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    INMT indolethylamine N-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 11185, updated on 5-Mar-2024

    Summary

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    Official Symbol
    INMTprovided by HGNC
    Official Full Name
    indolethylamine N-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:6069
    See related
    Ensembl:ENSG00000241644 MIM:604854; AllianceGenome:HGNC:6069
    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
    TEMT
    Summary
    N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]
    Expression
    Broad expression in lung (RPKM 67.4), adrenal (RPKM 18.7) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INMT in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30752135..30757602)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30889798..30895267)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30791751..30797218)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene corticotropin releasing hormone receptor 2 Neighboring gene uncharacterized LOC124901608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30727952-30728462 Neighboring gene uncharacterized LOC105375220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30747055-30747555 Neighboring gene uncharacterized LOC105375219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30766987-30767488 Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18072 Neighboring gene Sharpr-MPRA regulatory region 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18073 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:30823626-30824126 Neighboring gene MINDY lysine 48 deubiquitinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30893171-30894073 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30901315-30901474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30923659-30924560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30941843-30942646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30942647-30943449 Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30946833-30947332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30948457-30948956 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30961348-30961528 Neighboring gene aquaporin 1 (Colton blood group)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Targeting INMT and interrupting its methylation pathway for the treatment of castration resistant prostate cancer. Zhong S, et al. J Exp Clin Cancer Res, 2021 Sep 29. PMID 34587977, Free PMC Article
    2. Human indole(ethyl)amine-N-methyltransferase (hINMT) catalyzed methylation of tryptamine, dimethylsulfide and dimethylselenide is enhanced under reducing conditions - A comparison between 254C and 254F, two common hINMT variants. Torres B, et al. PLoS One, 2019. PMID 31310642, Free PMC Article
    3. Selenium metabolism to the trimethylselenonium ion (TMSe) varies markedly because of polymorphisms in the indolethylamine N-methyltransferase gene. Kuehnelt D, et al. Am J Clin Nutr, 2015 Dec. PMID 26537946
    4. Potential Association of INMT Nonsynonymous Variant (His46Pro) with Hirschsprung's Disease. Kim JY, et al. Neonatology, 2015. PMID 26183064
    5. Differences in gene expression levels between early and later stages of human lung development are opposite to those between normal lung tissue and non-small lung cell carcinoma. Kopantzev EP, et al. Lung Cancer, 2008 Oct. PMID 18394749

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.
      Title: Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.
    2. Targeting INMT and interrupting its methylation pathway for the treatment of castration resistant prostate cancer.
      Title: Targeting INMT and interrupting its methylation pathway for the treatment of castration resistant prostate cancer.
    3. analysis of 254C and 254F variants of hINMT reveals differences in methylation of tryptamine, dimethylsulfide and dimethylselenide
      Title: Human indole(ethyl)amine-N-methyltransferase (hINMT) catalyzed methylation of tryptamine, dimethylsulfide and dimethylselenide is enhanced under reducing conditions - A comparison between 254C and 254F, two common hINMT variants.
    4. study suggests that rs77743549 of INMT may be associated with the risk for Hirschsprung's disease
      Title: Potential Association of INMT Nonsynonymous Variant (His46Pro) with Hirschsprung's Disease.
    5. genome-wide association studies in populations in Argentina/Bangladeshi: Three SNPs in INMT (rs6970396, rs1061644, rs4270015) are associated with production of trimethylselenonium (TMSe); urinary Se excretion is up-regulated in TMSe-producing women.
      Title: Selenium metabolism to the trimethylselenonium ion (TMSe) varies markedly because of polymorphisms in the indolethylamine N-methyltransferase gene.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough INMT-MINDY4

    Readthrough gene: INMT-MINDY4, Included gene: MINDY4

    Homology

    Clone Names

    • MGC125940, MGC125941

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables S-adenosyl-L-methionine:beta-alanine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables amine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thioether S-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in amine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    indolethylamine N-methyltransferase
    Names
    amine N-methyltransferase
    aromatic alkylamine N-methyltransferase
    arylamine N-methyltransferase
    indolamine N-methyltransferase
    nicotine N-methyltransferase
    thioether S-methyltransferase
    NP_001186148.1
    NP_006765.4

    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

    1. NG_047126.1 RefSeqGene

      Range
      5001..10468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199219.2 → NP_001186148.1  indolethylamine N-methyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AC006022, AK313832, BC033813, DA920005
      Consensus CDS
      CCDS56479.1
      UniProtKB/TrEMBL
      A0A090N7V3, Q3MIB5
      Related
      ENSP00000386961.1, ENST00000409539.1
      Conserved Domains (1) summary
      pfam01234
      Location:4 → 258
      NNMT_PNMT_TEMT; NNMT/PNMT/TEMT family

    2. NM_006774.5 → NP_006765.4  indolethylamine N-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_006765.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC006022, AF128846, BC033813
      Consensus CDS
      CCDS5430.1
      UniProtKB/Swiss-Prot
      B8ZZ69, O95050, Q3KP49, Q9P1Y2, Q9UBY4, Q9UHQ0
      UniProtKB/TrEMBL
      A0A090N7V3, Q3MIB5
      Related
      ENSP00000013222.5, ENST00000013222.5
      Conserved Domains (1) summary
      pfam01234
      Location:4 → 259
      NNMT_PNMT_TEMT; NNMT/PNMT/TEMT family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30752135..30757602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      30889798..30895267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95050.3 GenPept UniProtKB/Swiss-Prot:O95050

    Gene LinkOut

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