagga ccttgtccct ggatgaggtg
     1441 taccttattg actcgggtgc tcaatacaag gatggcacca cagatgtgac gcggacaatg
     1501 cattttggga cccctacagc ctacgagaag gaatgcttca catatgtcct caagggccac
     1561 atagctgtga gtgcagccgt tttcccgact ggaaccaaag gtcaccttct tgactccttt
     1621 gcccgttcag ctttatggga ttcaggccta gattacttgc acgggactgg acatggtgtt
     1681 gggtcttttt tgaatgtcca tgagggtcct tgcggcatca gttacaaaac attctctgat
     1741 gagcccttgg aggcaggcat gattgtcact gatgagcccg ggtactatga agatggggct
     1801 tttggaattc gcattgagaa tgttgtcctt gtggttcctg tgaagaccaa gtataatttt
     1861 aataaccggg gaagcctgac ctttgaacct ctaacattgg ttccaattca gaccaaaatg
     1921 atagatgtgg attctcttac agacaaagag tgcgactggc tcaacaatta ccacctgacc
     1981 tgcagggatg tgattgggaa ggaattgcag aaacagggcc gccaggaagc tctcgagtgg
     2041 ctcatcagag agacgcaacc catctccaaa cagcattaat aaatacctcc ccggttttgt
     2101 ttttgtaaaa tgctctggag gaaggaagaa acgtggcaga tccctgacat ctttcccctt
     2161 tcctttcctt cttccctacc tccccttttt actttagact ttaagaagaa cagaaaatct
     2221 tcttatcctc tttgatattt tattgcaaac actcagtctt ttatgatttt ttaattgttg
     2281 agaacaagcc aagaataaaa ttgctgcacc agaaggaggg tccctccaaa gttgaacact
     2341 tggtgaaagg aagatgcccc gacttctttg gccagtgatg gggaatcagt gagtgctcca
     2401 tgatggtcat gttccaggtg ctagtacatc attcatgatc accttaatgc tcatgagact
     2461 atatttatga tcagtgaata aaaatgtcag aactgtg
//
