AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] See more...

Aliases for AS3MT Gene

Aliases for AS3MT Gene

  • Arsenite Methyltransferase 2 3 4 5
  • CYT19 2 3 4
  • S-Adenosyl-L-Methionine:Arsenic(III) Methyltransferase 3 4
  • Arsenic (+3 Oxidation State) Methyltransferase 2 3
  • Methylarsonite Methyltransferase 3 4
  • S-Adenosylmethionine:Arsenic (III) Methyltransferase 3
  • Methyltransferase Cyt19 3
  • EC 2.1.1.137 4
  • AS3MT 5

External Ids for AS3MT Gene

Previous GeneCards Identifiers for AS3MT Gene

  • GC10P104294
  • GC10P104606
  • GC10P104621
  • GC10P104603
  • GC10P104623
  • GC10P104624
  • GC10P098263
  • GC10P104629

Summaries for AS3MT Gene

Entrez Gene Summary for AS3MT Gene

  • AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]

GeneCards Summary for AS3MT Gene

AS3MT (Arsenite Methyltransferase) is a Protein Coding gene. Diseases associated with AS3MT include Myopathy, Myosin Storage, Autosomal Dominant and Hyaline Body Myopathy. Among its related pathways are Cytochrome P450 - arranged by substrate type and arsenate detoxification I (glutaredoxin). Gene Ontology (GO) annotations related to this gene include methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. An important paralog of this gene is METTL7A.

UniProtKB/Swiss-Prot Summary for AS3MT Gene

  • Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655).

Gene Wiki entry for AS3MT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AS3MT Gene

Genomics for AS3MT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AS3MT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J102868 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 654.3 +0.3 331 2 HNRNPL GATAD2A PRDM10 REST NFKBIZ PRDM1 RBFOX2 POLR2A IRF2 ZNF501 AS3MT ENSG00000283337 WBP1L MN297007 BORCS7-ASMT CNNM2
GH10J102876 Promoter 0.8 EPDnew 600.4 +7.5 7472 0.1 GATAD2A REST SP1 SOX13 FOXA2 YY1 TEAD1 HHEX CREM FOXP1 AS3MT MN297007 BORCS7-ASMT CNNM2
GH10J102878 Promoter 0.3 EPDnew 600.4 +8.9 8905 0.1 AS3MT MN297007 BORCS7-ASMT CNNM2
GH10J102853 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 55.7 -14.3 -14293 3.2 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 TFE3 RFX1 SIX5 BORCS7 BORCS7-ASMT ENSG00000282772 AS3MT PDCD11 TAF5 GBF1 LDB1 NOLC1 RPEL1
GH10J102916 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 47.4 +49.8 49831 6.2 BRCA1 SP1 CREB1 CTCF TEAD4 ZNF629 TFE3 SIX5 IKZF1 NFKBIZ CNNM2 ENSG00000286575 LOC107984265 AS3MT ENSG00000260461 NOLC1 PPRC1 TAF5 PDCD11 BORCS7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AS3MT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AS3MT

Top Transcription factor binding sites by QIAGEN in the AS3MT gene promoter:
  • c-Myb
  • C/EBPalpha
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXO3

Genomic Locations for AS3MT Gene

Genomic Locations for AS3MT Gene
chr10:102,869,470-102,901,899
(GRCh38/hg38)
Size:
32,430 bases
Orientation:
Plus strand
chr10:104,629,210-104,661,656
(GRCh37/hg19)
Size:
32,447 bases
Orientation:
Plus strand

Genomic View for AS3MT Gene

Genes around AS3MT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AS3MT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AS3MT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AS3MT Gene

Proteins for AS3MT Gene

  • Protein details for AS3MT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBK9-AS3MT_HUMAN
    Recommended name:
    Arsenite methyltransferase
    Protein Accession:
    Q9HBK9
    Secondary Accessions:
    • A6NP79
    • Q0VDK3
    • Q0VDK4
    • Q5PZ02

    Protein attributes for AS3MT Gene

    Size:
    375 amino acids
    Molecular mass:
    41748 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG09731.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Devoid of methyltransferase activity.

    Alternative splice isoforms for AS3MT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AS3MT Gene

Post-translational modifications for AS3MT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AS3MT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for AS3MT
  • Boster Bio Antibodies for AS3MT

No data available for DME Specific Peptides for AS3MT Gene

Domains & Families for AS3MT Gene

Gene Families for AS3MT Gene

Protein Domains for AS3MT Gene

InterPro:
Blocks:
  • Methyltransferase type 11
ProtoNet:

Suggested Antigen Peptide Sequences for AS3MT Gene

GenScript: Design optimal peptide antigens:
  • S-adenosyl-L-methionine:arsenic(III) methyltransferase (AS3MT_HUMAN)
  • AS3MT protein (Q0VDK3_HUMAN)
  • AS3MT protein (Q0VDK4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBK9

UniProtKB/Swiss-Prot:

AS3MT_HUMAN :
  • Belongs to the methyltransferase superfamily. Arsenite methyltransferase family.
Family:
  • Belongs to the methyltransferase superfamily. Arsenite methyltransferase family.
genes like me logo Genes that share domains with AS3MT: view

Function for AS3MT Gene

Molecular function for AS3MT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=arsenite + S-adenosyl-L-methionine = H(+) + methylarsonate + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:15293, ChEBI:CHEBI:15378, ChEBI:CHEBI:29242, ChEBI:CHEBI:33409, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789; EC=2.1.1.137; Evidence={ECO:0000269|PubMed:16407288, ECO:0000269|PubMed:25997655};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=methylarsonous acid + S-adenosyl-L-methionine = dimethylarsinate + 2 H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:11684, ChEBI:CHEBI:15378, ChEBI:CHEBI:16223, ChEBI:CHEBI:17826, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789; EC=2.1.1.137; Evidence={ECO:0000269|PubMed:16407288, ECO:0000269|PubMed:25997655};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.6 uM for sodium arsenite {ECO:0000269|PubMed:16407288}; KM=11.8 uM for AdoMet {ECO:0000269|PubMed:16407288};

Enzyme Numbers (IUBMB) for AS3MT Gene

Phenotypes From GWAS Catalog for AS3MT Gene

Gene Ontology (GO) - Molecular Function for AS3MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0030791 arsenite methyltransferase activity TAS --
GO:0030792 methylarsonite methyltransferase activity IDA 25997655
genes like me logo Genes that share ontologies with AS3MT: view
genes like me logo Genes that share phenotypes with AS3MT: view

Animal Models for AS3MT Gene

MGI Knock Outs for AS3MT:

Animal Model Products

  • Taconic Biosciences Mouse Models for AS3MT

CRISPR Products

miRNA for AS3MT Gene

miRTarBase miRNAs that target AS3MT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AS3MT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AS3MT Gene

Localization for AS3MT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AS3MT Gene

Cytoplasm, cytosol.

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 AS3MT gene
Compartment Confidence
cytosol 4
nucleus 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AS3MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AS3MT: view

Pathways & Interactions for AS3MT Gene

genes like me logo Genes that share pathways with AS3MT: view

Pathways by source for AS3MT Gene

1 BioSystems pathway for AS3MT Gene
1 Qiagen pathway for AS3MT Gene
  • Aldosterone Signaling in Epithelial Cells

Interacting Proteins for AS3MT Gene

Selected Interacting proteins: Q9HBK9-AS3MT_HUMAN for AS3MT Gene via IID

Gene Ontology (GO) - Biological Process for AS3MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009404 toxin metabolic process IBA,IDA 25997655
GO:0018872 arsonoacetate metabolic process IDA 25997655
GO:0032259 methylation TAS --
genes like me logo Genes that share ontologies with AS3MT: view

No data available for SIGNOR curated interactions for AS3MT Gene

Drugs & Compounds for AS3MT Gene

(3) Drugs for AS3MT Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ademetionine Approved, Investigational Nutra Target 0
Methionine Approved Nutra 118
s-adenosylhomocysteine Experimental Pharma 0

(8) Additional Compounds for AS3MT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
arsenite
  • [As(OH)3]
  • Arsenic trioxide
  • Arsorous acid
  • As(OH)3
  • H3AsO3
15502-74-6
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
Arsenic
  • As(3+)
  • Arsen
  • Arsenic black
  • Arsenic elemental
  • As
7440-38-2
Dimethylarsinate
  • [As(CH3)2O(OH)]
  • CACODYLIC ACID
  • Kakodylsaeure
  • Me2as(=o)OH
  • Dimethylarsinic acid
15132-04-4
Methylarsonate
  • MAA
  • measo(OH)2
  • Methanearsonic acid
  • Monomethylarsonic acid
  • Methylarsonic acid
124-58-3
genes like me logo Genes that share compounds with AS3MT: view

Transcripts for AS3MT Gene

mRNA/cDNA for AS3MT Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AS3MT

Alternative Splicing Database (ASD) splice patterns (SP) for AS3MT Gene

No ASD Table

Relevant External Links for AS3MT Gene

GeneLoc Exon Structure for
AS3MT

Expression for AS3MT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AS3MT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AS3MT Gene

This gene is overexpressed in Adrenal Gland (x30.7).

Protein differential expression in normal tissues from HIPED for AS3MT Gene

This gene is overexpressed in Adrenal (40.6), Cerebrospinal fluid (7.3), Fetal testis (6.8), and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AS3MT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AS3MT

SOURCE GeneReport for Unigene cluster for AS3MT Gene:

Hs.720370

Evidence on tissue expression from TISSUES for AS3MT Gene

  • Liver(4.6)
  • Adrenal gland(2.6)
  • Urine(2.6)
  • Heart(2.5)
  • Kidney(2.5)
  • Muscle(2.4)
  • Intestine(2.4)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with AS3MT: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AS3MT Gene

Orthologs for AS3MT Gene

This gene was present in the common ancestor of chordates.

Orthologs for AS3MT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AS3MT 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AS3MT 30
  • 88.05 (n)
Cow
(Bos Taurus)
Mammalia AS3MT 30 31
  • 87.9 (n)
OneToMany
-- 31
  • 71 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia As3mt 30 17 31
  • 81.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia As3mt 30
  • 80.49 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AS3MT 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AS3MT 30 31
  • 63.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AS3MT 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia as3mt 30
  • 64.72 (n)
Zebrafish
(Danio rerio)
Actinopterygii as3mt 30 31
  • 60.98 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9677 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5398 31
  • 51 (a)
OneToMany
-- 31
  • 44 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12976 30
Species where no ortholog for AS3MT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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 AS3MT Gene

ENSEMBL:
Gene Tree for AS3MT (if available)
TreeFam:
Gene Tree for AS3MT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AS3MT: view image

Paralogs for AS3MT Gene

Paralogs for AS3MT Gene

genes like me logo Genes that share paralogs with AS3MT: view

Variants for AS3MT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AS3MT Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
768385 Benign: not provided 102,870,074(+) G/T INTRON_VARIANT
rs11191439 - p.Met287Thr
rs34556438 - p.Thr306Ile
rs35232887 - p.Arg173Trp

Additional dbSNP identifiers (rs#s) for AS3MT Gene

Structural Variations from Database of Genomic Variants (DGV) for AS3MT Gene

Variant ID Type Subtype PubMed ID
esv1651901 CNV deletion 17803354
esv2489056 CNV deletion 19546169
esv2740239 CNV deletion 23290073
esv2740251 CNV deletion 23290073
esv3546767 CNV deletion 23714750
esv3624404 CNV loss 21293372
nsv1069070 CNV deletion 25765185
nsv1147211 CNV deletion 26484159
nsv948172 CNV duplication 23825009

Variation tolerance for AS3MT Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AS3MT Gene

Human Gene Mutation Database (HGMD)
AS3MT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AS3MT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AS3MT Gene

Disorders for AS3MT Gene

MalaCards: The human disease database

(5) MalaCards diseases for AS3MT Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AS3MT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AS3MT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AS3MT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AS3MT Gene

Publications for AS3MT Gene

  1. Low 8-oxo-7,8-dihydro-2'-deoxyguanosine levels and influence of genetic background in an Andean population exposed to high levels of arsenic. (PMID: 19896490) Engström KS … Broberg K (Mutation research 2010) 3 23 41
  2. Global analysis of genetic variation in human arsenic (+3 oxidation state) methyltransferase (AS3MT). (PMID: 19932709) Fujihara J … Takeshita H (Toxicology and applied pharmacology 2010) 3 23 41
  3. Ethnic differences in five intronic polymorphisms associated with arsenic metabolism within human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene. (PMID: 18976679) Fujihara J … Takeshita H (Toxicology and applied pharmacology 2009) 3 23 41
  4. Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions. (PMID: 18682255) Schläwicke Engström K … Broberg K (Mutation research 2009) 3 23 41
  5. Association of AS3MT polymorphisms and the risk of premalignant arsenic skin lesions. (PMID: 19538983) Valenzuela OL … Del Razo LM (Toxicology and applied pharmacology 2009) 3 23 41

Products for AS3MT Gene

Sources for AS3MT Gene