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

    Gene ID: 3176, updated on 26-Nov-2016
    Official Symbol
    HNMTprovided by HGNC
    Official Full Name
    histamine N-methyltransferaseprovided by HGNC
    Primary source
    HGNC: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; 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]
    Orthologs
    Location:
    2q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    histamine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    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
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    histamine N-methyltransferase
    NP_001019245.1
    NP_001019246.1
    NP_008826.1

    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
      5001..57127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024074.2NP_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, BC005907
      Consensus CDS
      CCDS33297.1
      UniProtKB/Swiss-Prot
      P50135
      Related
      ENSP00000280096, OTTHUMP00000214277, ENST00000280096, OTTHUMT00000353705
    2. NM_001024075.1NP_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)
      AC093674, AF523357
      Consensus CDS
      CCDS33296.1
      UniProtKB/Swiss-Prot
      P50135
      Related
      ENSP00000333259, OTTHUMP00000204204, ENST00000329366, OTTHUMT00000331844
    3. NM_006895.2NP_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, OTTHUMP00000162547, ENST00000280097, OTTHUMT00000254673
      Conserved Domains (1) summary
      pfam13489
      Location:32217
      Methyltransf_23; Methyltransferase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017003948.1XP_016859437.1  

      Conserved Domains (1) summary
      pfam13489
      Location:2183
      Methyltransf_23; Methyltransferase domain
    2. XM_017003949.1XP_016859438.1  

      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  

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

    RNA

    1. XR_001738735.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      138726296..138778405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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