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    GZMM granzyme M [ Homo sapiens (human) ]

    Gene ID: 3004, updated on 5-Mar-2024

    Summary

    Official Symbol
    GZMMprovided by HGNC
    Official Full Name
    granzyme Mprovided by HGNC
    Primary source
    HGNC:HGNC:4712
    See related
    Ensembl:ENSG00000197540 MIM:600311; AllianceGenome:HGNC:4712
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MET1; LMET1
    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]
    Expression
    Biased expression in spleen (RPKM 8.2), lymph node (RPKM 6.5) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GZMM in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (544053..549922)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (497822..503990)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (544053..549922)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MADCAM1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:506573-507430 Neighboring gene Sharpr-MPRA regulatory region 4509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511078-511918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511919-512760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:518458-519364 Neighboring gene tubulin polyglutamylase complex subunit 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:531801-532457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534117-534693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:534694-535269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13563 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:535719-535880 Neighboring gene cell division cycle 34, ubiqiutin conjugating enzyme Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:543421-544066 Neighboring gene CRISPRi-validated cis-regulatory element chr19.73 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:570844-571416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9607 Neighboring gene BSG antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:583377-583939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:583940-584501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9608 Neighboring gene basigin (Ok blood group) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:588071-588650 Neighboring gene Rho GTPase activating protein 33 pseudogene Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    granzyme M
    Names
    HU-Met-1
    Met-1 serine protease
    lymphocyte met-ase 1
    met-ase
    natural killer cell granular protease

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001258351.2NP_001245280.2  granzyme M isoform 2

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC011556
      Consensus CDS
      CCDS74240.1
      UniProtKB/TrEMBL
      U3KQV5
      Related
      ENSP00000476255.2, ENST00000592501.5
      Conserved Domains (1) summary
      cd00190
      Location:1213
      Tryp_SPc; 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 ...
    2. NM_005317.4NP_005308.2  granzyme M isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011556
      Consensus CDS
      CCDS12031.1
      UniProtKB/Swiss-Prot
      P51124
      Related
      ENSP00000264553.1, ENST00000264553.6
      Conserved Domains (1) summary
      cd00190
      Location:26252
      Tryp_SPc; 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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      544053..549922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      497822..503990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)