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2019-03-25 14:29:34, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_030666               2678 bp    mRNA    linear   PRI 20-APR-2013
DEFINITION  Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin),
            member 1 (SERPINB1), transcript variant 1, mRNA.
ACCESSION   NM_030666
VERSION     NM_030666.3  GI:401709928
KEYWORDS    RefSeq.
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 2678)
  AUTHORS   Wang,L., Li,Q., Wu,L., Liu,S., Zhang,Y., Yang,X., Zhu,P., Zhang,H.,
            Zhang,K., Lou,J., Liu,P., Tong,L., Sun,F. and Fan,Z.
  TITLE     Identification of SERPINB1 as a physiological inhibitor of human
            granzyme H
  JOURNAL   J. Immunol. 190 (3), 1319-1330 (2013)
   PUBMED   23269243
  REMARK    GeneRIF: Upon reactive center loop cleavage at Phe-343,SERPINB1
            covalently complexes with GzmH. SERPINB1 overexpression suppresses
            GzmH- or LAK cell-mediated cytotoxicity. Crystal structures show
            possible conformational changes in GzmH for the suicide inhibition.
REFERENCE   2  (bases 1 to 2678)
  AUTHORS   Farley,K., Stolley,J.M., Zhao,P., Cooley,J. and Remold-O'Donnell,E.
  TITLE     A serpinB1 regulatory mechanism is essential for restricting
            neutrophil extracellular trap generation
  JOURNAL   J. Immunol. 189 (9), 4574-4581 (2012)
   PUBMED   23002442
  REMARK    GeneRIF: In the resting state during human neutrophil extracellar
            trap generation, SerpinB1 is exclusively in the cytoplasm,
            consistent with the current understanding of clade B serpins, and
            it may migrate and regulate events in the cell nucleus.
REFERENCE   3  (bases 1 to 2678)
  AUTHORS   Uchiyama,K., Naito,Y., Takagi,T., Mizushima,K., Hirai,Y.,
            Hayashi,N., Harusato,A., Inoue,K., Fukumoto,K., Yamada,S.,
            Handa,O., Ishikawa,T., Yagi,N., Kokura,S. and Yoshikawa,T.
  TITLE     Serpin B1 protects colonic epithelial cell via blockage of
            neutrophil elastase activity and its expression is enhanced in
            patients with ulcerative colitis
  JOURNAL   Am. J. Physiol. Gastrointest. Liver Physiol. 302 (10), G1163-G1170
            (2012)
   PUBMED   22421620
  REMARK    GeneRIF: These results suggest that serpin B1 may be a novel marker
            of active ulcerative colitis and may play an important role in the
            pathogenesis of inflammatory bowel disease.
REFERENCE   4  (bases 1 to 2678)
  AUTHORS   Chou,R.H., Wen,H.C., Liang,W.G., Lin,S.C., Yuan,H.W., Wu,C.W. and
            Chang,W.S.
  TITLE     Suppression of the invasion and migration of cancer cells by
            SERPINB family genes and their derived peptides
  JOURNAL   Oncol. Rep. 27 (1), 238-245 (2012)
   PUBMED   21993616
REFERENCE   5  (bases 1 to 2678)
  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 2678)
  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 2678)
  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 2678)
  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 2678)
  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 2678)
  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 Aug 18, 2012 this sequence version replaced gi:20149554.
            
            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 :: AK223370.1, AK291327.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-202               AK309765.1         1-202
            203-1488            BC009015.1         1-1286
            1489-1847           BM785367.1         268-626
            1848-2489           BM823453.1         19-660
            2490-2678           AW451326.1         1-189               c
FEATURES             Location/Qualifiers
     source          1..2678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25"
     gene            1..2678
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="serpin peptidase inhibitor, clade B (ovalbumin),
                     member 1"
                     /db_xref="GeneID:1992"
                     /db_xref="HGNC:3311"
                     /db_xref="HPRD:00555"
                     /db_xref="MIM:130135"
     exon            1..238
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    64..66
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="upstream in-frame stop codon"
     variation       145
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:386713"
     exon            239..414
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     CDS             247..1386
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="serine (or cysteine) proteinase inhibitor, clade B
                     (ovalbumin), member 1; protease inhibitor 2
                     (anti-elastase), monocyte/neutrophil derived; peptidase
                     inhibitor 2"
                     /codon_start=1
                     /product="leukocyte elastase inhibitor"
                     /protein_id="NP_109591.1"
                     /db_xref="GI:13489087"
                     /db_xref="CCDS:CCDS4477.1"
                     /db_xref="GeneID:1992"
                     /db_xref="HGNC:3311"
                     /db_xref="HPRD:00555"
                     /db_xref="MIM:130135"
                     /translation="
MEQLSSANTRFALDLFLALSENNPAGNIFISPFSISSAMAMVFLGTRGNTAAQLSKTFHFNTVEEVHSRFQSLNADINKRGASYILKLANRLYGEKTYNFLPEFLVSTQKTYGADLASVDFQHASEDARKTINQWVKGQTEGKIPELLASGMVDNMTKLVLVNAIYFKGNWKDKFMKEATTNAPFRLNKKDRKTVKMMYQKKKFAYGYIEDLKCRVLELPYQGEELSMVILLPDDIEDESTGLKKIEEQLTLEKLHEWTKPENLDFIEVNVSLPRFKLEESYTLNSDLARLGVQDLFNSSKADLSGMSGARDIFISKIVHKSFVEVNEEGTEAAAATAGIATFCMLMPEENFTADHPFLFFIRHNSSGSILFLGRFSSP
"
     misc_feature    247..249
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylmethionine; propagated from
                     UniProtKB/Swiss-Prot (P30740.1); acetylation site"
     misc_feature    247..249
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="acetylation site"
     misc_feature    256..1383
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="SERine Proteinase INhibitors (serpins) exhibit
                     conformational polymorphism shifting from native to
                     cleaved, latent, delta, or polymorphic forms. Many
                     serpins, such as antitrypsin and antichymotrypsin,
                     function as serine protease inhibitors which regulate...;
                     Region: SERPIN; cl00137"
                     /db_xref="CDD:206855"
     misc_feature    274..1383
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="serpin-like protein; Provisional; Region: PHA02660"
                     /db_xref="CDD:165039"
     misc_feature    655..657
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P30740.1); acetylation site"
     misc_feature    775..777
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P30740.1); acetylation site"
     misc_feature    order(1234..1245,1300..1317)
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /note="reactive center loop; other site"
                     /db_xref="CDD:29117"
     misc_feature    1273..1278
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Reactive bond 1; propagated from
                     UniProtKB/Swiss-Prot (P30740.1); other site"
     misc_feature    1276..1281
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Reactive bond 2; propagated from
                     UniProtKB/Swiss-Prot (P30740.1); other site"
     exon            415..552
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     exon            553..670
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     exon            671..813
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     exon            814..981
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     exon            982..2662
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /inference="alignment:Splign:1.39.8"
     variation       1084
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11551131"
     STS             1128..1370
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /standard_name="RH17753"
                     /db_xref="UniSTS:52269"
     STS             1265..1492
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /standard_name="GDB:435254"
                     /db_xref="UniSTS:157217"
     variation       1275
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3200960"
     polyA_signal    1475..1480
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
     variation       1489
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:15286"
     polyA_site      1495
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
     STS             1814..1963
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /standard_name="SHGC-34164"
                     /db_xref="UniSTS:17165"
     variation       1832
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1060143"
     variation       1884
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1064761"
     variation       1912
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1060144"
     polyA_signal    1944..1949
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
     polyA_site      1971
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
     variation       2165
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2049812"
     STS             2286..2400
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /standard_name="D10S16"
                     /db_xref="UniSTS:155756"
     variation       2345
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2049813"
     STS             2415..2552
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
                     /standard_name="RH35877"
                     /db_xref="UniSTS:47167"
     polyA_signal    2634..2639
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
     polyA_site      2662
                     /gene="SERPINB1"
                     /gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
ORIGIN      
agaaagaagccgcgcccctgaggagggcgctgcccggaagccacgctcacttctgcttgcacttaggcgacctcgggagctcggactcctacgcagtcaccgggaagggccgccgccccgcccgcggctgctggcccgggtgacgcttccgcctgctataagagcagcggccctcggtgcctccttcctgacctcgcacccagctcggagcccggagcgtgcctcggcggcctgtcggttttcaccatggagcagctgagctcagcaaacacccgcttcgccttggacctgttcctggcgttgagtgagaacaatccggctggaaacatcttcatctctcccttcagcatttcatctgctatggccatggtttttctggggaccagaggtaacacggcagcacagctgtccaagactttccatttcaacacggttgaagaggttcattcaagattccagagtctgaatgctgatatcaacaaacgtggagcgtcttatattctgaaacttgctaatagattatatggagagaaaacttacaatttccttcctgagttcttggtttcgactcagaaaacatatggtgctgacctggccagtgtggattttcagcatgcctctgaagatgcaaggaagaccataaaccagtgggtcaaaggacagacagaaggaaaaattccggaactgttggcttcgggcatggttgataacatgaccaaacttgtgctagtaaatgccatctatttcaagggaaactggaaggataaattcatgaaagaagccacgacgaatgcaccattcagattgaataagaaagacagaaaaactgtgaaaatgatgtatcagaagaaaaaatttgcatatggctacatcgaggaccttaagtgccgtgtgctggaactgccttaccaaggcgaggagctcagcatggtcatcctgctgccggatgacattgaggacgagtccacgggcctgaagaagattgaggaacagttgactttggaaaagttgcatgagtggactaaacctgagaatctcgatttcattgaagttaatgtcagcttgcccaggttcaaactggaagagagttacactctcaactccgacctcgcccgcctaggtgtgcaggatctctttaacagtagcaaggctgatctgtctggcatgtcaggagccagagatatttttatatcaaaaattgtccacaagtcatttgtggaagtgaatgaagagggaacagaggcggcagctgccacagcaggcatcgcaactttctgcatgttgatgcccgaagaaaatttcactgccgaccatccattccttttctttattcggcataattcctcaggtagcatcctattcttggggagattttcttccccttagaagaaagagactgtagcaatacaaaaatcaagcttagtgctttattacctgagtttttaatagagccaatatgtcttatatctttaccaataaaaccactgttcagaaacaagtctttcattttctttgtaagtttggctctgttggctgtttacacccatgaattttggcatgggtatctatttttcttttttacattgaaaaaaatccagtggttgcttttgaatgcatcaagtaaagaagaagaaaagaatacatccgatgcgtagattcttgaccatgtagtaatctataaaattgctatatcctcctgatagccatgggaaaacatgataagatggtcatttattttgcagttagaattttggaagccacaaaatagacagacaccctgactgttgaagggaggtttaaaaacagatattcaattgaaatgtaagagagcaccccaattgagagcccaggttacgaagacaagcttgcctcgcctgacttttctgtcccttgttctgcaggattagtattctgttacagacctctagtttttagactcttcaattaaagggccaatggttataacctgcattcccttttttgttcttctttatgtataatatatagttcatgtggcgctgcatgaaatcaagaagtgggtgtcttaggataaaagataccaagagtctacaaaaataaccatgtagtaagataaactgctgaacaaaggttttactgttagccaccttctcatgtgttttcttttctctttttctttttctttctttctttcttttttttttttttgagacagagtcttgctctgttacccaggctggagtgcagtggcacgatctcagctcaccgcaacctctgcctcctgggttcaagtgattctcttgcttcagcctcctgagtagctgggattataggcatgcaccactaggcctggctaatttttgtatttttagtagagatggggtttttccatgttggccaggctggtcccgaactcctgacctcaggtgatccgcgcacctcagcctcccaaagtgctgggattacaggcatgagctaccatgcctggccttctcatgtgttttctgattaaggctcttgacttccaaggctgtgtggggagatggggtgggggctcttggactgatataaaactttgtcaaatgtagttctttgaatggagcttgaaacgccgcatattcttgctcccacaaggatagtgggcatcatgaattaataaaacgtcctaggattctgcaagctaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1992 -> Molecular function: GO:0004867 [serine-type endopeptidase inhibitor activity] evidence: IBA
            GeneID:1992 -> Molecular function: GO:0004867 [serine-type endopeptidase inhibitor activity] evidence: NAS
            GeneID:1992 -> Biological process: GO:0010951 [negative regulation of endopeptidase activity] evidence: IBA
            GeneID:1992 -> Biological process: GO:0030162 [regulation of proteolysis] evidence: IBA
            GeneID:1992 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
            GeneID:1992 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS

by @meso_cacase at DBCLS
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