Human Gene GZMM (ENST00000264553.6_6) from GENCODE V47lift37
  Description: granzyme M, transcript variant 1 (from RefSeq NM_005317.4)
Gencode Transcript: ENST00000264553.6_6
Gencode Gene: ENSG00000197540.8_8
Transcript (Including UTRs)
   Position: hg19 chr19:544,053-549,922 Size: 5,870 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr19:544,072-549,791 Size: 5,720 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:544,053-549,922)mRNA (may differ from genome)Protein (257 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRAM_HUMAN
DESCRIPTION: RecName: Full=Granzyme M; EC=3.4.21.-; AltName: Full=Met-1 serine protease; Short=Hu-Met-1; AltName: Full=Met-ase; AltName: Full=Natural killer cell granular protease; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Secreted. Cytoplasmic granule. Note=Granules of large granular lymphocytes.
TISSUE SPECIFICITY: Highly and constitutively expressed in activated natural killer (NK) cells.
SIMILARITY: Belongs to the peptidase S1 family. Granzyme subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GZMM
Diseases sorted by gene-association score: adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.73 RPKM in Whole Blood
Total median expression: 78.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.7019-0.142 Picture PostScript Text
3' UTR -49.00131-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin
PF13365 - Trypsin-like peptidase domain

SCOP Domains:
47266 - 4-helical cytokines
50494 - Trypsin-like serine proteases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1LZP - Model 2ZGC - X-ray MuPIT 2ZGH - X-ray MuPIT 2ZGJ - X-ray MuPIT 2ZKS - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P51124
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0002376 immune system process
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0008219 cell death
GO:0019835 cytolysis
GO:0045087 innate immune response

Cellular Component:
GO:0005576 extracellular region
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  JD484580 - Sequence 465604 from Patent EP1572962.
JD369997 - Sequence 351021 from Patent EP1572962.
BC025701 - Homo sapiens granzyme M (lymphocyte met-ase 1), mRNA (cDNA clone MGC:34377 IMAGE:5222281), complete cds.
HQ257986 - Synthetic construct Homo sapiens clone IMAGE:100072295 granzyme M (lymphocyte met-ase 1) (GZMM) gene, encodes complete protein.
KJ891319 - Synthetic construct Homo sapiens clone ccsbBroadEn_00713 GZMM gene, encodes complete protein.
AB590860 - Synthetic construct DNA, clone: pFN21AE1752, Homo sapiens GZMM gene for granzyme M, without stop codon, in Flexi system.
L23134 - Homo sapiens metase (MET-1) mRNA, complete cds.
JD229131 - Sequence 210155 from Patent EP1572962.
JD470625 - Sequence 451649 from Patent EP1572962.
JD402300 - Sequence 383324 from Patent EP1572962.
JD544631 - Sequence 525655 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P51124 (Reactome details) participates in the following event(s):

R-HSA-173745 Factor D cleaves C3(H2O)-bound Factor B
R-HSA-183122 Factor D cleaves C3b-bound Factor B
R-HSA-173736 Alternative complement activation
R-HSA-166663 Initial triggering of complement
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000264553.1, ENST00000264553.2, ENST00000264553.3, ENST00000264553.4, ENST00000264553.5, GRAM_HUMAN, MET1, NM_005317, P51124, uc317hte.1, uc317hte.2
UCSC ID: ENST00000264553.6_6
RefSeq Accession: NM_005317.4
Protein: P51124 (aka GRAM_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.