LOCUS       NM_001972                909 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.
ACCESSION   NM_001972
VERSION     NM_001972.4
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 909)
  AUTHORS   Birk,D., Siepmann,E., Simon,S. and Sommerhoff,C.P.
  TITLE     Human Neutrophil Elastase: Characterization of Intra- vs.
            Extracellular Inhibition
  JOURNAL   Int J Mol Sci 25 (14), 7917 (2024)
   PUBMED   39063160
  REMARK    GeneRIF: Human Neutrophil Elastase: Characterization of Intra- vs.
            Extracellular Inhibition.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 909)
  AUTHORS   Fragoso,J.M., Vargas-Alarcon,G., Martinez-Flores,A.E.,
            Montufar-Robles,I., Barbosa-Cobos,R.E., Rojas-Velasco,G. and
            Ramirez-Bello,J.
  TITLE     ELANE rs17223045C/T and rs3761007G/A variants: Protective factors
            against COVID-19
  JOURNAL   Biomol Biomed 24 (3), 665-672 (2024)
   PUBMED   38226800
  REMARK    GeneRIF: ELANE rs17223045C/T and rs3761007G/A variants: Protective
            factors against COVID-19.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 909)
  AUTHORS   Zheng,S., Bulut,G.B., Kummarapurugu,A.B., Ma,J. and Voynow,J.A.
  TITLE     Neutrophil Elastase Degrades Histone Deacetylases and Sirtuin 1 in
            Primary Human Monocyte Derived Macrophages
  JOURNAL   Int J Mol Sci 25 (8), 4265 (2024)
   PUBMED   38673851
  REMARK    GeneRIF: Neutrophil Elastase Degrades Histone Deacetylases and
            Sirtuin 1 in Primary Human Monocyte Derived Macrophages.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 909)
  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   5  (bases 1 to 909)
  AUTHORS   Horwitz,M.S., Corey,S.J., Grimes,H.L. and Tidwell,T.
  TITLE     ELANE mutations in cyclic and severe congenital neutropenia:
            genetics and pathophysiology
  JOURNAL   Hematol Oncol Clin North Am 27 (1), 19-41 (2013)
   PUBMED   23351986
  REMARK    GeneRIF: A review discusses how ELANE mutations provide clues into
            the pathogenesis of cyclic and severe congenital neutropenia.
            Review article
REFERENCE   6  (bases 1 to 909)
  AUTHORS   Dale,D.C. and Makaryan,V.
  TITLE     ELANE-Related Neutropenia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301705
REFERENCE   7  (bases 1 to 909)
  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 909)
  AUTHORS   Higuchi,D.A., Wun,T.C., Likert,K.M. and Broze,G.J. Jr.
  TITLE     The effect of leukocyte elastase on tissue factor pathway inhibitor
  JOURNAL   Blood 79 (7), 1712-1719 (1992)
   PUBMED   1558967
REFERENCE   9  (bases 1 to 909)
  AUTHORS   Aoki,Y. and Hase,T.
  TITLE     The primary structure and elastinolytic activity of medullasin (a
            serine protease of bone marrow)
  JOURNAL   Biochem Biophys Res Commun 178 (2), 501-506 (1991)
   PUBMED   1859409
REFERENCE   10 (bases 1 to 909)
  AUTHORS   Fletcher,T.S., Shen,W.F. and Largman,C.
  TITLE     Primary structure of human pancreatic elastase 2 determined by
            sequence analysis of the cloned mRNA
  JOURNAL   Biochemistry 26 (23), 7256-7261 (1987)
   PUBMED   3427074
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M34379.1 and BI254663.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001972.3.
            
            Summary: Elastases form a subfamily of serine proteases that
            hydrolyze many proteins in addition to elastin. Humans have six
            elastase genes which encode structurally similar proteins. The
            encoded preproprotein is proteolytically processed to generate the
            active protease. Following activation, this protease hydrolyzes
            proteins within specialized neutrophil lysosomes, called azurophil
            granules, as well as proteins of the extracellular matrix. The
            enzyme may play a role in degenerative and inflammatory diseases
            through proteolysis of collagen-IV and elastin. This protein also
            degrades the outer membrane protein A (OmpA) of E. coli as well as
            the virulence factors of such bacteria as Shigella, Salmonella and
            Yersinia. Mutations in this gene are associated with cyclic
            neutropenia and severe congenital neutropenia (SCN). This gene is
            present in a gene cluster on chromosome 19. [provided by RefSeq,
            Jan 2016].
            
            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 :: M34379.1, X05875.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263621.2/ ENSP00000263621.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-908               M34379.1           13-920
            909-909             BI254663.1         154-154
FEATURES             Location/Qualifiers
     source          1..909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..909
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /note="elastase, neutrophil expressed"
                     /db_xref="GeneID:1991"
                     /db_xref="HGNC:HGNC:3309"
                     /db_xref="MIM:130130"
     exon            1..93
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..830
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /EC_number="3.4.21.37"
                     /note="medullasin; elastase 2, neutrophil; bone marrow
                     serine protease; leukocyte elastase; polymorphonuclear
                     elastase; granulocyte-derived elastase; elastase-2; PMN
                     elastase; polymorphonuclear leukocyte elastase"
                     /codon_start=1
                     /product="neutrophil elastase preproprotein"
                     /protein_id="NP_001963.1"
                     /db_xref="CCDS:CCDS12045.1"
                     /db_xref="GeneID:1991"
                     /db_xref="HGNC:HGNC:3309"
                     /db_xref="MIM:130130"
                     /translation="MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFM
                     VSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQ
                     RIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG
                     RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASF
                     VRGGCASGLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH"
     exon            94..250
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /inference="alignment:Splign:2.1.0"
     exon            251..392
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /inference="alignment:Splign:2.1.0"
     exon            393..623
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /inference="alignment:Splign:2.1.0"
     exon            624..909
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      888..893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /note="hexamer: AATAAA"
     polyA_site      909
                     /gene="ELANE"
                     /gene_synonym="ELA2; GE; HLE; HNE; NE; PMN-E; SCN1"
                     /note="major polyA site"
ORIGIN      
        1 agagaccccg gagccccagc cccaccatga ccctcggccg ccgactcgcg tgtcttttcc
       61 tcgcctgtgt cctgccggcc ttgctgctgg ggggcaccgc gctggcctcg gagattgtgg
      121 ggggccggcg agcgcggccc cacgcgtggc ccttcatggt gtccctgcag ctgcgcggag
      181 gccacttctg cggcgccacc ctgattgcgc ccaacttcgt catgtcggcc gcgcactgcg
      241 tggcgaatgt aaacgtccgc gcggtgcggg tggtcctggg agcccataac ctctcgcggc
      301 gggagcccac ccggcaggtg ttcgccgtgc agcgcatctt cgaaaacggc tacgaccccg
      361 taaacttgct caacgacatc gtgattctcc agctcaacgg gtcggccacc atcaacgcca
      421 acgtgcaggt ggcccagctg ccggctcagg gacgccgcct gggcaacggg gtgcagtgcc
      481 tggccatggg ctggggcctt ctgggcagga accgtgggat cgccagcgtc ctgcaggagc
      541 tcaacgtgac ggtggtgacg tccctctgcc gtcgcagcaa cgtctgcact ctcgtgaggg
      601 gccggcaggc cggcgtctgt ttcggggact ccggcagccc cttggtctgc aacgggctaa
      661 tccacggaat tgcctccttc gtccggggag gctgcgcctc agggctctac cccgatgcct
      721 ttgccccggt ggcacagttt gtaaactgga tcgactctat catccaacgc tccgaggaca
      781 acccctgtcc ccacccccgg gacccggacc cggccagcag gacccactga gaagggctgc
      841 ccgggtcacc tcagctgccc acacccacac tctccagcat ctggcacaat aaacattctc
      901 tgttttgta
//
