Pnmt phenylethanolamine-N-methyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnmtprovided by MGI
Official Full Name: phenylethanolamine-N-methyltransferaseprovided by MGI
Primary source: MGI:MGI:97724
See related: Ensembl:ENSMUSG00000038216 AllianceGenome:MGI:97724
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pent
Summary: Predicted to enable phenylethanolamine N-methyltransferase activity. Predicted to be involved in epinephrine biosynthetic process and norepinephrine metabolic process. Predicted to act upstream of or within catecholamine biosynthetic process and methylation. Predicted to be located in several cellular components, including axon; dendrite; and perikaryon. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; brain; gonad; and metanephros. Human ortholog(s) of this gene implicated in Alzheimer's disease; hypertension; and multiple sclerosis. Orthologous to human PNMT (phenylethanolamine N-methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward adrenal adult (RPKM 262.6) See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 61.75 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (98277449..98279006)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (98386623..98388180)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that Pnmt plays role in fear response and startle reactivity; compared with wild-type mice, Pnmt-knockout mice exhibit reduced contextual fear but normal cued fear.
Title: Impaired conditioned fear response and startle reactivity in epinephrine-deficient mice.
Although temperature was normal in Pnmt(-/-) mice, the brown fat response to cold was abnormal with no increase in Ucp-1 or Pgc-1alpha mRNA levels (but with an exaggerated cold-induced lipid loss from the tissue).
Title: Effect of epinephrine deficiency on cold tolerance and on brown adipose tissue.
Neuronal nitric oxide synthase gene inactivation reduces the expression of vasopressin in the hypothalamic paraventricular nucleus and of PNMT in the adrenal gland of the mouse.
Title: Neuronal nitric oxide synthase gene inactivation reduces the expression of vasopressin in the hypothalamic paraventricular nucleus and of catecholamine biosynthetic enzymes in the adrenal gland of the mouse.
Epinephrine is required for normal blood pressure and cardiac filling responses to stress but is not required for tachycardia during stress or normal cardiovascular function at rest in the knockout mouse.
Title: Epinephrine is required for normal cardiovascular responses to stress in the phenylethanolamine N-methyltransferase knockout mouse.
A truncated mouse phenylethanolamine N-methyltransferase splice variant has dominant-negative activity
Title: A truncated mouse phenylethanolamine N-methyltransferase splice variant with dominant-negative activity.
clear, significant increase in aggression arising from PNMT overexpression
Title: PNMT transgenic mice have an aggressive phenotype.
surprisingly high levels of the epinephrine synthesizing enzyme phenylethanolamine N-methyl transferase (PNMT) were detected in the thymus of young mice.
Title: Phenylethanolamine N-methyl transferase expression in mouse thymus and spleen.
PNMT expression is regulated late in mouse gestation by AP2-alpha and glucocorticoids
Title: Reduction of adrenal and kidney epinephrine and phenylethanolamine N-methyltransferase in AP-2 knockout mouse fetuses.
Glucocorticoid receptors form multimers of Pmnt independent of the DNA binding domain.
Title: Homodimerization of the glucocorticoid receptor is not essential for response element binding: activation of the phenylethanolamine N-methyltransferase gene by dimerization-defective mutants.
Regulation of the PNMT gene expression in various compartments of heart includes both corticosterone-dependent and independent mechanisms.
Title: Gene expression of phenylethanolamine N-methyltransferase in corticotropin-releasing hormone knockout mice during stress exposure.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:491268

AI503981 (e-PCR)
- UniSTS:160155

L12687 (e-PCR)
- UniSTS:124875

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables methyltransferase activity	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within catecholamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in epinephrine biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within methylation	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info
located_in varicosity	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phenylethanolamine N-methyltransferase

Names: PNMTase; noradrenaline N-methyltransferase

NP_032916.1

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.