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2024-04-19 02:38:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004131 941 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens granzyme B (granzyme 2, cytotoxic
T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.
ACCESSION NM_004131
VERSION NM_004131.4 GI:221625527
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 941)
AUTHORS Cao,Y., Pan,Y., Huang,H., Jin,X., Levin,E.J., Kloss,B. and Zhou,M.
TITLE Gating of the TrkH ion channel by its associated RCK protein TrkA
JOURNAL Nature 496 (7445), 317-322 (2013)
PUBMED 23598339
REMARK GeneRIF: results suggest a mechanism for how ATP increases TrkH
activity by inducing conformational changes in TrkA
REFERENCE 2 (bases 1 to 941)
AUTHORS Karrich,J.J., Jachimowski,L.C., Nagasawa,M., Kamp,A., Balzarolo,M.,
Wolkers,M.C., Uittenbogaart,C.H., Marieke van Ham,S. and Blom,B.
TITLE IL-21-stimulated human plasmacytoid dendritic cells secrete
granzyme B, which impairs their capacity to induce T-cell
proliferation
JOURNAL Blood 121 (16), 3103-3111 (2013)
PUBMED 23407551
REMARK GeneRIF: IL-21-induced granzyme B production by plasmacytoid
dendritic cells inhibits T-cell proliferation.
REFERENCE 3 (bases 1 to 941)
AUTHORS Lopez,J.A., Susanto,O., Jenkins,M.R., Lukoyanova,N., Sutton,V.R.,
Law,R.H., Johnston,A., Bird,C.H., Bird,P.I., Whisstock,J.C.,
Trapani,J.A., Saibil,H.R. and Voskoboinik,I.
TITLE Perforin forms transient pores on the target cell plasma membrane
to facilitate rapid access of granzymes during killer cell attack
JOURNAL Blood 121 (14), 2659-2668 (2013)
PUBMED 23377437
REMARK GeneRIF: This study defines the final sequence of events
controlling cytotoxic lymphocyte immune defense, in which perforin
pores assemble on the target cell plasma membrane, ensuring
efficient delivery of lethal granzymes.
REFERENCE 4 (bases 1 to 941)
AUTHORS Knevel,R., Krabben,A., Wilson,A.G., Brouwer,E., Leijsma,M.K.,
Lindqvist,E., de Rooy,D.P., Daha,N.A., van der Linden,M.P.,
Tsonaka,S., Zhernakova,A., Westra,H.J., Franke,L.,
Houwing-Duistermaat,J.J., Toes,R.E., Huizinga,T.W., Saxne,T. and
van der Helm-van Mil,A.H.
TITLE A genetic variant in granzyme B is associated with progression of
joint destruction in rheumatoid arthritis
JOURNAL Arthritis Rheum. 65 (3), 582-589 (2013)
PUBMED 23440692
REMARK GeneRIF: Single nucleotide polymorphism rs8192916 located in GZMB
is associated with the progression of joint destruction in
rheumatoid arthritis as well as with RNA expression in whole blood.
REFERENCE 5 (bases 1 to 941)
AUTHORS Spencer,C.T., Abate,G., Sakala,I.G., Xia,M., Truscott,S.M.,
Eickhoff,C.S., Linn,R., Blazevic,A., Metkar,S.S., Peng,G.,
Froelich,C.J. and Hoft,D.F.
TITLE Granzyme A produced by gamma(9)delta(2) T cells induces human
macrophages to inhibit growth of an intracellular pathogen
JOURNAL PLoS Pathog. 9 (1), E1003119 (2013)
PUBMED 23326234
REMARK GeneRIF: Granzyme A produced by gamma(9)delta(2) T cells induces
human macrophages to inhibit growth of an intracellular pathogen.
REFERENCE 6 (bases 1 to 941)
AUTHORS Poe,M., Blake,J.T., Boulton,D.A., Gammon,M., Sigal,N.H., Wu,J.K.
and Zweerink,H.J.
TITLE Human cytotoxic lymphocyte granzyme B. Its purification from
granules and the characterization of substrate and inhibitor
specificity
JOURNAL J. Biol. Chem. 266 (1), 98-103 (1991)
PUBMED 1985927
REFERENCE 7 (bases 1 to 941)
AUTHORS Haddad,P., Jenne,D., Tschopp,J., Clement,M.V., Mathieu-Mahul,D. and
Sasportes,M.
TITLE Structure and evolutionary origin of the human granzyme H gene
JOURNAL Int. Immunol. 3 (1), 57-66 (1991)
PUBMED 2049336
REFERENCE 8 (bases 1 to 941)
AUTHORS Meier,M., Kwong,P.C., Fregeau,C.J., Atkinson,E.A., Burrington,M.,
Ehrman,N., Sorensen,O., Lin,C.C., Wilkins,J. and Bleackley,R.C.
TITLE Cloning of a gene that encodes a new member of the human cytotoxic
cell protease family
JOURNAL Biochemistry 29 (17), 4042-4049 (1990)
PUBMED 2193684
REFERENCE 9 (bases 1 to 941)
AUTHORS Hanson,R.D., Hohn,P.A., Popescu,N.C. and Ley,T.J.
TITLE A cluster of hematopoietic serine protease genes is found on the
same chromosomal band as the human alpha/delta T-cell receptor
locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (3), 960-963 (1990)
PUBMED 2300587
REFERENCE 10 (bases 1 to 941)
AUTHORS Kopp,S.
TITLE Reproducibility of response to a questionnaire on symptoms of
masticatory dysfunction
JOURNAL Community Dent Oral Epidemiol 4 (5), 205-209 (1976)
PUBMED 1067155
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY372494.1, BX283601.1 and
CB528665.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 27, 2009 this sequence version replaced gi:32483414.
Summary: Cytolytic T lymphocytes (CTL) and natural killer (NK)
cells share the remarkable ability to recognize, bind, and lyse
specific target cells. They are thought to protect their host by
lysing cells bearing on their surface 'nonself' antigens, usually
peptides or proteins resulting from infection by intracellular
pathogens. The protein encoded by this gene is crucial for the
rapid induction of target cell apoptosis by CTL in cell-mediated
immune response. [provided by RefSeq, Jul 2008].
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 :: BM561748.1, AY372494.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-229 AY372494.1 42-270
230-305 BX283601.1 232-307
306-910 AY372494.1 347-951
911-941 CB528665.1 1-31 c
FEATURES Location/Qualifiers
source 1..941
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q11.2"
gene 1..941
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/note="granzyme B (granzyme 2, cytotoxic
T-lymphocyte-associated serine esterase 1)"
/db_xref="GeneID:3002"
/db_xref="HGNC:4709"
/db_xref="MIM:123910"
exon 1..121
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="alignment:Splign:1.39.8"
CDS 67..810
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/EC_number="3.4.21.79"
/note="fragmentin 2; cathepsin G-like 1; T-cell serine
protease 1-3E; cytotoxic serine protease B; C11; CTLA-1;
fragmentin-2; human lymphocyte protein; cytotoxic
T-lymphocyte proteinase 2"
/codon_start=1
/product="granzyme B precursor"
/protein_id="NP_004122.2"
/db_xref="GI:221625528"
/db_xref="CCDS:CCDS9633.1"
/db_xref="GeneID:3002"
/db_xref="HGNC:4709"
/db_xref="MIM:123910"
/translation="
MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVLTAAHCWGSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTLQEVKMTVQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVSYGRNNGMPPRACTKVSSFVHWIKKTMKRY
"
sig_peptide 67..126
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
mat_peptide 127..807
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/product="granzyme B"
misc_feature 127..795
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/note="Trypsin-like serine protease; Many of these are
synthesized as inactive precursor zymogens that are
cleaved during limited proteolysis to generate their
active forms. Alignment contains also inactive enzymes
that have substitutions of the catalytic triad...; Region:
Tryp_SPc; cd00190"
/db_xref="CDD:29152"
misc_feature 127..129
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/note="cleavage site"
/db_xref="CDD:29152"
misc_feature order(256..258,388..390,673..675)
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/note="active site"
/db_xref="CDD:29152"
misc_feature order(655..657,718..720,724..726)
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/note="substrate binding sites [chemical binding]; other
site"
/db_xref="CDD:29152"
misc_feature 748..750
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="non-experimental evidence, no additional
details recorded"
/note="Mediates preference for Asp-containing substrates
(By similarity); propagated from UniProtKB/Swiss-Prot
(P10144.2); other site"
exon 122..269
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="alignment:Splign:1.39.8"
variation 230
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/replace="a"
/replace="g"
/db_xref="dbSNP:8192917"
exon 270..405
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="alignment:Splign:1.39.8"
STS 291..629
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/standard_name="PMC60854P1"
/db_xref="UniSTS:273405"
variation 306
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/replace="a"
/replace="g"
/db_xref="dbSNP:10909625"
variation 346
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/replace="c"
/replace="g"
/db_xref="dbSNP:11539752"
variation 387
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/replace="c"
/replace="t"
/db_xref="dbSNP:1126639"
exon 406..666
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="alignment:Splign:1.39.8"
exon 667..927
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/inference="alignment:Splign:1.39.8"
STS 832..912
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
/standard_name="D14S1256"
/db_xref="UniSTS:31851"
polyA_signal 900..905
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
polyA_site 927
/gene="GZMB"
/gene_synonym="CCPI; CGL-1; CGL1; CSP-B; CSPB; CTLA1;
CTSGL1; HLP; SECT"
ORIGIN
ccaagagctaaaagagagcaaggaggaaacaacagcagctccaaccagggcagccttcctgagaagatgcaaccaatcctgcttctgctggccttcctcctgctgcccagggcagatgcaggggagatcatcgggggacatgaggccaagccccactcccgcccctacatggcttatcttatgatctgggatcagaagtctctgaagaggtgcggtggcttcctgatacgagacgacttcgtgctgacagctgctcactgttggggaagctccataaatgtcaccttgggggcccacaatatcaaagaacaggagccgacccagcagtttatccctgtgaaaagacccatcccccatccagcctataatcctaagaacttctccaacgacatcatgctactgcagctggagagaaaggccaagcggaccagagctgtgcagcccctcaggctacctagcaacaaggcccaggtgaagccagggcagacatgcagtgtggccggctgggggcagacggcccccctgggaaaacactcacacacactacaagaggtgaagatgacagtgcaggaagatcgaaagtgcgaatctgacttacgccattattacgacagtaccattgagttgtgcgtgggggacccagagattaaaaagacttcctttaagggggactctggaggccctcttgtgtgtaacaaggtggcccagggcattgtctcctatggacgaaacaatggcatgcctccacgagcctgcaccaaagtctcaagctttgtacactggataaagaaaaccatgaaacgctactaactacaggaagcaaactaagcccccgctgtaatgaaacaccttctctggagccaagtccagatttacactgggagaggtgccagcaactgaataaatacctcttagctgagtggaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3002 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: TAS
GeneID:3002 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3002 -> Molecular function: GO:0008236 [serine-type peptidase activity] evidence: TAS
GeneID:3002 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:3002 -> Biological process: GO:0006922 [cleavage of lamin involved in execution phase of apoptosis] evidence: IDA
GeneID:3002 -> Biological process: GO:0007219 [Notch signaling pathway] evidence: TAS
GeneID:3002 -> Biological process: GO:0019835 [cytolysis] evidence: IEA
GeneID:3002 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
GeneID:3002 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS
GeneID:3002 -> Cellular component: GO:0001772 [immunological synapse] evidence: TAS
GeneID:3002 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
GeneID:3002 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:3002 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:3002 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_004122 -> EC 3.4.21.79
by
@meso_cacase at
DBCLS
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