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FLASH GENE
Symbol HNMT contributors: mct - updated : 15-01-2019
HGNC name histamine N-methyltransferase
HGNC id 5028
Corresponding disease
MRT51 mental retardation, autosomal recessive 51
Location 2q22.1      Physical location : 138.721.807 - 138.773.933
Synonym symbol(s) HMT-S1, HNMT-S2, MRT51
EC.number 2.1.1.8
DNA
TYPE functioning gene
STRUCTURE 52.30 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3373 33 292 - 1996 8605025
  • HNMT L
  • 3 - 907 - 126 placenta, lowly in brain 1996 8605025
    HNMT S
    2 - 767 - 51 - 1996 8605025
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific Homo sapiens
    Respiratorylung   moderately
    respiratorylungbronchi  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Hmt
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • histamine N-methyltransferase, S-adenosyl-L-methionine dependent cytosolic enzyme
  • playing a role in degrading histamine and in regulating the airway response to histamine
  • catalyzes the methylation of histamine and plays an important role in histamine biotransformation in bronchial epithelium
  • HNMT is critically important for the maintenance of neurological processes
  • role for HNMT in histamine inactivation
  • is an enzyme expressed in the central nervous system that specifically metabolises histamine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS respiration
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT51
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    enhanced brain histamine concentrations
    Susceptibility
  • to asthma
  • to autoimmune myasthenia gravis (MG)
  • to aspirin intolerant chronic urticaria (AICU)
  • Variant & Polymorphism SNP , other
  • ILE 105
  • common threonine-isoleucine polymorphism at residue 105, distal from the active site, and this variant has decreased activity and lower protein levels than the 105T protein
  • HNMT 939A>G polymorphism lowers HNMT enzymatic activity by decreasing HNMT mRNA stability, which leads to an increase in the histamine level and contributes to the development of aspirin intolerant chronic urticaria (AICU)
  • A939G HNMT polymorphism is associated with autoimmune myasthenia gravis (MG)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS