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Aliases for HNMT Gene

Aliases for HNMT Gene

  • Histamine N-Methyltransferase 2 3 5
  • EC 2.1.1.8 4 61
  • HMT 3 4
  • HNMT-S1 3
  • HNMT-S2 3
  • MRT51 3

External Ids for HNMT Gene

Previous GeneCards Identifiers for HNMT Gene

  • GC02P136386
  • GC02P137029
  • GC02P138744
  • GC02P138932
  • GC02P138555
  • GC02P138438
  • GC02P130713

Summaries for HNMT Gene

Entrez Gene Summary for HNMT Gene

  • In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for HNMT Gene

HNMT (Histamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with HNMT include Mental Retardation, Autosomal Recessive 51 and Asthma. Among its related pathways are Histidine metabolism and Viral mRNA Translation. GO annotations related to this gene include N-methyltransferase activity and histamine N-methyltransferase activity.

UniProtKB/Swiss-Prot for HNMT Gene

  • Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine.

Tocris Summary for HNMT Gene

  • Protein arginine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the arginine residues on histones and other proteins. The dysregulation of this methylation is critical in the development of certain cancers.

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNMT Gene

Genomics for HNMT Gene

Regulatory Elements for HNMT Gene

Enhancers for HNMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G137939 1 ENCODE 20.7 -21.3 -21313 6.7 HNRNPUL1 FOXA2 MLX DMAP1 ZNF48 YY1 TCF12 FOS PAF1 SP5 HNMT SPOPL LOC101928273
GH02G137951 1.4 FANTOM5 Ensembl ENCODE 7.6 -11.5 -11481 1.7 HDAC1 ELF3 SIN3A ZBTB40 ZNF766 FOS RELB ELF4 CEBPB NCOA1 HNMT SPOPL LOC101928273
GH02G138028 1 Ensembl ENCODE 10.5 +64.4 64448 0.9 HDAC1 SMARCE1 JUNB MNT EP300 YY1 ARID1B TCF12 HDAC2 IKZF1 HNMT LOC105373636
GH02G138071 1 ENCODE 10.3 +108.2 108213 2.0 PKNOX1 SIN3A FEZF1 BRCA1 ZNF2 FOS SP3 TSHZ1 REST ZNF623 HNMT LOC105373636 LINC01832
GH02G138035 0.9 Ensembl ENCODE 11.2 +72.0 71981 0.8 TBP PKNOX1 CEBPB CEBPG DPF2 EP300 GATA3 CTBP1 PBX2 CREB1 HNMT LOC105373636
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HNMT on UCSC Golden Path with GeneCards custom track

Promoters for HNMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000123627 1480 2601 HNRNPUL1 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 FOS DEK PAF1

Genomic Location for HNMT Gene

Chromosome:
2
Start:
137,964,020 bp from pter
End:
138,016,364 bp from pter
Size:
52,345 bases
Orientation:
Plus strand

Genomic View for HNMT Gene

Genes around HNMT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HNMT Gene

Proteins for HNMT Gene

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

    Protein Symbol:
    P50135-HNMT_HUMAN
    Recommended name:
    Histamine N-methyltransferase
    Protein Accession:
    P50135
    Secondary Accessions:
    • B2R9J3
    • Q546Z6
    • Q7Z7I2
    • Q8IU56
    • Q8WW98
    • Q9BRW6

    Protein attributes for HNMT Gene

    Size:
    292 amino acids
    Molecular mass:
    33295 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for HNMT Gene

    Alternative splice isoforms for HNMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNMT Gene

Selected DME Specific Peptides for HNMT Gene

P50135:
  • VEPSAEQI
  • KKEGKVLFNN
  • STEHQCMQEFMDKKLPGII
  • WHKETSSEYQ
  • DFLTETC
  • LSIGGGAGE
  • DLQILSKVQAQYPG
  • DFIHMIQMLYYV

Post-translational modifications for HNMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for HNMT (Histamine N-Methyltransferase/HNMT)
  • Abcam antibodies for HNMT
  • Santa Cruz Biotechnology (SCBT) Antibodies for HNMT

Domains & Families for HNMT Gene

Protein Domains for HNMT Gene

Suggested Antigen Peptide Sequences for HNMT Gene

Graphical View of Domain Structure for InterPro Entry

P50135

UniProtKB/Swiss-Prot:

HNMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. HNMT family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. HNMT family.
genes like me logo Genes that share domains with HNMT: view

Function for HNMT Gene

Molecular function for HNMT Gene

GENATLAS Biochemistry:
histamine N-methyltransferase,S-adenosyl-L-methionine dependent cytosolic enzyme
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.47 uM for histamine (at pH 8.0 and 25 degrees Celsius) {ECO:0000269 PubMed:26206890};
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + histamine = S-adenosyl-L-homocysteine + N(tau)-methylhistamine.
UniProtKB/Swiss-Prot Function:
Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine.

Enzyme Numbers (IUBMB) for HNMT Gene

Gene Ontology (GO) - Molecular Function for HNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0008170 N-methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0046539 histamine N-methyltransferase activity TAS --
genes like me logo Genes that share ontologies with HNMT: view
genes like me logo Genes that share phenotypes with HNMT: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HNMT Gene

Localization for HNMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNMT Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNMT gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 26206890
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HNMT: view

Pathways & Interactions for HNMT Gene

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

Gene Ontology (GO) - Biological Process for HNMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001695 histamine catabolic process IDA 26206890
GO:0002347 response to tumor cell IEA --
GO:0006548 histidine catabolic process TAS --
GO:0006972 hyperosmotic response IEA --
GO:0007420 brain development IBA --
genes like me logo Genes that share ontologies with HNMT: view

No data available for SIGNOR curated interactions for HNMT Gene

Drugs & Compounds for HNMT Gene

(19) Drugs for HNMT Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amodiaquine Approved Pharma Target, inhibitor 99
Histamine Approved, Investigational Pharma Full agonist, Agonist, Enzyme, substrate 1050
Quinacrine Approved Pharma Enzyme, inhibitor 6
Chlorhexidine Approved, Vet_approved Pharma Enzyme, inhibitor 499
S-Adenosylmethionine Approved Nutra 0

(10) Additional Compounds for HNMT Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Methylhistamine
  • 1-Methyl-1H-imidazole-4-ethanamine
  • 1-Methyl-4-(2-aminoethyl)imidazole
  • 1-Methyl-4-(b-aminoethyl)imidazole
  • 1-Methyl-4-(beta-aminoethyl)imidazole
  • 1-Methyl-4-histamine
501-75-7
Furamidine dihydrochloride
55368-40-6
MS 023 dihydrochloride
SGC 707
XY1
1624117-53-8

(5) Tocris Compounds for HNMT Gene

Compound Action Cas Number
Furamidine dihydrochloride Selective PRMT1 inhibitor 55368-40-6
MS 023 dihydrochloride Potent and selective type I PRMT inhibitor
SGC 707 Potent and selective allosteric inhibitor of PRMT3
TC-E 5003 Selective PRMT1 inhibitor 17328-16-4
XY1 Negative control of SGC 707 (Cat. No. 5367) 1624117-53-8

(1) ApexBio Compounds for HNMT Gene

Compound Action Cas Number
SKF 91488 dihydrochloride 68941-21-9
genes like me logo Genes that share compounds with HNMT: view

Transcripts for HNMT Gene

Unigene Clusters for HNMT Gene

Histamine N-methyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2: -
SP3: - - -
SP4: -
SP5: - -

Relevant External Links for HNMT Gene

GeneLoc Exon Structure for
HNMT
ECgene alternative splicing isoforms for
HNMT

Expression for HNMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HNMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HNMT Gene

This gene is overexpressed in Uterus (9.8) and Spleen (6.6).

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



Protein tissue co-expression partners for HNMT Gene

NURSA nuclear receptor signaling pathways regulating expression of HNMT Gene:

HNMT

SOURCE GeneReport for Unigene cluster for HNMT Gene:

Hs.42151

Evidence on tissue expression from TISSUES for HNMT Gene

  • Nervous system(4.6)
  • Kidney(4.5)
  • Liver(4.5)
  • Lung(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with HNMT: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNMT Gene

Orthologs for HNMT Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HNMT 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia HNMT 34 35
  • 90.53 (n)
cow
(Bos Taurus)
Mammalia HNMT 34 35
  • 89.38 (n)
mouse
(Mus musculus)
Mammalia Hnmt 34 16 35
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Hnmt 34
  • 86.3 (n)
oppossum
(Monodelphis domestica)
Mammalia HNMT 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HNMT 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves HNMT 34 35
  • 67.58 (n)
lizard
(Anolis carolinensis)
Reptilia HNMT 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hnmt 34
  • 61.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia hnmt-prov 34
zebrafish
(Danio rerio)
Actinopterygii hnmt 34 35
  • 55.37 (n)
Dr.17340 34
Species where no ortholog for HNMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HNMT Gene

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

Paralogs for HNMT Gene

No data available for Paralogs for HNMT Gene

Variants for HNMT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HNMT Gene

HNMT_HUMAN-P50135
Variant Ile-105 has a reduced activity and seems to be linked with a predisposition to asthma.

Sequence variations from dbSNP and Humsavar for HNMT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs745756308 Pathogenic, Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739] 138,013,874(+) GATGC(C/T)GGACA intron-variant, nc-transcript-variant, reference, missense
rs758252808 Pathogenic, Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739] 137,970,206(+) CATAG(A/G)CGGAG intron-variant, nc-transcript-variant, reference, missense
rs11558538 other 138,002,079(+) CAAGA(C/T)ATCGA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000046703 -- 137,976,053(+) CCTGA(G/T)GTCAG intron-variant
rs1000099050 -- 138,004,735(+) GTTCC(A/G)TGAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2513921 CNV deletion 19546169
esv2671408 CNV deletion 23128226
esv34124 CNV loss 18971310
nsv583180 CNV gain 21841781
nsv583182 CNV loss 21841781
nsv7329 OTHER inversion 18451855

Variation tolerance for HNMT Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.01; 68.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HNMT Gene

Human Gene Mutation Database (HGMD)
HNMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNMT

Disorders for HNMT Gene

MalaCards: The human disease database

(13) MalaCards diseases for HNMT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 51
  • mrt51
asthma
  • asthma, protection against
asthma susceptibility, hnmt related
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
heel spur
  • calcaneal spur
- elite association - COSMIC cancer census association via MalaCards
Search HNMT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HNMT_HUMAN
  • Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:26206890}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Relevant External Links for HNMT

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

No data available for Genatlas for HNMT Gene

Publications for HNMT Gene

  1. Histamine N-methyltransferase pharmacogenetics: association of a common functional polymorphism with asthma. (PMID: 10803682) Yan L. … Weinshilboum R.M. (Pharmacogenetics 2000) 3 4 22 46 64
  2. Histamine-N-methyl transferase polymorphism and risk for multiple sclerosis. (PMID: 19538200) GarcA-a-MartA-n E. … JimAcnez-JimAcnez F.J. (Eur. J. Neurol. 2010) 3 22 46 64
  3. Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor. (PMID: 19773194) Keeling B.H. … Farrer M.J. (Parkinsonism Relat. Disord. 2010) 3 22 46 64
  4. Histamine N-methyltransferase 939A>G polymorphism affects mRNA stability in patients with acetylsalicylic acid-intolerant chronic urticaria. (PMID: 19178400) Kim S.H. … Park H.S. (Allergy 2009) 3 22 46 64
  5. Association of the histamine N-methyltransferase C314T (Thr105Ile) polymorphism with atopic dermatitis in Caucasian children. (PMID: 19025430) Kennedy M.J. … Hein D.W. (Pharmacotherapy 2008) 3 22 46 64

Products for HNMT Gene

Sources for HNMT Gene

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