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2024-05-02 06:55:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006144 913 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens granzyme A (granzyme 1, cytotoxic
T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.
ACCESSION NM_006144
VERSION NM_006144.3 GI:194097328
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 913)
AUTHORS Olsson,B., Jernas,M. and Wadenvik,H.
TITLE Increased plasma levels of granzymes in adult patients with chronic
immune thrombocytopenia
JOURNAL Thromb. Haemost. 107 (6), 1182-1184 (2012)
PUBMED 22476618
REMARK GeneRIF: Patients with chronic immune thrombocytopenia have
elevated serum granzyme A levels.
REFERENCE 2 (bases 1 to 913)
AUTHORS Hoves,S., Sutton,V.R., Haynes,N.M., Hawkins,E.D., Fernandez
Ruiz,D., Baschuk,N., Sedelies,K.A., Schnurr,M., Stagg,J.,
Andrews,D.M., Villadangos,J.A. and Trapani,J.A.
TITLE A critical role for granzymes in antigen cross-presentation through
regulating phagocytosis of killed tumor cells
JOURNAL J. Immunol. 187 (3), 1166-1175 (2011)
PUBMED 21709155
REMARK GeneRIF: A critical and previously unsuspected role is revealed for
granzymes A and B in dictating immunogenicity by influencing the
mode of tumor cell death.
REFERENCE 3 (bases 1 to 913)
AUTHORS Ilzecka,J.
TITLE Granzymes A and B levels in serum of patients with amyotrophic
lateral sclerosis
JOURNAL Clin. Biochem. 44 (8-9), 650-653 (2011)
PUBMED 21349256
REMARK GeneRIF: The results indicate that GzmA and GzmB are implicated in
mechanisms of neurodegeneration in amyotrophic lateral sclerosis.
REFERENCE 4 (bases 1 to 913)
AUTHORS Legrand,F., Driss,V., Delbeke,M., Loiseau,S., Hermann,E.,
Dombrowicz,D. and Capron,M.
TITLE Human eosinophils exert TNF-alpha and granzyme A-mediated
tumoricidal activity toward colon carcinoma cells
JOURNAL J. Immunol. 185 (12), 7443-7451 (2010)
PUBMED 21068403
REMARK GeneRIF: Human eosinophils exert TNF-alpha and granzyme A-mediated
tumoricidal activity toward colon carcinoma cells.
REFERENCE 5 (bases 1 to 913)
AUTHORS Van Damme,P., Maurer-Stroh,S., Hao,H., Colaert,N., Timmerman,E.,
Eisenhaber,F., Vandekerckhove,J. and Gevaert,K.
TITLE The substrate specificity profile of human granzyme A
JOURNAL Biol. Chem. 391 (8), 983-997 (2010)
PUBMED 20536382
REMARK GeneRIF: investigation of substrate specificity toward Jurkat cell
proteins; more than 260 cleavage sites, almost exclusively favoring
basic residues at the P1 position, in approximately 200 unique
protein substrates, were identified
REFERENCE 6 (bases 1 to 913)
AUTHORS Pasternack,M.S., Bleier,K.J. and McInerney,T.N.
TITLE Granzyme A binding to target cell proteins. Granzyme A binds to and
cleaves nucleolin in vitro
JOURNAL J. Biol. Chem. 266 (22), 14703-14708 (1991)
PUBMED 1860869
REFERENCE 7 (bases 1 to 913)
AUTHORS Hameed,A., Lowrey,D.M., Lichtenheld,M. and Podack,E.R.
TITLE Characterization of three serine esterases isolated from human IL-2
activated killer cells
JOURNAL J. Immunol. 141 (9), 3142-3147 (1988)
PUBMED 3262682
REFERENCE 8 (bases 1 to 913)
AUTHORS Poe,M., Bennett,C.D., Biddison,W.E., Blake,J.T., Norton,G.P.,
Rodkey,J.A., Sigal,N.H., Turner,R.V., Wu,J.K. and Zweerink,H.J.
TITLE Human cytotoxic lymphocyte tryptase. Its purification from granules
and the characterization of inhibitor and substrate specificity
JOURNAL J. Biol. Chem. 263 (26), 13215-13222 (1988)
PUBMED 3047119
REFERENCE 9 (bases 1 to 913)
AUTHORS Gershenfeld,H.K., Hershberger,R.J., Shows,T.B. and Weissman,I.L.
TITLE Cloning and chromosomal assignment of a human cDNA encoding a T
cell- and natural killer cell-specific trypsin-like serine protease
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (4), 1184-1188 (1988)
PUBMED 3257574
REFERENCE 10 (bases 1 to 913)
AUTHORS Murphy,M.E., Moult,J., Bleackley,R.C., Gershenfeld,H.,
Weissman,I.L. and James,M.N.
TITLE Comparative molecular model building of two serine proteinases from
cytotoxic T lymphocytes
JOURNAL Proteins 4 (3), 190-204 (1988)
PUBMED 3237717
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP330335.1 and BC015739.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 11, 2008 this sequence version replaced gi:6996012.
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 described here is a T cell- and natural
killer cell-specific serine protease that may function as a common
component necessary for lysis of target cells by cytotoxic T
lymphocytes and natural killer cells. [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 :: BC015739.1, BQ053520.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025086 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-29 BP330335.1 1-29
30-913 BC015739.1 1-884
FEATURES Location/Qualifiers
source 1..913
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q11-q12"
gene 1..913
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/note="granzyme A (granzyme 1, cytotoxic
T-lymphocyte-associated serine esterase 3)"
/db_xref="GeneID:3001"
/db_xref="HGNC:4708"
/db_xref="HPRD:00771"
/db_xref="MIM:140050"
exon 1..107
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="alignment:Splign:1.39.8"
misc_feature 17..19
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/note="upstream in-frame stop codon"
CDS 38..826
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/EC_number="3.4.21.78"
/note="CTL tryptase; Granzyme A (Cytotoxic
T-lymphocyte-associated serine esterase-3; Hanukah factor
serine protease); HF; h factor; fragmentin-1; cytotoxic
T-lymphocyte proteinase 1"
/codon_start=1
/product="granzyme A precursor"
/protein_id="NP_006135.1"
/db_xref="GI:5453676"
/db_xref="CCDS:CCDS3965.1"
/db_xref="GeneID:3001"
/db_xref="HGNC:4708"
/db_xref="HPRD:00771"
/db_xref="MIM:140050"
/translation="
MRNSYRFLASSLSVVVSLLLIPEDVCEKIIGGNEVTPHSRPYMVLLSLDRKTICAGALIAKDWVLTAAHCNLNKRSQVILGAHSITREEPTKQIMLVKKEFPYPCYDPATREGDLKLLQLTEKAKINKYVTILHLPKKGDDVKPGTMCQVAGWGRTHNSASWSDTLREVNITIIDRKVCNDRNHYNFNPVIGMNMVCAGSLRGGRDSCNGDSGSPLLCEGVFRGVTSFGLENKCGDPRGPGVYILLSKKHLNWIIMTIKGAV
"
sig_peptide 38..115
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 122..799
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/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 122..124
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/note="cleavage site"
/db_xref="CDD:29152"
misc_feature order(242..244,377..379,671..673)
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/note="active site"
/db_xref="CDD:29152"
misc_feature order(653..655,716..718,722..724)
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/note="substrate binding sites [chemical binding]; other
site"
/db_xref="CDD:29152"
variation 55
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147632912"
variation 107
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="g"
/replace="t"
/db_xref="dbSNP:142297007"
exon 108..252
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="alignment:Splign:1.39.8"
variation 108
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="t"
/db_xref="dbSNP:191172631"
variation 127
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730833"
variation 141
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:201342797"
variation 159
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="c"
/db_xref="dbSNP:72764175"
variation 163
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:371257704"
variation 233
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="t"
/db_xref="dbSNP:183080634"
exon 253..394
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="alignment:Splign:1.39.8"
variation 302
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="g"
/replace="t"
/db_xref="dbSNP:139073733"
variation 309
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:141463827"
variation 310
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="c"
/db_xref="dbSNP:370970693"
variation 338
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:374989331"
variation 341
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:370738873"
variation 365
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:56123911"
variation 368
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:150441571"
exon 395..664
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="alignment:Splign:1.39.8"
variation 399
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:3104233"
variation 399
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace=""
/replace="c"
/db_xref="dbSNP:35912873"
variation 412
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="t"
/db_xref="dbSNP:372514056"
variation 432
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:369222212"
variation 457
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875506"
variation 495
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="c"
/db_xref="dbSNP:2270627"
variation 499
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="g"
/db_xref="dbSNP:1051846"
variation 518
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:142272396"
variation 527
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:149445760"
variation 531
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:145934520"
variation 552
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:61730832"
variation 581
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:368948899"
variation 582
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:142064253"
variation 584
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="c"
/db_xref="dbSNP:151159567"
variation 586
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="t"
/db_xref="dbSNP:139102453"
variation 592
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:374377355"
variation 615
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:149924275"
variation 620
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:61730831"
variation 633
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:142259151"
variation 644
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:368307665"
exon 665..896
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/inference="alignment:Splign:1.39.8"
variation 691
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:374569624"
variation 692
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:141571360"
variation 703
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:146248117"
variation 704
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:368559295"
variation 705
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147876051"
variation 739
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:371339546"
variation 740
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:374808018"
variation 748
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:371703377"
variation 749
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="t"
/db_xref="dbSNP:201968763"
variation 755
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="c"
/replace="g"
/db_xref="dbSNP:368655711"
variation 792
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:372192022"
variation 795
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:202102393"
variation 815
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:201747623"
variation 831
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="c"
/db_xref="dbSNP:367648448"
polyA_signal 872..877
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
variation 886
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
/replace="a"
/replace="g"
/db_xref="dbSNP:149763225"
polyA_site 896
/gene="GZMA"
/gene_synonym="CTLA3; HFSP"
ORIGIN
agattttcaggttgattgatgtgggacagcagccacaatgaggaactcctatagatttctggcatcctctctctcagttgtcgtttctctcctgctaattcctgaagatgtctgtgaaaaaattattggaggaaatgaagtaactcctcattcaagaccctacatggtcctacttagtcttgacagaaaaaccatctgtgctggggctttgattgcaaaagactgggtgttgactgcagctcactgtaacttgaacaaaaggtcccaggtcattcttggggctcactcaataaccagggaagagccaacaaaacagataatgcttgttaagaaagagtttccctatccatgctatgacccagccacacgcgaaggtgaccttaaacttttacagctgacggaaaaagcaaaaattaacaaatatgtgactatccttcatctacctaaaaagggggatgatgtgaaaccaggaaccatgtgccaagttgcagggtggggcaggactcacaatagtgcatcttggtccgatactctgagagaagtcaatatcaccatcatagacagaaaagtctgcaatgatcgaaatcactataattttaaccctgtgattggaatgaatatggtttgtgctggaagcctccgaggtggaagagactcgtgcaatggagattctggaagccctttgttgtgcgagggtgttttccgaggggtcacttcctttggccttgaaaataaatgcggagaccctcgtgggcctggtgtctatattcttctctcaaagaaacacctcaactggataattatgactatcaagggagcagtttaaataaccgtttcctttcatttactgtggcttcttaatcttttcacaaataaaatcaatttgcatgactgtaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3001 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IDA
GeneID:3001 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3001 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA
GeneID:3001 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:3001 -> Biological process: GO:0006922 [cleavage of lamin involved in execution phase of apoptosis] evidence: IDA
GeneID:3001 -> Biological process: GO:0006955 [immune response] evidence: TAS
GeneID:3001 -> Biological process: GO:0019835 [cytolysis] evidence: IEA
GeneID:3001 -> Biological process: GO:0032078 [negative regulation of endodeoxyribonuclease activity] evidence: IDA
GeneID:3001 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA
GeneID:3001 -> Biological process: GO:0043392 [negative regulation of DNA binding] evidence: IDA
GeneID:3001 -> Biological process: GO:0051354 [negative regulation of oxidoreductase activity] evidence: IDA
GeneID:3001 -> Biological process: GO:0051603 [proteolysis involved in cellular protein catabolic process] evidence: IDA
GeneID:3001 -> Cellular component: GO:0001772 [immunological synapse] evidence: TAS
GeneID:3001 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
GeneID:3001 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_006135 -> EC 3.4.21.78
by
@meso_cacase at
DBCLS
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