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    PNMT phenylethanolamine N-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 5409, updated on 9-Dec-2024

    Summary

    Official Symbol
    PNMTprovided by HGNC
    Official Full Name
    phenylethanolamine N-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:9160
    See related
    Ensembl:ENSG00000141744 MIM:171190; AllianceGenome:HGNC:9160
    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
    PENT; PNMTase
    Summary
    The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
    Expression
    Biased expression in adrenal (RPKM 46.5) and fat (RPKM 2.1) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PNMT in Genome Data Viewer
    Location:
    17q12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39668019..39670475)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40531584..40534040)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37824272..37826728)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12100 Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37810255-37810816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37814469-37815344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12101 Neighboring gene VISTA enhancer hs1769 Neighboring gene titin-cap Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37835782-37836282 Neighboring gene post-GPI attachment to proteins phospholipase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12103 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37845149-37846109 Neighboring gene Sharpr-MPRA regulatory region 353 Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37857299-37857800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37857801-37858300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37861047-37861919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37882556-37883528 Neighboring gene microRNA 4728

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC34570

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in catecholamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in epinephrine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation 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 TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phenylethanolamine N-methyltransferase
    Names
    noradrenaline N-methyltransferase
    phenylethanolamine N-methylase
    NP_002677.1
    XP_011523211.1
    XP_054172493.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_042278.1 RefSeqGene

      Range
      5473..7495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002686.4NP_002677.1  phenylethanolamine N-methyltransferase

      See identical proteins and their annotated locations for NP_002677.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      BC037246
      Consensus CDS
      CCDS11343.1
      UniProtKB/Swiss-Prot
      P11086
      UniProtKB/TrEMBL
      Q6FHD9
      Related
      ENSP00000269582.2, ENST00000269582.3
      Conserved Domains (1) summary
      pfam01234
      Location:14279
      NNMT_PNMT_TEMT; NNMT/PNMT/TEMT family

    RNA

    1. NR_073461.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BC037246, BG394800

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39668019..39670475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524909.3XP_011523211.1  phenylethanolamine N-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A8MT87
      Related
      ENSP00000377791.1, ENST00000394246.1
      Conserved Domains (1) summary
      cl17173
      Location:1181
      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). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40531584..40534040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316518.1XP_054172493.1  phenylethanolamine N-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A8MT87