HNMT histamine N-methyltransferase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: HNMTprovided by HGNC
Official Full Name: histamine N-methyltransferaseprovided by HGNC
Primary source: HGNC:5028
See related: Ensembl:ENSG00000150540; HPRD:05575; MIM:605238; Vega:OTTHUMG00000131751
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HMT; HNMT-S1; HNMT-S2
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]

Genomic context

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Location :: 2q22.1

Sequence :: Chromosome: 2; NC_000002.11 (138721808..138773934)

See HNMT in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The results of this study indicated that Histamine N-methyltransferase Thr105Ile polymorphism is associated Parkinson's disease.
Title: Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease.
Lack of the association of HNMT Thr105Ile functional polymorphism with Alzheimer's disease is found.
Title: No association between histamine N-methyltransferase functional polymorphism Thr105Ile and Alzheimer's disease.
our results suggest that, despite the possible role of histamine in the inflammatory processes related with the pathogenesis of MS, HNMT polymorphism is not related with the risk for MS in Caucasian Spanish people
Title: Histamine-N-methyl transferase polymorphism and risk for multiple sclerosis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
This study do not support the HNMT Thr105Ile variant as a factor in disease development or a genetic link between the disorders.
Title: Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor.
These results, combined with previous findings indicating alterations in the frequency for the HNMT Thr105Ile polymorphism in patients with PD, suggest that alterations of histamine homeostasis in the SNC are associated with risk of movement disorders.
Title: The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor.
The 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.
Title: Histamine N-methyltransferase 939A>G polymorphism affects mRNA stability in patients with acetylsalicylic acid-intolerant chronic urticaria.
Increased histamine levels in patients with atopic dermatitis may result, at least in part, from reduced enzymatic inactivation via HNMT.
Title: Association of the histamine N-methyltransferase C314T (Thr105Ile) polymorphism with atopic dermatitis in Caucasian children.
histamine N-methyltransferase is not related with the risk for migraine.
Title: Histamine-N-methyl transferase polymorphism and risk for migraine.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.

Submit: New GeneRIF Correction See all (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:109418	BioGRID:107267	CAMK2D	BioGRID	PubMed	Two-hybrid
BioGRID:109418	BioGRID:108166	DSP	BioGRID	PubMed	Co-fractionation
BioGRID:109418	BioGRID:117417	POT1	BioGRID	PubMed	Two-hybrid
BioGRID:109418	BioGRID:112872	TERF1	BioGRID	PubMed	Two-hybrid
BioGRID:109418	BioGRID:117660	TINF2	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Histidine metabolism, organism-specific biosystem (from KEGG)
Histidine metabolism, organism-specific biosystem
Histidine metabolism
Histidine metabolism, conserved biosystem (from KEGG)
Histidine metabolism, conserved biosystem
Histidine metabolism
histamine degradation, organism-specific biosystem (from BIOCYC)
histamine degradation, organism-specific biosystemGeneral Background : HISTAMINE is a biologically active diamine with important roles; it is involved in the immune response, gastric secretion, neurotransmission and cell growth. : HISTAMINE metabo...
histamine degradation, conserved biosystem (from BIOCYC)
histamine degradation, conserved biosystemGeneral Background |FRAME: HISTAMINE| is a biologically active diamine with important roles in animals. In mammals it is involved in the immune response, gastric secretion, neurotransmission and ce...
metapathway biotransformation, organism-specific biosystem (from WikiPathways)
metapathway biotransformation, organism-specific biosystem
metapathway biotransformation

General gene information

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Markers

STS-AA036662 (e-PCR)
- UniSTS:80389

RH68885 (e-PCR)
- UniSTS:52490

RH70639 (e-PCR)
- UniSTS:59707

D2S2054 (e-PCR)
- UniSTS:3449

RH80835 (e-PCR)
- UniSTS:86231

Genotypes

See HNMT SNP Geneview Report
See HNMT SNP Genotype Report
See HNMT SNP Variation Viewer Report

Homology

Homologs of the HNMT gene: The HNMT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
histamine N-methyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation more info
hyperosmotic response	IEA Inferred from Electronic Annotation more info
respiratory gaseous exchange	TAS Traceable Author Statement more info	PubMed
response to amine stimulus	IEA Inferred from Electronic Annotation more info
response to cocaine	IEA Inferred from Electronic Annotation more info
response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
response to interleukin-1	IEA Inferred from Electronic Annotation more info
response to tumor cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
neuron projection	IEA Inferred from Electronic Annotation more info
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: histamine N-methyltransferase

Names: histamine N-methyltransferase

NP_001019245.1

EC 2.1.1.8

NP_001019246.1

EC 2.1.1.8

NP_008826.1

EC 2.1.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012966.1 RefSeqGene

Range

5001..57127

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001024074.2 → NP_001019245.1 histamine N-methyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. This transcript is supported by multiple mRNAs and ESTs, but the predicted ORF has not yet been experimentally confirmed.

Source sequence(s)

AC093674, BC005907

Consensus CDS

CCDS33297.1

UniProtKB/Swiss-Prot

P50135
NM_001024075.1 → NP_001019246.1 histamine N-methyltransferase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3), also called HNMT-S, includes an alternate exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC093674, AF523357

Consensus CDS

CCDS33296.1

UniProtKB/Swiss-Prot

P50135

Related

ENSP00000333259, OTTHUMP00000204204, ENST00000329366, OTTHUMT00000331844
NM_006895.2 → NP_008826.1 histamine N-methyltransferase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

AA935821, AC093674, AF523358, AF523360

Consensus CDS

CCDS2181.1

UniProtKB/Swiss-Prot

P50135

Related

ENSP00000280097, OTTHUMP00000162547, ENST00000280097, OTTHUMT00000254673

Conserved Domains (2) summary

cd02440
Location:55 – 173
Blast Score: 103

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

pfam13489
Location:32 – 216
Blast Score: 190

Methyltransf_23; Methyltransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

138721808..138773934

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

130713418..130765454

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

138221417..138273536

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB041388.1	BAA94473.1
genomic	ABBA01028130.1 (46365..91408)	None
genomic	ABBA01028131.1	None
genomic	AC093674.2	AAY24212.1
genomic	AMYH01011129.1 (358422..410541)	None
genomic	CH471058.2	EAX11612.1
		EAX11613.1
		EAX11614.1
genomic	U44111.1	AAB18137.1
mRNA	AA935821.1	None
mRNA	AF523356.1	AAN33014.1
mRNA	AF523357.1	AAN33015.1
mRNA	AF523358.1	AAN33016.1
mRNA	AF523359.1	AAN33017.1
mRNA	AF523360.1	AAN33018.1
mRNA	AK301462.1	BAG62983.1
mRNA	AK313804.1	BAG36540.1
mRNA	BC005907.1	AAH05907.1
mRNA	BC020677.1	AAH20677.1
mRNA	D16224.1	BAA03752.1
mRNA	U08092.1	AAA17423.1
other-genetic	DQ891166.2	ABM82092.1
other-genetic	DQ894348.2	ABM85274.1