Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GZMM Gene

Aliases for GZMM Gene

  • Granzyme M 2 3 5
  • Natural Killer Cell Granular Protease 3 4
  • Met-1 Serine Protease 3 4
  • Lymphocyte Met-Ase 1 2 3
  • HU-Met-1 3 4
  • Met-Ase 3 4
  • MET1 3 4
  • Granzyme M (Lymphocyte Met-Ase 1) 2
  • EC 3.4.21.- 4
  • EC 3.4.21 61
  • LMET1 3

External Ids for GZMM Gene

Previous GeneCards Identifiers for GZMM Gene

  • GC19P000554
  • GC19P000579
  • GC19P000484
  • GC19P000495
  • GC19P000314

Summaries for GZMM Gene

Entrez Gene Summary for GZMM Gene

  • 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]

GeneCards Summary for GZMM Gene

GZMM (Granzyme M) is a Protein Coding gene. Diseases associated with GZMM include Adrenal Insufficiency, Congenital, With 46Xy Sex Reversal, Partial Or Complete. Among its related pathways are Immune System and Creation of C4 and C2 activators. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is CFD.

UniProtKB/Swiss-Prot for GZMM Gene

  • Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells.

Gene Wiki entry for GZMM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GZMM Gene

Genomics for GZMM Gene

Regulatory Elements for GZMM Gene

Enhancers for GZMM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F000510 1.7 FANTOM5 Ensembl ENCODE 20.6 -32.2 -32214 3.2 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CBX5 ZNF143 GZMM TPGS1 MADCAM1 RNF126 LOC105372232 CDC34
GH19F000657 1.5 FANTOM5 ENCODE 22.3 +116.8 116767 7.0 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 GZMM ENSG00000267666 ARHGAP45 RNF126 ABCA7 TMEM259 R3HDM4 FGF22 GC19P000645
GH19F000995 1.6 FANTOM5 Ensembl ENCODE 19.9 +452.2 452176 1.5 ATF1 GLI4 ZNF2 GLIS2 ZNF416 KLF7 FOS PAF1 SP3 YY2 WDR18 MIER2 GZMM LOC100288123 ENSG00000267317 TMEM259 C19orf24 SCAMP4 GRIN3B ARHGAP45
GH19F000906 1.5 FANTOM5 ENCODE 12.6 +364.5 364525 4.7 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ARHGAP45 CFD MIDN R3HDM4 CIRBP ABCA7 ENSG00000261526 ELANE PRTN3 GZMM
GH19F001025 1.5 FANTOM5 ENCODE 7.5 +484.3 484347 5.8 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 SP3 NFYC ABCA7 CNN2 C19orf24 ARHGAP45 SCAMP4 GRIN3B SBNO2 GZMM R3HDM4 RNU6-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GZMM on UCSC Golden Path with GeneCards custom track

Genomic Location for GZMM Gene

Chromosome:
19
Start:
544,034 bp from pter
End:
549,924 bp from pter
Size:
5,891 bases
Orientation:
Plus strand

Genomic View for GZMM Gene

Genes around GZMM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GZMM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GZMM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GZMM Gene

Proteins for GZMM Gene

  • Protein details for GZMM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51124-GRAM_HUMAN
    Recommended name:
    Granzyme M
    Protein Accession:
    P51124

    Protein attributes for GZMM Gene

    Size:
    257 amino acids
    Molecular mass:
    27545 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GZMM Gene

neXtProt entry for GZMM Gene

Selected DME Specific Peptides for GZMM Gene

P51124:
  • VLTAAHC
  • GDSGGPL
  • CGGVLVH
  • DLALLQL
  • SGGPLVC
  • CKGDSGG
  • PHSRPYMA
  • WVLTAAH

Post-translational modifications for GZMM Gene

  • Glycosylation at Asn 177
  • Modification sites at PhosphoSitePlus

Other Protein References for GZMM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for GZMM Gene

Suggested Antigen Peptide Sequences for GZMM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51124

UniProtKB/Swiss-Prot:

GRAM_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Granzyme subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.
genes like me logo Genes that share domains with GZMM: view

No data available for Gene Families for GZMM Gene

Function for GZMM Gene

Molecular function for GZMM Gene

GENATLAS Biochemistry:
natural killer cells granule serine protease,cleaving after methionine (Met-ase)
UniProtKB/Swiss-Prot Function:
Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells.

Enzyme Numbers (IUBMB) for GZMM Gene

Gene Ontology (GO) - Molecular Function for GZMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004252 serine-type endopeptidase activity IMP 21857942
GO:0005515 protein binding IPI 21857942
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 7713495
genes like me logo Genes that share ontologies with GZMM: view
genes like me logo Genes that share phenotypes with GZMM: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GZMM

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GZMM Gene

Localization for GZMM Gene

Subcellular locations from UniProtKB/Swiss-Prot for GZMM Gene

Secreted. Cytoplasmic granule. Note=Granules of large granular lymphocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GZMM gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GZMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with GZMM: view

Pathways & Interactions for GZMM Gene

genes like me logo Genes that share pathways with GZMM: view

Pathways by source for GZMM Gene

Gene Ontology (GO) - Biological Process for GZMM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IEA --
GO:0008219 cell death IMP 21857942
GO:0019835 cytolysis IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with GZMM: view

No data available for SIGNOR curated interactions for GZMM Gene

Drugs & Compounds for GZMM Gene

(1) Drugs for GZMM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GZMM: view

Transcripts for GZMM Gene

mRNA/cDNA for GZMM Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GZMM Gene

Granzyme M (lymphocyte met-ase 1):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GZMM Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:

Relevant External Links for GZMM Gene

GeneLoc Exon Structure for
GZMM
ECgene alternative splicing isoforms for
GZMM

Expression for GZMM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GZMM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GZMM Gene

This gene is overexpressed in Whole Blood (x34.6) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for GZMM Gene

This gene is overexpressed in NK cells (30.2), CD8 Tcells (11.9), Peripheral blood mononuclear cells (11.5), Monocytes (6.9), and Blymphocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GZMM Gene



Protein tissue co-expression partners for GZMM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GZMM Gene:

GZMM

SOURCE GeneReport for Unigene cluster for GZMM Gene:

Hs.465511

mRNA Expression by UniProt/SwissProt for GZMM Gene:

P51124-GRAM_HUMAN
Tissue specificity: Highly and constitutively expressed in activated natural killer (NK) cells.
genes like me logo Genes that share expression patterns with GZMM: view

Primer Products

Orthologs for GZMM Gene

This gene was present in the common ancestor of chordates.

Orthologs for GZMM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GZMM 34 35
  • 77.4 (n)
mouse
(Mus musculus)
Mammalia Gzmm 34 16 35
  • 74.07 (n)
rat
(Rattus norvegicus)
Mammalia Gzmm 34
  • 73.94 (n)
oppossum
(Monodelphis domestica)
Mammalia GZMM 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves GZMM 34 35
  • 62.81 (n)
Species where no ortholog for GZMM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GZMM Gene

ENSEMBL:
Gene Tree for GZMM (if available)
TreeFam:
Gene Tree for GZMM (if available)

Paralogs for GZMM Gene

Variants for GZMM Gene

Sequence variations from dbSNP and Humsavar for GZMM Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10402909 -- 543,359(+) atatc(C/T)gtccg upstream-variant-2KB
rs111264758 -- 544,707(+) CATCA(-/TCCCTCCC)TCCCT intron-variant
rs111416348 -- 544,210(+) GGGCG(C/T)CGACA intron-variant
rs111763479 -- 549,829(+) TCCAC(A/C)GGACC utr-variant-3-prime
rs111775147 -- 550,149(+) ATTAC(A/G)GGCGT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GZMM Gene

Variant ID Type Subtype PubMed ID
nsv953938 CNV deletion 24416366
nsv578129 CNV loss 21841781
nsv577978 CNV gain 21841781
nsv509712 CNV insertion 20534489
nsv470101 CNV loss 18288195
nsv428360 CNV gain 18775914
nsv1142246 CNV tandem duplication 24896259
nsv1141783 CNV insertion 24896259
nsv1077681 CNV insertion 25765185
esv2661476 CNV deletion 23128226
esv2656977 CNV deletion 23128226

Variation tolerance for GZMM Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GZMM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GZMM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GZMM Gene

Disorders for GZMM Gene

MalaCards: The human disease database

(1) MalaCards diseases for GZMM Gene - From: DISEASES

Disorder Aliases PubMed IDs
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete
  • adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete
- elite association - COSMIC cancer census association via MalaCards
Search GZMM in MalaCards View complete list of genes associated with diseases

Relevant External Links for GZMM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GZMM
genes like me logo Genes that share disorders with GZMM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GZMM Gene

Publications for GZMM Gene

  1. Cleavage of survivin by Granzyme M triggers degradation of the survivin-X-linked inhibitor of apoptosis protein (XIAP) complex to free caspase activity leading to cytolysis of target tumor cells. (PMID: 20406824) Hu D. … Fan Z. (J. Biol. Chem. 2010) 3 4 22 64
  2. Structural basis for proteolytic specificity of the human apoptosis- inducing granzyme M. (PMID: 19542453) Wu L. … Fan Z. (J. Immunol. 2009) 3 4 22 64
  3. The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on 19p13.3. (PMID: 7713495) Pilat D. … Jenne D.E. (Genomics 1994) 3 4 22 64
  4. Met-ase: cloning and distinct chromosomal location of a serine protease preferentially expressed in human natural killer cells. (PMID: 8245461) Smyth M.J. … Trapani J.A. (J. Immunol. 1993) 3 4 22 64
  5. Nucleophosmin is cleaved and inactivated by the cytotoxic granule protease granzyme M during natural killer cell-mediated killing. (PMID: 19103589) Cullen S.P. … Martin S.J. (J. Biol. Chem. 2009) 3 22 64

Products for GZMM Gene

Sources for GZMM Gene

Content
Loading form....