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Aliases for PNMT Gene

Aliases for PNMT Gene

  • Phenylethanolamine N-Methyltransferase 2 3 5
  • Noradrenaline N-Methyltransferase 3 4
  • EC 2.1.1.28 4 63
  • PNMTase 3 4
  • PENT 3 4
  • Phenylethanolamine N-Methylase 3
  • EC 2.1.1 63

External Ids for PNMT Gene

Previous HGNC Symbols for PNMT Gene

  • PENT

Previous GeneCards Identifiers for PNMT Gene

  • GC17P037324
  • GC17P039822
  • GC17P037734
  • GC17P038199
  • GC17P035078
  • GC17P037824
  • GC17P033618

Summaries for PNMT Gene

Entrez Gene Summary for PNMT Gene

  • 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]

GeneCards Summary for PNMT Gene

PNMT (Phenylethanolamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with PNMT include carbuncle and extra-adrenal pheochromocytoma. Among its related pathways are Metabolism and Tyrosine metabolism. GO annotations related to this gene include methyltransferase activity and phenylethanolamine N-methyltransferase activity. An important paralog of this gene is NNMT.

UniProtKB/Swiss-Prot for PNMT Gene

  • Converts noradrenaline to adrenaline.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNMT Gene

Genomics for PNMT Gene

Regulatory Elements for PNMT Gene

Enhancers for PNMT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PNMT on UCSC Golden Path with GeneCards custom track

Promoters for PNMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PNMT on UCSC Golden Path with GeneCards custom track

Genomic Location for PNMT Gene

Chromosome:
17
Start:
39,667,981 bp from pter
End:
39,670,475 bp from pter
Size:
2,495 bases
Orientation:
Plus strand

Genomic View for PNMT Gene

Genes around PNMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMT Gene

Proteins for PNMT Gene

  • Protein details for PNMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11086-PNMT_HUMAN
    Recommended name:
    Phenylethanolamine N-methyltransferase
    Protein Accession:
    P11086

    Protein attributes for PNMT Gene

    Size:
    282 amino acids
    Molecular mass:
    30855 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PNMT Gene

neXtProt entry for PNMT Gene

Proteomics data for PNMT Gene at MOPED

Selected DME Specific Peptides for PNMT Gene

Post-translational modifications for PNMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNMT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PNMT Gene

Suggested Antigen Peptide Sequences for PNMT Gene

Graphical View of Domain Structure for InterPro Entry

P11086

UniProtKB/Swiss-Prot:

PNMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family.
genes like me logo Genes that share domains with PNMT: view

No data available for Gene Families for PNMT Gene

Function for PNMT Gene

Molecular function for PNMT Gene

GENATLAS Biochemistry:
phenylethanolamine N-methyltransferase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=99 uM for phenylethanolamine {ECO:0000269 PubMed:16363801}; KM=3.4 uM for S-adenosyl-L-methionine {ECO:0000269 PubMed:16363801};
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + phenylethanolamine = S-adenosyl-L-homocysteine + N-methylphenylethanolamine.
UniProtKB/Swiss-Prot Function:
Converts noradrenaline to adrenaline.

Enzyme Numbers (IUBMB) for PNMT Gene

Gene Ontology (GO) - Molecular Function for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with PNMT: view
genes like me logo Genes that share phenotypes with PNMT: view

Animal Models for PNMT Gene

MGI Knock Outs for PNMT:

Animal Model Products

miRNA for PNMT Gene

miRTarBase miRNAs that target PNMT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PNMT Gene

Localization for PNMT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNMT Gene COMPARTMENTS Subcellular localization image for PNMT gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PNMT Gene

Pathways & Interactions for PNMT Gene

genes like me logo Genes that share pathways with PNMT: view

Pathways by source for PNMT Gene

UniProtKB/Swiss-Prot P11086-PNMT_HUMAN

  • Pathway: Catecholamine biosynthesis; (R)-adrenaline biosynthesis; (R)-adrenaline from (R)-noradrenaline: step 1/1.

Interacting Proteins for PNMT Gene

Gene Ontology (GO) - Biological Process for PNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042418 epinephrine biosynthetic process IEA --
GO:0042423 catecholamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with PNMT: view

No data available for SIGNOR curated interactions for PNMT Gene

Drugs & Compounds for PNMT Gene

(33) Drugs for PNMT Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epinephrine Approved Pharma 860
Norepinephrine Approved Pharma 654
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma Target 0
(1R)-2-amino-1-[3-(trifluoromethyl)phenyl]ethanol Experimental Pharma Target 0

(11) Additional Compounds for PNMT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxyphenethylamine
  • 2-Amino-1-phenyl-1-ethanol
  • 2-Amino-1-phenylethanol
  • 2-Amino-1-phenylethanol-1
  • 2-Hydroxy-2-phenylethylamine
  • 2-Phenyl-2-hydroxyethylamine
7568-93-6
N-Methylphenylethanolamine
  • (+-)-alpha-((Methylamino)methyl)benzenemethanol
  • (+-)-Halostachine
  • 2-(Methylamino)-1-phenylethanol
  • 2-Methylamino-1-phenylethanol
  • alpha-((Methylamino)methyl)-dl-Benzyl alcohol
68579-60-2
genes like me logo Genes that share compounds with PNMT: view

Transcripts for PNMT Gene

mRNA/cDNA for PNMT Gene

Unigene Clusters for PNMT Gene

Phenylethanolamine N-methyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PNMT Gene

No ASD Table

Relevant External Links for PNMT Gene

GeneLoc Exon Structure for
PNMT
ECgene alternative splicing isoforms for
PNMT

Expression for PNMT Gene

mRNA expression in normal human tissues for PNMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNMT Gene

This gene is overexpressed in Adrenal Gland (x6.4).

Protein differential expression in normal tissues from HIPED for PNMT Gene

This gene is overexpressed in Adrenal (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PNMT Gene



SOURCE GeneReport for Unigene cluster for PNMT Gene Hs.1892

genes like me logo Genes that share expression patterns with PNMT: view

Protein tissue co-expression partners for PNMT Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PNMT Gene

Orthologs for PNMT Gene

This gene was present in the common ancestor of animals.

Orthologs for PNMT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PNMT 35
  • 88.17 (n)
  • 88.53 (a)
PNMT 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNMT 35
  • 89.14 (n)
  • 88.89 (a)
PNMT 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnmt 35
  • 83.03 (n)
  • 85.3 (a)
Pnmt 16
Pnmt 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNMT 35
  • 99.17 (n)
  • 99.29 (a)
PNMT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnmt 35
  • 82.73 (n)
  • 84.53 (a)
oppossum
(Monodelphis domestica)
Mammalia PNMT 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNMT 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNMT 35
  • 67.84 (n)
  • 65.23 (a)
PNMT 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNMT 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnmt 35
  • 66.02 (n)
  • 63.42 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100332609 35
  • 52.94 (n)
  • 47.45 (a)
worm
(Caenorhabditis elegans)
Secernentea anmt-1 36
  • 22 (a)
ManyToMany
anmt-2 36
  • 26 (a)
ManyToMany
anmt-3 36
  • 20 (a)
ManyToMany
Species with no ortholog for PNMT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNMT Gene

ENSEMBL:
Gene Tree for PNMT (if available)
TreeFam:
Gene Tree for PNMT (if available)

Paralogs for PNMT Gene

Paralogs for PNMT Gene

(3) SIMAP similar genes for PNMT Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PNMT: view

Variants for PNMT Gene

Sequence variations from dbSNP and Humsavar for PNMT Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs5643 - 39,670,366(+) TCGCC(A/T)GGGCT nc-transcript-variant, reference, missense
rs11569781 - 39,668,501(+) CCCCA(A/G)TGCGG intron-variant, upstream-variant-2KB, reference, missense
rs36060376 - 39,669,718(+) ACATC(A/G)CCATG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34530498 - 39,669,760(+) TGGGG(C/T)GCTGG nc-transcript-variant, reference, missense
rs34341496 - 39,670,063(+) TGCCT(A/G)CTGAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PNMT Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV Loss 17160897
dgv3162n71 CNV Loss 21882294
nsv908207 CNV Loss 21882294
nsv457738 CNV Loss 19166990
nsv516757 CNV Loss 19592680
nsv908213 CNV Loss 21882294
nsv528093 CNV Loss 19592680
nsv908214 CNV Loss 21882294
nsv908215 CNV Loss 21882294

Variation tolerance for PNMT Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNMT Gene

HapMap Linkage Disequilibrium report
PNMT
Human Gene Mutation Database (HGMD)
PNMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNMT Gene

Disorders for PNMT Gene

MalaCards: The human disease database

(13) MalaCards diseases for PNMT Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carbuncle
  • carbuncle and furuncle of any part of face except eye
extra-adrenal pheochromocytoma
  • pheochromocytoma, extra-adrenal
multiple endocrine neoplasia
  • multiple endocrine neoplasia type 1
von hippel-lindau syndrome
  • von hippel-lindau syndrome, modifier of
critical illness polyneuropathy
  • polyneuropathy, critical illness
- elite association - COSMIC cancer census association via MalaCards
Search PNMT in MalaCards View complete list of genes associated with diseases

Relevant External Links for PNMT

Genetic Association Database (GAD)
PNMT
Human Genome Epidemiology (HuGE) Navigator
PNMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNMT
genes like me logo Genes that share disorders with PNMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PNMT Gene

Publications for PNMT Gene

  1. Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis. (PMID: 3372503) Kaneda N. … Nagatsu T. (J. Biol. Chem. 1988) 2 3 4 67
  2. Phenylethanolamine N-methyltransferase gene polymorphisms and adverse outcomes in acute kidney injury. (PMID: 20090367) Alam A. … Jaber B.L. (Nephron Clin Pract 2010) 3 23
  3. Conserved regulatory motifs at phenylethanolamine N-methyltransferase (PNMT) are disrupted by common functional genetic variation: an integrated computational/experimental approach. (PMID: 20204374) RodrA-guez-Flores J.L. … O'Connor D.T. (Mamm. Genome 2010) 3 23
  4. Molecular recognition of physiological substrate noradrenaline by the adrenaline-synthesizing enzyme PNMT and factors influencing its methyltransferase activity. (PMID: 19570037) Drinkwater N. … Martin J.L. (Biochem. J. 2009) 3 23
  5. The reaction mechanism of phenylethanolamine N-methyltransferase: a density functional theory study. (PMID: 19733262) Georgieva P. … Himo F. (Biochim. Biophys. Acta 2009) 3 23

Products for PNMT Gene

Sources for PNMT Gene

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