HNMT - histamine N-methyltransferase Gene

Also Known as HMT; MRT51; HNMT-S1; HNMT-S2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3176

About HNMT

Cytogenetic location: 2q22.1 Genomic coordinates (GRCh38): 2:137,964,473-138,016,364 (from NCBI)

This gene has 8 transcripts (splice variants), 263 orthologues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 20.0), fat (RPKM 16.4) and 24 other tissues.

Summary

In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

HNMT Products (3)

mRNA Protein Name
NM_001024074.3 NP_001019245.1 histamine N-methyltransferase isoform 2
NM_001024075.3 NP_001019246.1 histamine N-methyltransferase isoform 3
NM_006895.3 NP_008826.1 histamine N-methyltransferase isoform 1
Molecular Function GO Annotation Evidence References Source
enables histamine N-methyltransferase activity IDA
IDA: Inferred from direct assay
26206890 GOA
Biological Process GO Annotation Evidence References Source
involved in histamine catabolic process IDA
IDA: Inferred from direct assay
26206890 GOA
involved in histamine metabolic process IMP
IMP: Inferred from mutant phenotype
23505051 GOA
involved in methylation IDA
IDA: Inferred from direct assay
26206890 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
26206890 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
23505051 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

HNMT Protein Structure

Methyltransf_23

Methyltransf_23: Methyltransferase domain (38 - 215)

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

histamine N-methyltransferase

Recombinant HNMT Proteins

Cat. No. Product Name Accession Purity
HY-P75811 HNMT Protein, Human (His) P50135-1 (M1-A292) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 51
  • MRT51

  • Mental Retardation, Autosomal Recessive 51

  • Autosomal Recessive Intellectual Developmental Disorder 51

Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

Autosomal Recessive Non-Syndromic Intellectual Disability
  • Ar-Nsid

  • Ns-Arid

Akinetopsia
Urticaria
  • Nettle Rash

  • Hives

  • Wheal

  • Urticaria Nos

Strabismic Amblyopia
  • Suppression Amblyopia

  • Amblyopia

  • Amblyopia, Suppression

Angioedema
  • Angioneurotic Oedema

  • Quincke'S Edema

  • Angioneurotic Edema

  • Giant Urticaria

Alzheimer Disease 19
  • AD19

  • Alzheimer'S Disease 19

  • Alzheimer Disease 19, Late-Onset

  • Alzheimer Disease 19 Late Onset

  • Late-Onset Alzheimer Disease

  • Alzheimer Disease, Late Onset, Susceptibility To, Type 19

  • Alzheimer Disease, Late Onset

Autotopagnosia
  • Body-Image Agnosia

Allergic Rhinitis
  • Hay Fever

  • Allergic Rhinitis, Susceptibility To

  • ALRH

  • Atopic Rhinitis

  • Seasonal Allergic Rhinitis

  • Non-Seasonal Allergic Rhinitis

  • Perenial Allergic Rhinitis

  • Pollenosis

  • Rhinitis Allergic Seasonal

  • Rhinitis, Allergic, Perennial

  • Allergic Rhinitis, Cause Unspecified

  • Pollinosis

  • Pollen Allergy

  • Allergy Nos Due To Pollen

  • Summer Catarrh

  • Other Seasonal Allergic Rhinitis

Form Agnosia
Eosinophilia-Myalgia Syndrome
  • Eosinophilia Myalgia Syndrome

  • Ems

  • L-Tryptophan Induced Ems

  • Severe Muscle Pain And Abnormally High Eosinophils

  • Syndrome With Inflammatory And Autoimmune Components That Affect The Skin, Fascia, Muscle, Nerve, Blood Vessels, Lung, And Heart

Food Allergy
  • Food Hypersensitivity

  • Food Allergies

  • Allergy Food

  • Food Allergen-Induced Hypersensitivity

Essential Tremor
  • Benign Essential Tremor

  • Familial Tremor

  • Hereditary Essential Tremor

  • Essential Hereditary Tremor

  • Shaky Hand Syndrome

  • Benign Essential Tremor Syndrome

  • Tremor Hereditary Essential

  • Essential Tremor, Susceptibility To

  • Tremor, Hereditary Essential

Visual Agnosia
  • Primary Visual Agnosia

Anisometropia
Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Epithelial-Stromal Tgfbi Dystrophy
Prosopagnosia
Visual Cortex Disease
  • Visual Cortex Dysfunction

  • Visual Cortex Disorder

  • Visual Cortical Disorder

  • Disease Of Visual Cortex

Lattice Corneal Dystrophy
  • Familial Amyloid Neuropathy, Finnish Type

  • Familial Amyloid Polyneuropathy, Type V

Visual Pathway Disease
  • Disorder Of Visual Pathways

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Amblyopia
  • Lazy Eye

Meier-Gorlin Syndrome 2
  • MGORS2

  • Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9
  • Epilepsy, Idiopathic Generalized, Susceptibility To, 9

  • EIG9

  • Epilepsy, Juvenile Myoclonic 6

  • Idiopathic Generalized Epilepsy 9

  • Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

  • Susceptibility To Idiopathic Generalized Epilepsy 9

  • Juvenile Myoclonic Epilepsy 6

  • EJM6

  • Susceptibility To Juvenile Myoclonic Epilepsy 6

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Cortical Blindness
  • Blindness, Cortical

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Primary Hyperoxaluria
  • Hyperoxaluria

  • Hyperoxaluria, Primary

  • Oxalosis

  • Primary Oxalosis

  • Congenital Oxaluria

  • D-Glycerate Dehydrogenase Deficiency

  • Glyceric Aciduria

  • Glycolic Aciduria

  • Hepatic Agt Deficiency

  • Oxaluria, Primary

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Primary Oxaluria

  • Hyperoxaluria Primary

  • Primary Hyperoxaluria Type 2

  • Primary Hyperoxaluria, Type I

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

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
Rattus norvegicus HNMT RGD RGD:71049
Felis catus HNMT VGNC VGNC:80230
Bos taurus HNMT VGNC VGNC:29893
Canis familiaris HNMT VGNC VGNC:54805
Mus musculus HNMT MGD MGI:2153181
Others HNMT NCBI