GZMM - granzyme M Gene

Also Known as MET1; LMET1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3004

About GZMM

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:544,053-549,922 (from NCBI)

This gene has 2 transcripts (splice variants), 179 orthologues and 14 paralogues. Biased expression in spleen (RPKM 8.2), lymph node (RPKM 6.5) and 13 other tissues.

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]

GZMM Products (2)

mRNA Protein Name
NM_001258351.2 NP_001245280.2 granzyme M isoform 2
NM_005317.4 NP_005308.2 granzyme M isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21857942 GOA
enables serine-type endopeptidase activity IMP
IMP: Inferred from mutant phenotype
21857942 GOA
Biological Process GO Annotation Evidence References Source
involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
21857942 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GZMM Protein Structure

Trypsin

Trypsin: Trypsin (26 - 249)

  • 0
  • 100
  • 200
  • 257 a.a.
Protein Preferred Names Protein Names

granzyme M

  • HU-Met-1

GZMM Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GZMM P51124 ZNF774 Homo sapiens Q6NX45 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Larsen-Like Syndrome B3gat3 Type
  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Cataract 38
  • CTRCT38

  • Catc5

  • Autosomal Recessive Congenital Cataract 5

  • Cataract, Autosomal Recessive Congenital 5

  • Cataract 38, Autosomal Recessive

  • Cataract, Type 38

Autoinflammation, Panniculitis, And Dermatosis Syndrome
  • Otulipenia

  • Otulin-Related Autoinflammatory Syndrome

  • AIPDS

  • Oras

  • Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome

  • Autoinflammation, Panniculitis And Dermatosis Syndrome

  • Otulin Deficiency

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
  • Ehlers-Danlos Syndrome Progeroid Type

  • Ehlers-Danlos Syndrome, Progeroid Type, 2

  • EDSSPD2

  • Ehlers-Danlos Syndrome Spondylodysplastic Type 2

  • Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly

  • Edsp2, Formerly

  • Defective Biosynthesis Of Proteodermatan Sulfate

  • Xgpt Deficiency

  • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

  • B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

  • B3galt6-Related Speds

  • B3galt6-Related Spondylodysplastic Eds

  • Beta3galt6-Deficient Eds

  • Ehlers-Danlos Syndrome Progeroid Type 2

  • Speds-B3galt6

  • Edsp2

  • Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2

  • Ehlers-Danlos Syndrome, Progeroid Form

Cartilage-Hair Hypoplasia
  • Metaphyseal Chondrodysplasia, Mckusick Type

  • CHH

  • Mckusick Type Metaphyseal Chondrodysplasia

  • Metaphyseal Dysplasia Without Hypotrichosis

  • Cartilage Hair Hypoplasia Like Syndrome

  • Metaphyseal Chondrodysplasia Mckusick Type

  • Chhv

  • Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

  • Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

  • Cartilage-Hair Syndrome

  • Mckusick'S Metaphyseal Chondrodysplasia Syndrome

  • Metaphyseal Chondrodysplasia, Recessive Type

  • Autosomal Recessive Metaphyseal Chondrodysplasia

Glycogen Storage Disease Iv
  • Gsd Iv

  • Glycogen Branching Enzyme Deficiency

  • Andersen Disease

  • Amylopectinosis

  • Glycogen Storage Disease Type Iv

  • GSD4

  • Brancher Deficiency

  • Glycogen Storage Disease, Type Iv

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gbe1 Deficiency

  • Glycogenosis Iv

  • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

  • Glycogen Storage Disease Type 4

  • Glycogenosis 4

  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

  • Andersen'S Disease

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Brancher Deficiency Glycogenosis

  • Branching-Transferase Deficiency Glycogenosis

  • Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

  • Andersen-Tawil Syndrome

  • Gsd 4

  • Andersen Cardiodysrhythmic Periodic Paralysis

  • Lqt7

  • Long Qt Syndrome 7

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Andersen Glycogenosis

  • Branching Enzyme Deficiency

  • Glycogenosis, Type Iv

  • Gsd Type Iv

  • Type Iv Glycogenosis

  • Gbe Deficiency, Childhood Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Gsd Type 4, Childhood Neuromuscular Form

  • Gsdiv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogenosis Type 4, Childhood Neuromuscular Form

  • Glycogenosis Type Iv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gbe Deficiency, Adult Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gsd Type 4, Adult Neuromuscular Form

  • Gsdiv, Adult Neuromuscular Form

  • Glycogen Storage Disease Type 4, Adult Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Glycogenosis Type 4, Adult Neuromuscular Form

  • Glycogenosis Type Iv, Adult Neuromuscular Form

  • Gbe Deficiency, Congenital Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gsd Type 4, Congenital Neuromuscular Form

  • Gsdiv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Glycogenosis Type 4, Congenital Neuromuscular Form

  • Glycogenosis Type Iv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

  • Gsdiv, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Type 4, Fatal Perinatal Neuromuscular Form

  • Gsdiv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gbe Deficiency, Non Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gsd Type 4, Non Progressive Hepatic Form

  • Gsdiv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Glycogenosis Type 4, Non Progressive Hepatic Form

  • Glycogenosis Type Iv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gbe Deficiency, Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gsd Type 4, Progressive Hepatic Form

  • Gsdiv, Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Glycogenosis Type 4, Progressive Hepatic Form

  • Glycogenosis Type Iv, Progressive Hepatic Form

  • Glycogen Storage Disease 4

  • Gsd-Iv

  • Storage Disease, Glycogen, Type Iv

Unilateral Focal Polymicrogyria
Psoriasis 11
  • PSORS11

  • Psoriasis Susceptibility 11

  • Psoriasis

  • Psoriasis Vulgaris

  • Psoriasis 11, Susceptibility To

  • Pv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GZMM MGD MGI:99549
Rattus norvegicus GZMM RGD RGD:620022
Bos taurus GZMM VGNC VGNC:29734
Others GZMM NCBI