LOCUS       NM_003399               3311 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens X-prolyl aminopeptidase 2 (XPNPEP2), mRNA.
ACCESSION   NM_003399
VERSION     NM_003399.6
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 3311)
  AUTHORS   Li,F., Dai,Y., Xu,H., Huang,K., Zhou,Y., Luo,D., Ma,D., Xi,L.,
            Lv,M. and Ma,X.
  TITLE     XPNPEP2 is associated with lymph node metastasis in prostate cancer
            patients
  JOURNAL   Sci Rep 9 (1), 10078 (2019)
   PUBMED   31296901
  REMARK    GeneRIF: XPNPEP2 is associated with lymph node metastasis in
            prostate cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3311)
  AUTHORS   Cheng,T., Wei,R., Jiang,G., Zhou,Y., Lv,M., Dai,Y., Yuan,Y.,
            Luo,D., Ma,D., Li,F. and Xi,L.
  TITLE     XPNPEP2 is overexpressed in cervical cancer and promotes cervical
            cancer metastasis
  JOURNAL   Tumour Biol 39 (7), 1010428317717122 (2017)
   PUBMED   28670957
  REMARK    GeneRIF: we demonstrated that XPNPEP2 had significant effects on
            the metastasis of xenografted tumors in vivo. Collectively, our
            findings identify the novel function of XPNPEP2 in the metastasis
            of cervical cancer and suggest that XPNPEP2 could be a novel
            potential therapeutic target for the treatment of cervical cancer
REFERENCE   3  (bases 1 to 3311)
  AUTHORS   Pinero-Saavedra,M., Gonzalez-Quevedo,T., Saenz de San Pedro,B.,
            Alcaraz,C., Bobadilla-Gonzalez,P., Fernandez-Vieira,L., Hinojosa,B.
            and Garcia-Lozano,R.
  TITLE     Hereditary angioedema with F12 mutation: Clinical features and
            enzyme polymorphisms in 9 Southwestern Spanish families
  JOURNAL   Ann Allergy Asthma Immunol 117 (5), 520-526 (2016)
   PUBMED   27788882
  REMARK    GeneRIF: The XPNPEP2 c-2399A and the ACE insertion/deletion
            polymorphisms analyzed in a population of patients with hereditary
            angioedema with F12 mutation were not a major determinant of
            disease expression.
REFERENCE   4  (bases 1 to 3311)
  AUTHORS   Hui,Y., Wu,Y. and Tormey,C.A.
  TITLE     The development of a novel molecular assay examining the role of
            aminopeptidase P polymorphisms in acute hypotensive transfusion
            reactions
  JOURNAL   Arch Pathol Lab Med 137 (1), 96-99 (2013)
   PUBMED   23276181
  REMARK    GeneRIF: A C-2399A SNP assay was applied to patients with acute
            hypotensive transfusion reactions. In a pilot study, 2 patients
            (50%) were found to possess C-2399A polymorphisms. One was found to
            be homozygous, and the other was heterozygous.
REFERENCE   5  (bases 1 to 3311)
  AUTHORS   Cilia La Corte,A.L., Carter,A.M., Rice,G.I., Duan,Q.L.,
            Rouleau,G.A., Adam,A., Grant,P.J. and Hooper,N.M.
  TITLE     A functional XPNPEP2 promoter haplotype leads to reduced plasma
            aminopeptidase P and increased risk of ACE inhibitor-induced
            angioedema
  JOURNAL   Hum Mutat 32 (11), 1326-1331 (2011)
   PUBMED   21898657
  REMARK    GeneRIF: the genetic regulation of the XPNPEP2 gene and identify
            the genetic factors contributing to variance in plasma
            aminopeptidase P activity and ACEi-angioedema (XPNPEP2)
REFERENCE   6  (bases 1 to 3311)
  AUTHORS   Prueitt,R.L., Ross,J.L. and Zinn,A.R.
  TITLE     Physical mapping of nine Xq translocation breakpoints and
            identification of XPNPEP2 as a premature ovarian failure candidate
            gene
  JOURNAL   Cytogenet Cell Genet 89 (1-2), 44-50 (2000)
   PUBMED   10894934
REFERENCE   7  (bases 1 to 3311)
  AUTHORS   Cottrell,G.S., Hyde,R.J., Hooper,N.M. and Turner,A.J.
  TITLE     The cloning and functional expression of human pancreatic
            aminopeptidase P
  JOURNAL   Biochem Soc Trans 26 (3), S248 (1998)
   PUBMED   9765967
REFERENCE   8  (bases 1 to 3311)
  AUTHORS   Sprinkle,T.J., Stone,A.A., Venema,R.C., Denslow,N.D., Caldwell,C.
            and Ryan,J.W.
  TITLE     Assignment of the membrane-bound human aminopeptidase P gene
            (XPNPEP2) to chromosome Xq25
  JOURNAL   Genomics 50 (1), 114-116 (1998)
   PUBMED   9628831
REFERENCE   9  (bases 1 to 3311)
  AUTHORS   Venema,R.C., Ju,H., Zou,R., Venema,V.J. and Ryan,J.W.
  TITLE     Cloning and tissue distribution of human membrane-bound
            aminopeptidase P
  JOURNAL   Biochim Biophys Acta 1354 (1), 45-48 (1997)
   PUBMED   9375790
REFERENCE   10 (bases 1 to 3311)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U90724.2, BP270314.1,
            CD617070.1, BX386512.2, BF830085.1, AL023653.1 and BQ224207.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003399.5.
            
            Summary: Aminopeptidase P is a hydrolase specific for N-terminal
            imido bonds, which are common to several collagen degradation
            products, neuropeptides, vasoactive peptides, and cytokines.
            Structurally, the enzyme is a member of the 'pita bread fold'
            family and occurs in mammalian tissues in both soluble and
            GPI-anchored membrane-bound forms.  A membrane-bound and soluble
            form of this enzyme have been identified as products of two
            separate genes. [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 :: BC126174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371106.4/ ENSP00000360147.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                U90724.2           30-77
            49-583              BP270314.1         49-583
            584-681             CD617070.1         18-115              c
            682-687             BX386512.2         690-695
            688-1246            U90724.2           717-1275
            1247-1266           BF830085.1         501-520
            1267-1417           U90724.2           1296-1446
            1418-1422           AL023653.1         69757-69761
            1423-1503           U90724.2           1452-1532
            1504-1507           AL023653.1         70555-70558
            1508-1654           U90724.2           1537-1683
            1655-2365           BQ224207.1         105-815
            2366-3311           AL023653.1         83801-84746
FEATURES             Location/Qualifiers
     source          1..3311
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.1"
     gene            1..3311
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /note="X-prolyl aminopeptidase 2"
                     /db_xref="GeneID:7512"
                     /db_xref="HGNC:HGNC:12823"
                     /db_xref="MIM:300145"
     exon            1..284
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..2260
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /EC_number="3.4.11.9"
                     /note="aminoacylproline aminopeptidase; xaa-Pro
                     aminopeptidase 2; X-prolyl aminopeptidase (aminopeptidase
                     P) 2, membrane-bound; mAmP; membrane-bound APP;
                     membrane-bound AmP; X-Pro aminopeptidase 2; membrane-bound
                     aminopeptidase P"
                     /codon_start=1
                     /product="xaa-Pro aminopeptidase 2 precursor"
                     /protein_id="NP_003390.4"
                     /db_xref="CCDS:CCDS14613.1"
                     /db_xref="GeneID:7512"
                     /db_xref="HGNC:HGNC:12823"
                     /db_xref="MIM:300145"
                     /translation="MARAHWGCCPWLVLLCACAWGHTKPVDLGGQDVRNCSTNPPYLP
                     VTVVNTTMSLTALRQQMQTQNLSAYIIPGTDAHMNEYIGQHDERRAWITGFTGSAGTA
                     VVTMKKAAVWTDSRYWTQAERQMDCNWELHKEVGTTPIVTWLLTEIPAGGRVGFDPFL
                     LSIDTWESYDLALQGSNRQLVSITTNLVDLVWGSERPPVPNQPIYALQEAFTGSTWQE
                     KVSGVRSQMQKHQKVPTAVLLSALEETAWLFNLRASDIPYNPFFYSYTLLTDSSIRLF
                     ANKSRFSSETLSYLNSSCTGPMCVQIEDYSQVRDSIQAYSLGDVRIWIGTSYTMYGIY
                     EMIPKEKLVTDTYSPVMMTKAVKNSKEQALLKASHVRDAVAVIRYLVWLEKNVPKGTV
                     DEFSGAEIVDKFRGEEQFSSGPSFETISASGLNAALAHYSPTKELNRKLSSDEMYLLD
                     SGGQYWDGTTDITRTVHWGTPSAFQKEAYTRVLIGNIDLSRLIFPAATSGRMVEAFAR
                     RALWDAGLNYGHGTGHGIGNFLCVHEWPVGFQSNNIAMAKGMFTSIEPGYYKDGEFGI
                     RLEDVALVVEAKTKYPGSYLTFEVVSFVPYDRNLIDVSLLSPEHLQYLNRYYQTIREK
                     VGPELQRRQLLEEFEWLQQHTEPLAARAPDTASWASVLVVSTLAILGWSV"
     exon            285..358
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            359..469
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            470..533
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            534..638
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            639..725
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            726..872
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            873..974
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1056
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1252
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1342
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1452
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1530
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1602
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1663
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1733
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1838
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..1898
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..1975
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2065
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..3311
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3311
                     /gene="XPNPEP2"
                     /gene_synonym="AEACEI; APP2"
                     /note="major polyA site"
ORIGIN      
        1 acagtccgcc tcgggcagcc caaagctcct ctgcccaccc tggctcccag agccctccaa
       61 aacaaaagac cagagaagca ctctccaccc agcagccaga cgcctccttc ttgacgccag
      121 cccccaccct ctgtctgctc gagcccagga aaggcctgaa ggaagaggcc ggggaaagag
      181 ccctccctct ctcccttgtc cctccatcca cccagcgccg gcatctggag accctatggc
      241 ccgggctcac tggggctgct gcccctggct ggtcctcctc tgtgcttgtg cctggggcca
      301 cacaaagcca gtggaccttg gagggcagga tgtgagaaac tgttccacca acccccctta
      361 ccttccagtt actgtggtca ataccacaat gtcactcaca gccctccgcc agcagatgca
      421 gacccagaat ctctcagcct acatcatccc aggcacagat gctcacatga acgagtacat
      481 cggccaacat gacgagaggc gtgcgtggat tacaggcttt acagggtctg caggaactgc
      541 agtggtgact atgaagaaag cagctgtctg gaccgacagt cgctactgga ctcaggctga
      601 gcggcagatg gactgcaact gggagctcca taaggaagtt ggcaccactc ctattgtcac
      661 ctggctcctc accgagattc ctgctggagg gcgtgtgggt tttgacccct tcctcttgtc
      721 cattgacacc tgggagagtt atgatctggc cctccaaggc tctaacagac agctggtgtc
      781 catcacaacc aatcttgtgg acctggtatg gggatcagag aggccaccgg ttccaaatca
      841 acccatttat gccctgcagg aggcattcac agggagcact tggcaggaga aagtatctgg
      901 cgtccgaagc cagatgcaga agcatcaaaa ggtcccgact gccgtccttc tgtcggcgct
      961 tgaggagacg gcctggctct tcaaccttcg agccagtgac atcccctata accccttctt
     1021 ctattcctac acgctgctca cagactcttc tattaggttg tttgcaaaca agagtcgctt
     1081 tagctccgaa accttgagct atctgaactc cagttgcaca ggccccatgt gtgtgcaaat
     1141 cgaggattac agccaagttc gtgacagcat ccaggcctac tcattgggag atgtgaggat
     1201 ctggattggg accagctata ccatgtatgg gatctatgaa atgataccca aggagaaact
     1261 cgtgacagac acctactccc cagtgatgat gaccaaggca gtgaagaaca gcaaggagca
     1321 ggccctcctc aaggccagcc acgtgcggga cgctgtggct gtgatccggt acttggtctg
     1381 gctggagaag aacgtgccca aaggcacagt ggatgagttc tcgggggcag agatcgtgga
     1441 caagttccga ggagaagaac agttctcctc cggacccagt tttgaaacca tctctgctag
     1501 tggtctgaat gctgccctgg cccactacag cccgaccaag gagctgaacc gcaagctgtc
     1561 ctcagatgag atgtacctgc tggactctgg ggggcagtac tgggacggga ccacagacat
     1621 caccagaaca gtccactggg gcaccccctc tgccttccag aaggaggcat acacccgtgt
     1681 gctgatagga aatattgacc tgtccaggct catctttccc gctgctacat cagggcgaat
     1741 ggtggaggcc tttgcccgca gagccttgtg ggatgctggt ctcaattatg gtcatgggac
     1801 aggccacggc attggcaact tcctgtgtgt gcatgagtgg ccagtgggat tccagtccaa
     1861 caacatcgct atggccaagg gcatgttcac ttccattgaa cctggttact ataaggatgg
     1921 agaatttggg atccgtctcg aagatgtggc tctcgtggta gaagcaaaga ccaagtaccc
     1981 agggagctac ctgacctttg aagtggtatc atttgtgccc tatgaccgga acctcatcga
     2041 tgtcagcctg ctgtctcccg agcatctcca gtacctgaat cgctactacc agaccatccg
     2101 ggagaaggtg ggtccagagc tgcagaggcg ccagctacta gaggagttcg agtggcttca
     2161 acagcacaca gagcccctgg ccgccagggc cccagacacc gcctcctggg cctctgtgtt
     2221 agtggtctcc acccttgcca tccttggctg gagtgtctag aggctccaga ctctcctgtt
     2281 aaccctccat ctagatgggg ggctcccttg cttagctccc ctcaccctgc actgaacata
     2341 ccccaagagc ccctgctggc ccattgccta gaaacctttg cattcatcct ccttctccaa
     2401 gacctatgga gaaggtccca ggccccagga acacagggct tcttggcccc agatggcacc
     2461 tccctgcacc ccggggttgt ataccacacc ctgggcccct aatcccaggc cccgagatag
     2521 gaaagccagc tagtctcttc tcttctgtga tctcagtagg cctaacctat aacctagcac
     2581 agactgctac agctgctccc ctcccgccaa acaaaacccc aagagagcaa tgcccctacc
     2641 acccaagggt gccatggtcc cgggagagcc caaacctatc accacctgtt gggcatagcc
     2701 agagctgttc ccacccagcc agggcatgaa acatcaaccc cccacatgtg aacccatcat
     2761 tcctaaaccc tgggtaggct ccatgccaag taacagcaga gggagttaag ccataggaat
     2821 ttggctgtgg agtaagaggg aatgcggtga ggcactctgg aatatgaccc taccagaggt
     2881 tggagaacaa acttgggcag ccggaacccg tcactattct agacttccct ggcattcgag
     2941 gagccctttg aactttccaa agtgcagcca cagctacaat gctgttaaat cctcccacat
     3001 tcttggatgc cccttcacct tgtgtggaca gtgtctggtt tctccatttt acagacagga
     3061 aaactgagct tcagacaggg ggtgggcttt gcctaaggac acacaaattt ggttgggagt
     3121 tgatggggcc agatgagcca gcattccagc tctttcaccc ttcagcaaca tgcagagtcc
     3181 ctgagcccac ctcccagccc tctcctcatt ctctgaaccc actgtggtga gaagaatttg
     3241 ctccggccaa attggccgtt agccacctgg gtccacatcc tgctaagacg tttaaaacag
     3301 cctaacaaag a
//
