2024-04-26 09:10:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005317 958 bp mRNA linear PRI 13-MAY-2013 DEFINITION Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), transcript variant 1, mRNA. ACCESSION NM_005317 VERSION NM_005317.3 GI:385275108 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 958) AUTHORS Wang,S., Xia,P., Shi,L. and Fan,Z. TITLE FADD cleavage by NK cell granzyme M enhances its self-association to facilitate procaspase-8 recruitment for auto-processing leading to caspase cascade JOURNAL Cell Death Differ. 19 (4), 605-615 (2012) PUBMED 21979465 REMARK GeneRIF: FADD cleavage by NK cell granzyme M enhances its self-association to facilitate procaspase-8 recruitment for auto-processing leading to caspase cascade. REFERENCE 2 (bases 1 to 958) AUTHORS Bovenschen,N., de Koning,P.J., Quadir,R., Broekhuizen,R., Damen,J.M., Froelich,C.J., Slijper,M. and Kummer,J.A. TITLE NK cell protease granzyme M targets alpha-tubulin and disorganizes the microtubule network JOURNAL J. Immunol. 180 (12), 8184-8191 (2008) PUBMED 18523284 REMARK GeneRIF: Granzyme M targets major components of the cytoskeleton that likely contribute to natural killer (NK) cell-induced cell death. REFERENCE 3 (bases 1 to 958) AUTHORS Lu,H., Hou,Q., Zhao,T., Zhang,H., Zhang,Q., Wu,L. and Fan,Z. TITLE Granzyme M directly cleaves inhibitor of caspase-activated DNase (CAD) to unleash CAD leading to DNA fragmentation JOURNAL J. Immunol. 177 (2), 1171-1178 (2006) PUBMED 16818775 REMARK GeneRIF: Granzyme (Gzm)M can directly degrade inhibitor of caspase-activated DNase (ICAD) to activate CAD, leading to DNA damage; GzmM cleaves DNA damage sensor enzyme poly(ADP-ribose) polymerase to prevent cellular DNA repair and force apoptosis. REFERENCE 4 (bases 1 to 958) AUTHORS Mahrus,S., Kisiel,W. and Craik,C.S. TITLE Granzyme M is a regulatory protease that inactivates proteinase inhibitor 9, an endogenous inhibitor of granzyme B JOURNAL J. Biol. Chem. 279 (52), 54275-54282 (2004) PUBMED 15494398 REMARK GeneRIF: proteinase inhibitor 9 was effectively hydrolyzed and inactivated by human granzyme M, raising the possibility that this orphan granzyme bypasses proteinase inhibitor 9 inhibition of granzyme B REFERENCE 5 (bases 1 to 958) AUTHORS Kelly,J.M., Waterhouse,N.J., Cretney,E., Browne,K.A., Ellis,S., Trapani,J.A. and Smyth,M.J. TITLE Granzyme M mediates a novel form of perforin-dependent cell death JOURNAL J. Biol. Chem. 279 (21), 22236-22242 (2004) PUBMED 15028722 REMARK GeneRIF: granzyme M represents a third major and specialized perforin-dependent cell death pathway that plays a significant role in death mediated by NK cells REFERENCE 6 (bases 1 to 958) AUTHORS Krenacs,L., Smyth,M.J., Bagdi,E., Krenacs,T., Kopper,L., Rudiger,T., Zettl,A., Muller-Hermelink,H.K., Jaffe,E.S. and Raffeld,M. TITLE The serine protease granzyme M is preferentially expressed in NK-cell, gamma delta T-cell, and intestinal T-cell lymphomas: evidence of origin from lymphocytes involved in innate immunity JOURNAL Blood 101 (9), 3590-3593 (2003) PUBMED 12506019 REMARK GeneRIF: GM expression is a distinctive feature of the nasal NK/T-cell, gamma delta T-cell, and intestinal T-cell lymphomas, and suggest that these tumors develop from lymphocytes involved in innate immunity. REFERENCE 7 (bases 1 to 958) AUTHORS Smyth,M.J., O'Connor,M.D. and Trapani,J.A. TITLE Granzymes: a variety of serine protease specificities encoded by genetically distinct subfamilies JOURNAL J. Leukoc. Biol. 60 (5), 555-562 (1996) PUBMED 8929545 REMARK Review article REFERENCE 8 (bases 1 to 958) AUTHORS Pilat,D., Fink,T., Obermaier-Skrobanek,B., Zimmer,M., Wekerle,H., Lichter,P. and Jenne,D.E. TITLE The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on 19p13.3 JOURNAL Genomics 24 (3), 445-450 (1994) PUBMED 7713495 REFERENCE 9 (bases 1 to 958) AUTHORS Baker,E., Sutherland,G.R. and Smyth,M.J. TITLE The gene encoding a human natural killer cell granule serine protease, Met-ase 1, maps to chromosome 19p13.3 JOURNAL Immunogenetics 39 (4), 294-295 (1994) PUBMED 8119738 REFERENCE 10 (bases 1 to 958) AUTHORS Smyth,M.J., Sayers,T.J., Wiltrout,T., Powers,J.C. and Trapani,J.A. TITLE Met-ase: cloning and distinct chromosomal location of a serine protease preferentially expressed in human natural killer cells JOURNAL J. Immunol. 151 (11), 6195-6205 (1993) PUBMED 8245461 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CR991101.1, BC025701.1 and CD366947.1. On Apr 26, 2012 this sequence version replaced gi:7108347. Summary: Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). 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 :: BC025701.1, L23134.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088, ERS025089 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-28 CR991101.1 1-28 29-935 BC025701.1 1-907 936-958 CD366947.1 1-23 c FEATURES Location/Qualifiers source 1..958 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3" gene 1..958 /gene="GZMM" /gene_synonym="LMET1; MET1" /note="granzyme M (lymphocyte met-ase 1)" /db_xref="GeneID:3004" /db_xref="HGNC:4712" /db_xref="HPRD:02633" /db_xref="MIM:600311" exon 1..93 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 4 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:16990734" variation 7 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:371091671" variation 35 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:148492637" CDS 39..812 /gene="GZMM" /gene_synonym="LMET1; MET1" /note="isoform 1 preproprotein is encoded by transcript variant 1; lymphocyte met-ase 1; HU-Met-1; Met-1 serine protease; natural killer cell granular protease" /codon_start=1 /product="granzyme M isoform 1 preproprotein" /protein_id="NP_005308.1" /db_xref="GI:4885369" /db_xref="CCDS:CCDS12031.1" /db_xref="GeneID:3004" /db_xref="HGNC:4712" /db_xref="HPRD:02633" /db_xref="MIM:600311" /translation="
MEACVSSLLVLALGALSVGSSFGTQIIGGREVIPHSRPYMASLQRNGSHLCGGVLVHPKWVLTAAHCLAQRMAQLRLVLGLHTLDSPGLTFHIKAAIQHPRYKPVPALENDLALLQLDGKVKPSRTIRPLALPSKRQVVAAGTRCSMAGWGLTHQGGRLSRVLRELDLQVLDTRMCNNSRFWNGSLSPSMVCLAADSKDQAPCKGDSGGPLVCGKGRVLAGVLSFSSRVCTDIFKPPVATAVAPYVSWIRKVTGRSA
" sig_peptide 39..107 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" proprotein 108..809 /gene="GZMM" /gene_synonym="LMET1; MET1" /product="granzyme M isoform 1 proprotein" mat_peptide 114..809 /gene="GZMM" /gene_synonym="LMET1; MET1" /product="granzyme M isoform 1" misc_feature 114..794 /gene="GZMM" /gene_synonym="LMET1; MET1" /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 114..116 /gene="GZMM" /gene_synonym="LMET1; MET1" /note="cleavage site" /db_xref="CDD:29152" misc_feature order(234..236,369..371,657..659) /gene="GZMM" /gene_synonym="LMET1; MET1" /note="active site" /db_xref="CDD:29152" misc_feature order(639..641,708..710,714..716) /gene="GZMM" /gene_synonym="LMET1; MET1" /note="substrate binding sites [chemical binding]; other site" /db_xref="CDD:29152" variation 50 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:201728234" variation 75 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:61729587" exon 94..250 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 101 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:201257717" variation 119 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139076851" variation 126 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:373840917" variation 127 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:143995851" variation 141 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:200360663" variation 145 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:145060399" variation 147 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:148691419" variation 152 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:368042562" variation 158 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:370173494" variation 160 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:61729586" variation 161 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:151192827" variation 186 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:140327613" variation 192 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:146522321" variation 226 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:374939287" variation 243 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:147907546" exon 251..386 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 266 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:376460584" variation 279 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:372439590" variation 299 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:370698507" variation 321 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:114537924" variation 328..329 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="" /replace="t" /db_xref="dbSNP:34174518" variation 339 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:77680573" variation 347 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:373532340" variation 376 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:148344737" variation 377 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:142179152" exon 387..650 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 392 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:201550779" variation 420 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:146201764" variation 424 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139221174" variation 435 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:142301648" variation 439 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:199699879" variation 443 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:201131588" variation 444 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:140428817" variation 468 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:150512032" variation 482 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:372337474" variation 487 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:375216906" variation 491 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:373711246" variation 506 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:150398893" variation 507 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:199911384" variation 510 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:202213878" variation 519 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:369292401" variation 520 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:58379043" variation 528 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:200669012" variation 529 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:369942908" variation 542 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:59235301" variation 545 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:59771750" variation 559 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:201897461" variation 598 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:373974834" variation 614 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:377563439" variation 623 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:11672721" variation 636 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:200398398" exon 651..941 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 652 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:139484295" variation 654 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:201561127" variation 675 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="t" /db_xref="dbSNP:374806995" variation 688 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:59539774" variation 699 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:1599882" variation 700 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:17845771" variation 704 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:371239880" variation 709 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:374422648" STS 726..857 /gene="GZMM" /gene_synonym="LMET1; MET1" /standard_name="RH71363" /db_xref="UniSTS:71365" variation 728 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139629210" variation 746 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:58562291" variation 749 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:58601458" variation 750 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:200659579" variation 762 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:368863219" variation 773 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:141658632" variation 798 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:142892784" variation 802 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:151036435" variation 805 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:371890199" variation 806 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:376548111" variation 811 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:370155439" variation 820 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:200816488" variation 850 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:111763479" variation 896 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:116707574" variation 910 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:113273340" polyA_signal 916..921 /gene="GZMM" /gene_synonym="LMET1; MET1" polyA_site 941 /gene="GZMM" /gene_synonym="LMET1; MET1" variation 941 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="t" /db_xref="dbSNP:79638775" ORIGIN
ggccggggccagcacccacactgggtctccacagcggcatggaggcctgcgtgtcttcactgctggtgctggccctgggggccctgtcagtaggcagctcctttgggacccagatcatcgggggccgggaggtgatcccccactcgcgcccgtacatggcctcactgcagagaaatggctcccacctgtgcgggggtgtcctggtgcacccaaagtgggtgctgacggctgcccactgcctggcccagcggatggcccagctgaggctggtgctggggctccacaccctggacagccccggtctcaccttccacatcaaggcagccatccagcaccctcgctacaagcccgtccctgccctggagaacgacctcgcgctgcttcagctggacgggaaagtgaagcccagccggaccatccggccgttggccctgcccagtaagcgccaggtggtggcagcagggactcggtgcagcatggccggctgggggctgacccaccagggcgggcgcctgtcccgggtgctgcgggagctggacctccaagtgctggacacccgcatgtgtaacaacagccgcttctggaacggcagcctctcccccagcatggtctgcctggcggccgactccaaggaccaggctccctgcaagggtgactcgggcgggcccctggtgtgtggcaaaggccgggtgttggccggagtcctgtccttcagctccagggtctgcactgacatcttcaagcctcccgtggccaccgctgtggcgccttacgtgtcctggatcaggaaggtcaccggccgatcggcctgatgccctggggtgatggggaccccctcgctgtctccacaggacccttcccctccaggggtgcagtggggtgggtgaggacgggtgggagggacagggagggaccaataaatcataatgaagaaacgctcaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3004 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IEA GeneID:3004 -> Molecular function: GO:0008236 [serine-type peptidase activity] evidence: TAS GeneID:3004 -> Biological process: GO:0006508 [proteolysis] evidence: IEA GeneID:3004 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:3004 -> Biological process: GO:0019835 [cytolysis] evidence: IEA GeneID:3004 -> Biological process: GO:0045087 [innate immune response] evidence: IEA GeneID:3004 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
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