Home |
Help |
Advanced search
2024-04-17 06:20:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_073112 2674 bp RNA linear PRI 17-JUL-2013
DEFINITION Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin),
member 1 (SERPINB1), transcript variant 3, non-coding RNA.
ACCESSION NR_073112
VERSION NR_073112.1 GI:401709979
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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 2674)
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, BU942473.1,
BI521531.1, BC009015.1, BM785367.1, BM823453.1 and AW451326.1.
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 (3) uses an alternate splice site
in an internal exon compared to variant 1. This variant is
represented as non-coding because the use of the 5'-most expected
translational start codon, as used in variant 1, renders the
transcript a candidate for nonsense-mediated mRNA decay (NMD).
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 :: BU942473.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-189 AK309765.1 1-189
190-743 BU942473.1 5-558
744-996 BI521531.1 215-467
997-1484 BC009015.1 799-1286
1485-1843 BM785367.1 268-626
1844-2485 BM823453.1 19-660
2486-2674 AW451326.1 1-189 c
FEATURES Location/Qualifiers
source 1..2674
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p25"
gene 1..2674
/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="MIM:130135"
misc_RNA 1..2674
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/product="serpin peptidase inhibitor, clade B (ovalbumin),
member 1, transcript variant 3"
/db_xref="GeneID:1992"
/db_xref="HGNC:3311"
/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"
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"
misc_feature 247..828
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/inference="COORDINATES:
alignment:Blast2seq::RefSeq|NM_030666.3"
/note="NR_073112.1, primary ORF has stop codon >50
nucleotides from the terminal splice site;
nonsense-mediated mRNA decay (NMD) candidate."
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..977
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/inference="alignment:Splign:1.39.8"
exon 978..2658
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/inference="alignment:Splign:1.39.8"
variation 1080
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11551131"
variation 1271
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3200960"
polyA_signal 1471..1476
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
variation 1485
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:15286"
polyA_site 1491
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
variation 1828
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1060143"
variation 1880
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064761"
variation 1908
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1060144"
polyA_signal 1940..1945
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
polyA_site 1967
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
variation 2161
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2049812"
variation 2341
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2049813"
polyA_signal 2630..2635
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
polyA_site 2658
/gene="SERPINB1"
/gene_synonym="EI; ELANH2; LEI; M/NEI; MNEI; PI-2; PI2"
ORIGIN
agaaagaagccgcgcccctgaggagggcgctgcccggaagccacgctcacttctgcttgcacttaggcgacctcgggagctcggactcctacgcagtcaccgggaagggccgccgccccgcccgcggctgctggcccgggtgacgcttccgcctgctataagagcagcggccctcggtgcctccttcctgacctcgcacccagctcggagcccggagcgtgcctcggcggcctgtcggttttcaccatggagcagctgagctcagcaaacacccgcttcgccttggacctgttcctggcgttgagtgagaacaatccggctggaaacatcttcatctctcccttcagcatttcatctgctatggccatggtttttctggggaccagaggtaacacggcagcacagctgtccaagactttccatttcaacacggttgaagaggttcattcaagattccagagtctgaatgctgatatcaacaaacgtggagcgtcttatattctgaaacttgctaatagattatatggagagaaaacttacaatttccttcctgagttcttggtttcgactcagaaaacatatggtgctgacctggccagtgtggattttcagcatgcctctgaagatgcaaggaagaccataaaccagtgggtcaaaggacagacagaaggaaaaattccggaactgttggcttcgggcatggttgataacatgaccaaacttgtgctagtaaatgccatctatttcaagggaaactggaaggataaattcatgaaagaagccacgacgaatgcaccattcagattgaataagacagaaaaactgtgaaaatgatgtatcagaagaaaaaatttgcatatggctacatcgaggaccttaagtgccgtgtgctggaactgccttaccaaggcgaggagctcagcatggtcatcctgctgccggatgacattgaggacgagtccacgggcctgaagaagattgaggaacagttgactttggaaaagttgcatgagtggactaaacctgagaatctcgatttcattgaagttaatgtcagcttgcccaggttcaaactggaagagagttacactctcaactccgacctcgcccgcctaggtgtgcaggatctctttaacagtagcaaggctgatctgtctggcatgtcaggagccagagatatttttatatcaaaaattgtccacaagtcatttgtggaagtgaatgaagagggaacagaggcggcagctgccacagcaggcatcgcaactttctgcatgttgatgcccgaagaaaatttcactgccgaccatccattccttttctttattcggcataattcctcaggtagcatcctattcttggggagattttcttccccttagaagaaagagactgtagcaatacaaaaatcaagcttagtgctttattacctgagtttttaatagagccaatatgtcttatatctttaccaataaaaccactgttcagaaacaagtctttcattttctttgtaagtttggctctgttggctgtttacacccatgaattttggcatgggtatctatttttcttttttacattgaaaaaaatccagtggttgcttttgaatgcatcaagtaaagaagaagaaaagaatacatccgatgcgtagattcttgaccatgtagtaatctataaaattgctatatcctcctgatagccatgggaaaacatgataagatggtcatttattttgcagttagaattttggaagccacaaaatagacagacaccctgactgttgaagggaggtttaaaaacagatattcaattgaaatgtaagagagcaccccaattgagagcccaggttacgaagacaagcttgcctcgcctgacttttctgtcccttgttctgcaggattagtattctgttacagacctctagtttttagactcttcaattaaagggccaatggttataacctgcattcccttttttgttcttctttatgtataatatatagttcatgtggcgctgcatgaaatcaagaagtgggtgtcttaggataaaagataccaagagtctacaaaaataaccatgtagtaagataaactgctgaacaaaggttttactgttagccaccttctcatgtgttttcttttctctttttctttttctttctttctttcttttttttttttttgagacagagtcttgctctgttacccaggctggagtgcagtggcacgatctcagctcaccgcaacctctgcctcctgggttcaagtgattctcttgcttcagcctcctgagtagctgggattataggcatgcaccactaggcctggctaatttttgtatttttagtagagatggggtttttccatgttggccaggctggtcccgaactcctgacctcaggtgatccgcgcacctcagcctcccaaagtgctgggattacaggcatgagctaccatgcctggccttctcatgtgttttctgattaaggctcttgacttccaaggctgtgtggggagatggggtgggggctcttggactgatataaaactttgtcaaatgtagttctttgaatggagcttgaaacgccgcatattcttgctcccacaaggatagtgggcatcatgaattaataaaacgtcctaggattctgcaagctaaaaaaaaaaaaaaaaa
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.