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2024-04-18 16:30:10, 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 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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