LOCUS       NM_030666               2476 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens serpin family B member 1 (SERPINB1), transcript
            variant 1, mRNA.
ACCESSION   NM_030666
VERSION     NM_030666.4
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 2476)
  AUTHORS   Schaid,T.R. Jr., LaCroix,I., Hansen,K.C., D'Alessandro,A.,
            Moore,E.E., Sauaia,A., Dzieciatkowska,M., DeBot,M., Cralley,A.L.,
            Thielen,O., Hallas,W., Erickson,C., Mitra,S., Banerjee,A.,
            Jones,K., Silliman,C.C. and Cohen,M.J.
  TITLE     A proteomic analysis of NETosis in trauma: Emergence of serpinB1 as
            a key player
  JOURNAL   J Trauma Acute Care Surg 94 (3), 361-370 (2023)
   PUBMED   36730076
  REMARK    GeneRIF: A proteomic analysis of NETosis in trauma: Emergence of
            serpinB1 as a key player.
REFERENCE   2  (bases 1 to 2476)
  AUTHORS   Wang,H., Hua,J., Chen,S. and Chen,Y.
  TITLE     SERPINB1 overexpression protects myocardial damage induced by acute
            myocardial infarction through AMPK/mTOR pathway
  JOURNAL   BMC Cardiovasc Disord 22 (1), 107 (2022)
   PUBMED   35291946
  REMARK    GeneRIF: SERPINB1 overexpression protects myocardial damage induced
            by acute myocardial infarction through AMPK/mTOR pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2476)
  AUTHORS   Kassem,D.H., Adel,A., Sayed,G.H. and Kamal,M.M.
  TITLE     A Novel SERPINB1 Single-Nucleotide Polymorphism Associated With
            Glycemic Control and beta-Cell Function in Egyptian Type 2 Diabetic
            Patients
  JOURNAL   Front Endocrinol (Lausanne) 11, 450 (2020)
   PUBMED   32903749
  REMARK    GeneRIF: A Novel SERPINB1 Single-Nucleotide Polymorphism Associated
            With Glycemic Control and beta-Cell Function in Egyptian Type 2
            Diabetic Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2476)
  AUTHORS   Das,B., Jain,N. and Mallick,B.
  TITLE     piR-39980 promotes cell proliferation, migration and invasion, and
            inhibits apoptosis via repression of SERPINB1 in human osteosarcoma
  JOURNAL   Biol Cell 112 (3), 73-91 (2020)
   PUBMED   31879982
REFERENCE   5  (bases 1 to 2476)
  AUTHORS   Zeng,W., Silverman,G.A. and Remold-O'Donnell,E.
  TITLE     Structure and sequence of human M/NEI (monocyte/neutrophil elastase
            inhibitor), an Ov-serpin family gene
  JOURNAL   Gene 213 (1-2), 179-187 (1998)
   PUBMED   9630619
REFERENCE   6  (bases 1 to 2476)
  AUTHORS   Sun,J., Stephens,R., Mirza,G., Kanai,H., Ragoussis,J. and Bird,P.I.
  TITLE     A serpin gene cluster on human chromosome 6p25 contains PI6, PI9
            and ELANH2 which have a common structure almost identical to the
            18q21 ovalbumin serpin genes
  JOURNAL   Cytogenet Cell Genet 82 (3-4), 273-277 (1998)
   PUBMED   9858835
REFERENCE   7  (bases 1 to 2476)
  AUTHORS   Packard,B.Z., Lee,S.S., Remold-O'Donnell,E. and Komoriya,A.
  TITLE     A serpin from human tumor cells with direct lymphoid
            immunomodulatory activity: mitogenic stimulation of human
            tumor-infiltrating lymphocytes
  JOURNAL   Biochim Biophys Acta 1269 (1), 41-50 (1995)
   PUBMED   7578269
REFERENCE   8  (bases 1 to 2476)
  AUTHORS   Sugimori,T., Cooley,J., Hoidal,J.R. and Remold-O'Donnell,E.
  TITLE     Inhibitory properties of recombinant human monocyte/neutrophil
            elastase inhibitor
  JOURNAL   Am J Respir Cell Mol Biol 13 (3), 314-322 (1995)
   PUBMED   7654387
REFERENCE   9  (bases 1 to 2476)
  AUTHORS   Evans,E., Cooley,J. and Remold-O'Donnell,E.
  TITLE     Characterization and chromosomal localization of ELANH2, the gene
            encoding human monocyte/neutrophil elastase inhibitor
  JOURNAL   Genomics 28 (2), 235-240 (1995)
   PUBMED   8530031
REFERENCE   10 (bases 1 to 2476)
  AUTHORS   Remold-O'Donnell,E., Chin,J. and Alberts,M.
  TITLE     Sequence and molecular characterization of human
            monocyte/neutrophil elastase inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 89 (12), 5635-5639 (1992)
   PUBMED   1376927
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK309765.1, BC009015.1,
            BM785367.1, BM823453.1 and AW451326.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030666.3.
            
            Summary: The protein encoded by this gene is a member of the serpin
            family of proteinase inhibitors. Members of this family maintain
            homeostasis by neutralizing overexpressed proteinase activity
            through their function as suicide substrates. This protein inhibits
            the neutrophil-derived proteinases neutrophil elastase, cathepsin
            G, and proteinase-3 and thus protects tissues from damage at
            inflammatory sites. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: SRR3476690.321707.1,
                                           SRR3476690.516627.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380739.6/ ENSP00000370115.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AK309765.1         187-202
            17-1302             BC009015.1         1-1286
            1303-1661           BM785367.1         268-626
            1662-2303           BM823453.1         19-660
            2304-2476           AW451326.1         17-189              c
FEATURES             Location/Qualifiers
     source          1..2476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..2476
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="serpin family B member 1"
                     /db_xref="GeneID:1992"
                     /db_xref="HGNC:HGNC:3311"
                     /db_xref="MIM:130135"
     exon            1..52
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     exon            53..228
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1200
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="serine (or cysteine) proteinase inhibitor, clade B
                     (ovalbumin), member 1; serpin peptidase inhibitor, clade B
                     (ovalbumin), member 1; protease inhibitor 2
                     (anti-elastase), monocyte/neutrophil derived; peptidase
                     inhibitor 2; epididymis luminal protein 57; epididymis
                     secretory protein Li 27"
                     /codon_start=1
                     /product="leukocyte elastase inhibitor"
                     /protein_id="NP_109591.1"
                     /db_xref="CCDS:CCDS4477.1"
                     /db_xref="GeneID:1992"
                     /db_xref="HGNC:HGNC:3311"
                     /db_xref="MIM:130135"
                     /translation="MEQLSSANTRFALDLFLALSENNPAGNIFISPFSISSAMAMVFL
                     GTRGNTAAQLSKTFHFNTVEEVHSRFQSLNADINKRGASYILKLANRLYGEKTYNFLP
                     EFLVSTQKTYGADLASVDFQHASEDARKTINQWVKGQTEGKIPELLASGMVDNMTKLV
                     LVNAIYFKGNWKDKFMKEATTNAPFRLNKKDRKTVKMMYQKKKFAYGYIEDLKCRVLE
                     LPYQGEELSMVILLPDDIEDESTGLKKIEEQLTLEKLHEWTKPENLDFIEVNVSLPRF
                     KLEESYTLNSDLARLGVQDLFNSSKADLSGMSGARDIFISKIVHKSFVEVNEEGTEAA
                     AATAGIATFCMLMPEENFTADHPFLFFIRHNSSGSILFLGRFSSP"
     exon            229..366
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     exon            367..484
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     exon            485..627
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     exon            628..795
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     exon            796..2476
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1289..1294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="hexamer: AATAAA"
     polyA_site      1312
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="major polyA site"
     regulatory      1758..1763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="hexamer: ATTAAA"
     polyA_site      1785
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
     regulatory      2448..2453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="hexamer: AATAAA"
     polyA_site      2476
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI;
                     MNEI; PI-2; PI2"
                     /note="major polyA site"
ORIGIN      
        1 cctgacctcg cacccagctc ggagcccgga gcgtgcctcg gcggcctgtc ggttttcacc
       61 atggagcagc tgagctcagc aaacacccgc ttcgccttgg acctgttcct ggcgttgagt
      121 gagaacaatc cggctggaaa catcttcatc tctcccttca gcatttcatc tgctatggcc
      181 atggtttttc tggggaccag aggtaacacg gcagcacagc tgtccaagac tttccatttc
      241 aacacggttg aagaggttca ttcaagattc cagagtctga atgctgatat caacaaacgt
      301 ggagcgtctt atattctgaa acttgctaat agattatatg gagagaaaac ttacaatttc
      361 cttcctgagt tcttggtttc gactcagaaa acatatggtg ctgacctggc cagtgtggat
      421 tttcagcatg cctctgaaga tgcaaggaag accataaacc agtgggtcaa aggacagaca
      481 gaaggaaaaa ttccggaact gttggcttcg ggcatggttg ataacatgac caaacttgtg
      541 ctagtaaatg ccatctattt caagggaaac tggaaggata aattcatgaa agaagccacg
      601 acgaatgcac cattcagatt gaataagaaa gacagaaaaa ctgtgaaaat gatgtatcag
      661 aagaaaaaat ttgcatatgg ctacatcgag gaccttaagt gccgtgtgct ggaactgcct
      721 taccaaggcg aggagctcag catggtcatc ctgctgccgg atgacattga ggacgagtcc
      781 acgggcctga agaagattga ggaacagttg actttggaaa agttgcatga gtggactaaa
      841 cctgagaatc tcgatttcat tgaagttaat gtcagcttgc ccaggttcaa actggaagag
      901 agttacactc tcaactccga cctcgcccgc ctaggtgtgc aggatctctt taacagtagc
      961 aaggctgatc tgtctggcat gtcaggagcc agagatattt ttatatcaaa aattgtccac
     1021 aagtcatttg tggaagtgaa tgaagaggga acagaggcgg cagctgccac agcaggcatc
     1081 gcaactttct gcatgttgat gcccgaagaa aatttcactg ccgaccatcc attccttttc
     1141 tttattcggc ataattcctc aggtagcatc ctattcttgg ggagattttc ttccccttag
     1201 aagaaagaga ctgtagcaat acaaaaatca agcttagtgc tttattacct gagtttttaa
     1261 tagagccaat atgtcttata tctttaccaa taaaaccact gttcagaaac aagtctttca
     1321 ttttctttgt aagtttggct ctgttggctg tttacaccca tgaattttgg catgggtatc
     1381 tatttttctt ttttacattg aaaaaaatcc agtggttgct tttgaatgca tcaagtaaag
     1441 aagaagaaaa gaatacatcc gatgcgtaga ttcttgacca tgtagtaatc tataaaattg
     1501 ctatatcctc ctgatagcca tgggaaaaca tgataagatg gtcatttatt ttgcagttag
     1561 aattttggaa gccacaaaat agacagacac cctgactgtt gaagggaggt ttaaaaacag
     1621 atattcaatt gaaatgtaag agagcacccc aattgagagc ccaggttacg aagacaagct
     1681 tgcctcgcct gacttttctg tcccttgttc tgcaggatta gtattctgtt acagacctct
     1741 agtttttaga ctcttcaatt aaagggccaa tggttataac ctgcattccc ttttttgttc
     1801 ttctttatgt ataatatata gttcatgtgg cgctgcatga aatcaagaag tgggtgtctt
     1861 aggataaaag ataccaagag tctacaaaaa taaccatgta gtaagataaa ctgctgaaca
     1921 aaggttttac tgttagccac cttctcatgt gttttctttt ctctttttct ttttctttct
     1981 ttctttcttt tttttttttt tgagacagag tcttgctctg ttacccaggc tggagtgcag
     2041 tggcacgatc tcagctcacc gcaacctctg cctcctgggt tcaagtgatt ctcttgcttc
     2101 agcctcctga gtagctggga ttataggcat gcaccactag gcctggctaa tttttgtatt
     2161 tttagtagag atggggtttt tccatgttgg ccaggctggt cccgaactcc tgacctcagg
     2221 tgatccgcgc acctcagcct cccaaagtgc tgggattaca ggcatgagct accatgcctg
     2281 gccttctcat gtgttttctg attaaggctc ttgacttcca aggctgtgtg gggagatggg
     2341 gtgggggctc ttggactgat ataaaacttt gtcaaatgta gttctttgaa tggagcttga
     2401 aacgccgcat attcttgctc ccacaaggat agtgggcatc atgaattaat aaaacgtcct
     2461 aggattctgc aagcta
//
