HNMT - histamine N-methyltransferase Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables histamine N-methyltransferase activity	IDA IDA: Inferred from direct assay	26206890	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
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	参考文献	由来
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

0
100
200
292 a.a.

Protein Preferred Names	Protein Names
histamine N-methyltransferase

Recombinant HNMT Proteins

製品番号	製品名	アクセッション番号	純度
HY-P75811	HNMT Protein, Human (His)	P50135-1 (M1-A292)	≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-103056	DDD85646		99.72%	Unkown
HY-153021	NMT-IN-1	Inhibitor	98.0%	Unkown
HY-RS06259	HNMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18765	Hnmt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25252	Hnmt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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