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

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: mouse all
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Genomic context

Location:: 17q12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39668019..39670475)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40531584..40534040)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37824272..37826728)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review.
Title: Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review.
The effect of transcutaneous electrical nerve stimulation (TENS) on pain control and phenylethanolamine-N-methyltransferase (PNMT) gene expression after cesarean section.
Title: The effect of transcutaneous electrical nerve stimulation (TENS) on pain control and phenylethanolamine-N-methyltransferase (PNMT) gene expression after cesarean section.
Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications.
Title: Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications.
Epistasis between phenylethanolamine N-methyltransferase and beta2-adrenergic receptor influences extracellular epinephrine level and associates with the susceptibility to allergic asthma.
Title: Epistasis between phenylethanolamine N-methyltransferase and β2-adrenergic receptor influences extracellular epinephrine level and associates with the susceptibility to allergic asthma.
PNMT underexpression is associated with malignant pheochromocytoma and paraganglioma.
Title: Phenylethanolamine N-methyltransferase downregulation is associated with malignant pheochromocytoma/paraganglioma.
initial velocity studies on human PNMT in the absence and presence of product and dead end inhibitors.
Title: Kinetic and pH studies on human phenylethanolamine N-methyltransferase.
The 2-SNP AA haplotype in the PNMT promoter is associated with decreased risk of essential hypertension in Han Chinese.
Title: Phenylethanolamine N-methyltransferase gene promoter haplotypes and risk of essential hypertension.
PNMT G-390A polymorphism is possibly associated with essential hypertension risk in male Chinese Han population.
Title: [Association of genetic polymorphism in phenylethanolamine-N-methyl transferase with essential hypertension in Changsha Han people].
In Caucasians, phenylethanolamine N-methyltransferase single nucleotide polymorphisms are associated with the development of acute kidney injury, disease severity, and in-hospital mortality.
Title: Phenylethanolamine N-methyltransferase gene polymorphisms and adverse outcomes in acute kidney injury.
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.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66625 (e-PCR)
- UniSTS:71999

GDB:178582 (e-PCR)
- UniSTS:155034

RH41770 (e-PCR)
- UniSTS:55459

RH75065 (e-PCR)
- UniSTS:89785

RH71449 (e-PCR)
- UniSTS:64197

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phenylethanolamine N-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phenylethanolamine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables phenylethanolamine N-methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phenylethanolamine N-methyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

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Preferred Names: phenylethanolamine N-methyltransferase

Names: noradrenaline N-methyltransferase; phenylethanolamine N-methylase

NP_002677.1

EC 2.1.1.28

XP_011523211.1

EC 2.1.1.28

XP_054172493.1

EC 2.1.1.28

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_042278.1 RefSeqGene

Range

5473..7495

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002686.4 → NP_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:14 → 279

NNMT_PNMT_TEMT; NNMT/PNMT/TEMT family

RNA

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

39668019..39670475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8MT87

Related

ENSP00000377791.1, ENST00000394246.1

Conserved Domains (1) summary

cl17173
Location:1 → 181

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). ...