2024-05-04 20:06:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001258351 954 bp mRNA linear PRI 20-APR-2013 DEFINITION Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), transcript variant 2, mRNA. ACCESSION NM_001258351 VERSION NM_001258351.1 GI:385275109 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 954) 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 954) 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 954) 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 954) 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 954) 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 954) 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 954) 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 954) 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 954) 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 954) 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. 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 (2) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter at the N-terminus compared to 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 :: BI823094.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025089 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-457 CR991101.1 1-457 458-931 BC025701.1 434-907 932-954 CD366947.1 1-23 c FEATURES Location/Qualifiers source 1..954 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3" gene 1..954 /gene="GZMM" /gene_synonym="LMET1; MET1" /note="granzyme M (lymphocyte met-ase 1)" /db_xref="GeneID:3004" /db_xref="HGNC:4712" /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" 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..246 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 97 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:201257717" variation 115 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139076851" variation 122 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:373840917" variation 123 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:143995851" variation 137 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:200360663" variation 141 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:145060399" variation 143 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:148691419" variation 148 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:368042562" CDS 152..808 /gene="GZMM" /gene_synonym="LMET1; MET1" /note="isoform 2 is encoded by transcript variant 2; lymphocyte met-ase 1; HU-Met-1; Met-1 serine protease; natural killer cell granular protease" /codon_start=1 /product="granzyme M isoform 2" /protein_id="NP_001245280.1" /db_xref="GI:385275110" /db_xref="GeneID:3004" /db_xref="HGNC:4712" /db_xref="MIM:600311" /translation="
MASLQRNGSHLCGGVLVHPKWVLTAAHCLAQRMAQLRLVLGLHTLDSPGLTFHIKAAIQHPRYKPVPALENDLALLQLDGKVKPSRTIRPLALPSKRQVVAAGTRCSMAGWGLTHQGGRLSRVLRELDLQVLDTRMCNNSRFWNGSLSPSMVCLAADSKDQAPCKGDSGGPLVCGKGRVLAGVLSFSSRVCTDIFKPPVATAVAPYVSWIRKVTGRSA
" misc_feature 152..790 /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 order(230..232,365..367,653..655) /gene="GZMM" /gene_synonym="LMET1; MET1" /note="active site" /db_xref="CDD:29152" misc_feature order(635..637,704..706,710..712) /gene="GZMM" /gene_synonym="LMET1; MET1" /note="substrate binding sites [chemical binding]; other site" /db_xref="CDD:29152" variation 154 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:370173494" variation 156 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:61729586" variation 157 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:151192827" variation 182 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:140327613" variation 188 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:146522321" variation 222 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:374939287" variation 239 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:147907546" exon 247..382 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 262 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:376460584" variation 275 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:372439590" variation 295 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:370698507" variation 317 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:114537924" variation 324..325 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="" /replace="t" /db_xref="dbSNP:34174518" variation 335 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:77680573" variation 343 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:373532340" variation 372 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:148344737" variation 373 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:142179152" exon 383..646 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 388 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:201550779" variation 416 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:146201764" variation 420 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139221174" variation 431 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:142301648" variation 435 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:199699879" variation 439 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:201131588" variation 440 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:140428817" variation 464 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:150512032" variation 478 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:372337474" variation 483 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:375216906" variation 487 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:373711246" variation 502 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:150398893" variation 503 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:199911384" variation 506 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:202213878" variation 515 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:369292401" variation 516 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:58379043" variation 524 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:200669012" variation 525 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:369942908" variation 538 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:59235301" variation 541 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:59771750" variation 555 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:201897461" variation 594 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:373974834" variation 610 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:377563439" variation 619 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:11672721" variation 632 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:200398398" exon 647..937 /gene="GZMM" /gene_synonym="LMET1; MET1" /inference="alignment:Splign:1.39.8" variation 648 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="g" /replace="t" /db_xref="dbSNP:139484295" variation 650 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:201561127" variation 671 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="t" /db_xref="dbSNP:374806995" variation 684 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:59539774" variation 695 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:1599882" variation 696 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:17845771" variation 700 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:371239880" variation 705 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:374422648" STS 722..853 /gene="GZMM" /gene_synonym="LMET1; MET1" /standard_name="RH71363" /db_xref="UniSTS:71365" variation 724 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:139629210" variation 742 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:58562291" variation 745 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:58601458" variation 746 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:200659579" variation 758 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:368863219" variation 769 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:141658632" variation 794 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:142892784" variation 798 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:151036435" variation 801 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="t" /db_xref="dbSNP:371890199" variation 802 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:376548111" variation 807 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="c" /replace="g" /db_xref="dbSNP:370155439" variation 816 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:200816488" variation 846 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="c" /db_xref="dbSNP:111763479" variation 892 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:116707574" variation 906 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="g" /db_xref="dbSNP:113273340" polyA_signal 912..917 /gene="GZMM" /gene_synonym="LMET1; MET1" polyA_site 937 /gene="GZMM" /gene_synonym="LMET1; MET1" variation 937 /gene="GZMM" /gene_synonym="LMET1; MET1" /replace="a" /replace="t" /db_xref="dbSNP:79638775" ORIGIN
ggccggggccagcacccacactgggtctccacagcggcatggaggcctgcgtgtcttcactgctggtgctggccctgggggccctgtcagtagctcctttgggacccagatcatcgggggccgggaggtgatcccccactcgcgcccgtacatggcctcactgcagagaaatggctcccacctgtgcgggggtgtcctggtgcacccaaagtgggtgctgacggctgcccactgcctggcccagcggatggcccagctgaggctggtgctggggctccacaccctggacagccccggtctcaccttccacatcaaggcagccatccagcaccctcgctacaagcccgtccctgccctggagaacgacctcgcgctgcttcagctggacgggaaagtgaagcccagccggaccatccggccgttggccctgcccagtaagcgccaggtggtggcagcagggactcggtgcagcatggccggctgggggctgacccaccagggcgggcgcctgtcccgggtgctgcgggagctggacctccaagtgctggacacccgcatgtgtaacaacagccgcttctggaacggcagcctctcccccagcatggtctgcctggcggccgactccaaggaccaggctccctgcaagggtgactcgggcgggcccctggtgtgtggcaaaggccgggtgttggccggagtcctgtccttcagctccagggtctgcactgacatcttcaagcctcccgtggccaccgctgtggcgccttacgtgtcctggatcaggaaggtcaccggccgatcggcctgatgccctggggtgatggggaccccctcgctgtctccacaggacccttcccctccaggggtgcagtggggtgggtgaggacgggtgggagggacagggagggaccaataaatcataatgaagaaacgctcaaaaaaaaaaaaaaaaaa
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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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