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GZMM granzyme M [ Homo sapiens (human) ]

Gene ID: 3004, updated on 15-Dec-2018

Summary

Official Symbol
GZMMprovided by HGNC
Official Full Name
granzyme Mprovided by HGNC
Primary source
HGNC:HGNC:4712
See related
Ensembl:ENSG00000197540 MIM:600311
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

Genomic context

See GZMM in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (544034..549920)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (544034..549920)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tubulin polyglutamylase complex subunit 1 Neighboring gene cell division cycle 34 Neighboring gene uncharacterized LOC105372233 Neighboring gene basigin (Ok blood group) 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Alternative complement activation, organism-specific biosystem (from REACTOME)
    Alternative complement activation, organism-specific biosystemThe proteins participating in alternative pathway activation are C3 (and C3b), the factors B, D, and properdin. In the first place, alternative pathway activation is a positive feedback mechanism to ...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Initial triggering of complement, organism-specific biosystem (from REACTOME)
    Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
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)

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_001258351.1NP_001245280.1  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)
    BC025701, CD366947, CR991101
    Consensus CDS
    CCDS74240.1
    UniProtKB/Swiss-Prot
    P51124
    Related
    ENSP00000476255.2, ENST00000592501.5
    Conserved Domains (2) summary
    smart00020
    Location:1210
    Tryp_SPc; Trypsin-like serine protease
    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
    Related
    ENSP00000264553.1, ENST00000264553.5
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    544034..549920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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