LOCUS       NM_002777                987 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens proteinase 3 (PRTN3), mRNA.
ACCESSION   NM_002777
VERSION     NM_002777.4
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 987)
  AUTHORS   Wang,L., Zhou,Z., Xu,X., Li,Y., Zhang,R., Yu,Z., Huang,X., Zang,S.
            and Sun,T.
  TITLE     Elevated first-trimester neutrophil elastase and proteinase 3
            increase the risk of gestational diabetes mellitus and adverse
            fetal outcomes
  JOURNAL   Reprod Biol Endocrinol 22 (1), 2 (2024)
   PUBMED   38167145
  REMARK    GeneRIF: Elevated first-trimester neutrophil elastase and
            proteinase 3 increase the risk of gestational diabetes mellitus and
            adverse fetal outcomes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 987)
  AUTHORS   Kawataka,M., Ouhara,K., Kobayashi,E., Shinoda,K., Tobe,K.,
            Fujimori,R., Mizuno,N., Sugiyama,E., Ozawa,T. and Kishi,H.
  TITLE     N-glycan in the variable region of monoclonal ACPA (CCP-Ab1)
            promotes the exacerbation of experimental arthritis
  JOURNAL   Rheumatology (Oxford) 62 (12), 3968-3977 (2023)
   PUBMED   36944270
  REMARK    GeneRIF: N-glycan in the variable region of monoclonal ACPA
            (CCP-Ab1) promotes the exacerbation of experimental arthritis.
REFERENCE   3  (bases 1 to 987)
  AUTHORS   Sharma,R.K., Yoosuf,N., Afonso,M., Scheffschick,A., Avik,A.,
            Bartoletti,A., Horuluoglu,B., Diaz Boada,J.S., Boddul,S.K.,
            Jonasdottir,A.D., Lovstrom,B., Brauner,H., Raposo,B., Chemin,K.,
            Bruchfeld,A., Gunnarsson,I. and Malmstrom,V.
  TITLE     Identification of proteinase 3 autoreactive CD4+T cells and their
            T-cell receptor repertoires in antineutrophil cytoplasmic
            antibody-associated vasculitis
  JOURNAL   Kidney Int 103 (5), 973-985 (2023)
   PUBMED   36804380
  REMARK    GeneRIF: Identification of proteinase 3 autoreactive CD4[+]T cells
            and their T-cell receptor repertoires in antineutrophil cytoplasmic
            antibody-associated vasculitis.
REFERENCE   4  (bases 1 to 987)
  AUTHORS   Guo,D., Zhang,B., Wu,D., Hu,X. and Tu,H.
  TITLE     Identification of PRTN3 as a novel biomarker for the diagnosis of
            early gastric cance
  JOURNAL   J Proteomics 277, 104852 (2023)
   PUBMED   36804624
  REMARK    GeneRIF: Identification of PRTN3 as a novel biomarker for the
            diagnosis of early gastric cance.
REFERENCE   5  (bases 1 to 987)
  AUTHORS   Casal Moura,M., Deng,Z., Brooks,S.R., Tew,W., Fervenza,F.C.,
            Kallenberg,C.G.M., Langford,C.A., Merkel,P.A., Monach,P.A., Seo,P.,
            Spiera,R.F., St Clair,E.W., Stone,J.H., Prunotto,M., Grayson,P.C.
            and Specks,U.
  TITLE     Risk of relapse of ANCA-associated vasculitis among patients
            homozygous for the proteinase 3 gene Val119Ile polymorphism
  JOURNAL   RMD Open 9 (1) (2023)
   PUBMED   36990659
  REMARK    GeneRIF: Risk of relapse of ANCA-associated vasculitis among
            patients homozygous for the proteinase 3 gene Val119Ile
            polymorphism.
REFERENCE   6  (bases 1 to 987)
  AUTHORS   Sturrock,A.B., Franklin,K.F., Rao,G., Marshall,B.C.,
            Rebentisch,M.B., Lemons,R.S. and Hoidal,J.R.
  TITLE     Structure, chromosomal assignment, and expression of the gene for
            proteinase-3. The Wegener's granulomatosis autoantigen
  JOURNAL   J Biol Chem 267 (29), 21193-21199 (1992)
   PUBMED   1400430
REFERENCE   7  (bases 1 to 987)
  AUTHORS   Zimmer,M., Medcalf,R.L., Fink,T.M., Mattmann,C., Lichter,P. and
            Jenne,D.E.
  TITLE     Three human elastase-like genes coordinately expressed in the
            myelomonocyte lineage are organized as a single genetic locus on
            19pter
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8215-8219 (1992)
   PUBMED   1518849
REFERENCE   8  (bases 1 to 987)
  AUTHORS   Labbaye,C., Musette,P. and Cayre,Y.E.
  TITLE     Wegener autoantigen and myeloblastin are encoded by a single mRNA
  JOURNAL   Proc Natl Acad Sci U S A 88 (20), 9253-9256 (1991)
   PUBMED   1681549
REFERENCE   9  (bases 1 to 987)
  AUTHORS   Musette,P., Labbaye,C., Dorner,M.H., Cayre,Y.E., Casanova,J.L. and
            Kourilsky,P.
  TITLE     Wegener's autoantigen and leukemia
  JOURNAL   Blood 77 (6), 1398-1399 (1991)
   PUBMED   2001463
REFERENCE   10 (bases 1 to 987)
  AUTHORS   Ludemann,J., Utecht,B. and Gross,W.L.
  TITLE     Anti-neutrophil cytoplasm antibodies in Wegener's granulomatosis
            recognize an elastinolytic enzyme
  JOURNAL   J Exp Med 171 (1), 357-362 (1990)
   PUBMED   1688612
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            M75154.1, BC096185.3 and AC004799.2.
            
            On Nov 23, 2018 this sequence version replaced NM_002777.3.
            
            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 :: X55668.1, M75154.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234347.10/ ENSP00000234347.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-217               M75154.1           39-255
            218-835             BC096185.3         243-860
            836-863             M75154.1           874-901
            864-987             AC004799.2         28824-28947
FEATURES             Location/Qualifiers
     source          1..987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..987
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /note="proteinase 3"
                     /db_xref="GeneID:5657"
                     /db_xref="HGNC:HGNC:9495"
                     /db_xref="MIM:177020"
     exon            1..71
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..781
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /EC_number="3.4.21.76"
                     /note="serine proteinase, neutrophil; Wegener
                     granulomatosis autoantigen; leukocyte proteinase 3;
                     azurophil granule protein 7; myeloblastin; C-ANCA antigen;
                     wegener autoantigen; neutrophil proteinase 4"
                     /codon_start=1
                     /product="myeloblastin precursor"
                     /protein_id="NP_002768.3"
                     /db_xref="CCDS:CCDS32860.1"
                     /db_xref="GeneID:5657"
                     /db_xref="HGNC:HGNC:9495"
                     /db_xref="MIM:177020"
                     /translation="MAHRPPSPALASVLLALLLSGAARAAEIVGGHEAQPHSRPYMAS
                     LQMRGNPGSHFCGGTLIHPSFVLTAAHCLRDIPQRLVNVVLGAHNVRTQEPTQQHFSV
                     AQVFLNNYDAENKLNDVLLIQLSSPANLSASVATVQLPQQDQPVPHGTQCLAMGWGRV
                     GAHDPPAQVLQELNVTVVTFFCRPHNICTFVPRRKAGICFGDSGGPLICDGIIQGIDS
                     FVIWGCATRLFPDFFTRVALYVDWIRSTLRRVEAKGRP"
     exon            72..237
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /inference="alignment:Splign:2.1.0"
     exon            238..379
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /inference="alignment:Splign:2.1.0"
     exon            380..610
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /inference="alignment:Splign:2.1.0"
     exon            611..987
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      970..975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /note="hexamer: AATAAA"
     polyA_site      987
                     /gene="PRTN3"
                     /gene_synonym="ACPA; AGP7; C-ANCA; CANCA; MBN; MBT; NP-4;
                     NP4; P29; PR-3; PR3"
                     /note="major polyA site"
ORIGIN      
        1 ggaccccacc atggctcacc ggccccccag ccctgccctg gcgtccgtgc tgctggcctt
       61 gctgctgagc ggtgctgccc gagctgcgga gatcgtgggc gggcacgagg cgcagccaca
      121 ctcccggccc tacatggcct ccctgcagat gcgggggaac ccgggcagcc acttctgcgg
      181 aggcaccttg atccacccca gcttcgtgct gacggccgcg cactgcctgc gggacatacc
      241 ccagcgcctg gtgaacgtgg tgctcggagc ccacaacgtg cggacgcagg agcccaccca
      301 gcagcacttc tcggtggctc aggtgtttct gaacaactac gacgcggaga acaaactgaa
      361 cgacgttctc ctcatccagc tgagcagccc agccaacctc agtgcctccg tcgccacagt
      421 ccagctgcca cagcaggacc agccagtgcc ccacggcacc cagtgcctgg ccatgggctg
      481 gggccgcgtg ggtgcccacg accccccagc ccaggtcctg caggagctca atgtcaccgt
      541 ggtcaccttc ttctgccggc cacataacat ttgcactttc gtccctcgcc gcaaggccgg
      601 catctgcttc ggagactcag gtggccccct gatctgtgat ggcatcatcc aaggaataga
      661 ctccttcgtg atctggggat gtgccacccg ccttttccct gacttcttca cgcgggtagc
      721 cctctacgtg gactggatcc gttccacgct gcgccgtgtg gaggccaagg gccgcccctg
      781 aaccgcccct cccacagcgc tggccgggac cccgagcctg gctccaaacc ctcgaggcgg
      841 atctttggac agaagcagct cttccccgaa cactgtggcg tccgggacgg ccccacccgt
      901 ccccccacac tccctcccac ggggctccgg gagacaggcc ggccctgcac ctcaccccac
      961 cgtgacctca ataaacgttg aaactcc
//
