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

Gene ID: 3176, updated on 1-Jun-2020

Summary

Official Symbol
HNMTprovided by HGNC
Official Full Name
histamine N-methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:5028
See related
Ensembl:ENSG00000150540 MIM:605238
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; MRT51; 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]
Expression
Ubiquitous expression in liver (RPKM 20.0), fat (RPKM 16.4) and 24 other tissues See more
Orthologs

Genomic context

See HNMT in Genome Data Viewer
Location:
2q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (137964068..138016364)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (138721808..138773934)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene thrombospondin type 1 domain containing 7B Neighboring gene RNA, 5S ribosomal pseudogene 105 Neighboring gene uncharacterized LOC101928273 Neighboring gene uncharacterized LOC107985948 Neighboring gene uncharacterized LOC105373636 Neighboring gene long intergenic non-protein coding RNA 1832

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
histamine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histamine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
histamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
histidine catabolic process TAS
Traceable Author Statement
more info
 
hyperosmotic response IEA
Inferred from Electronic Annotation
more info
 
methylation IDA
Inferred from Direct Assay
more info
PubMed 
respiratory gaseous exchange TAS
Traceable Author Statement
more info
PubMed 
response to amine IEA
Inferred from Electronic Annotation
more info
 
response to cocaine IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress 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
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
histamine N-methyltransferase
NP_001019245.1
NP_001019246.1
NP_008826.1
XP_011509366.1
XP_016859437.1
XP_016859438.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_012966.1 RefSeqGene

    Range
    5236..57127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024074.3NP_001019245.1  histamine N-methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001019245.1

    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
    Consensus CDS
    CCDS33297.1
    UniProtKB/Swiss-Prot
    P50135
    Related
    ENSP00000280096.5, ENST00000280096.5
  2. NM_001024075.2NP_001019246.1  histamine N-methyltransferase isoform 3

    See identical proteins and their annotated locations for NP_001019246.1

    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)
    AF523357
    Consensus CDS
    CCDS33296.1
    UniProtKB/Swiss-Prot
    P50135
    Related
    ENSP00000333259.4, ENST00000329366.8
  3. NM_006895.3NP_008826.1  histamine N-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_008826.1

    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
    ENSP00000280097.3, ENST00000280097.5
    Conserved Domains (1) summary
    pfam13489
    Location:32217
    Methyltransf_23; Methyltransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    137964068..138016364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003948.1XP_016859437.1  histamine N-methyltransferase isoform X1

    Conserved Domains (1) summary
    pfam13489
    Location:2183
    Methyltransf_23; Methyltransferase domain
  2. XM_017003949.2XP_016859438.1  histamine N-methyltransferase isoform X3

    UniProtKB/TrEMBL
    B4DWC1
    Conserved Domains (1) summary
    cl17173
    Location:32148
    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). ...
  3. XM_011511064.2XP_011509366.1  histamine N-methyltransferase isoform X2

    Conserved Domains (1) summary
    pfam13489
    Location:191
    Methyltransf_23; Methyltransferase domain

RNA

  1. XR_002959286.1 RNA Sequence

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