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Aliases for AS3MT Gene

Aliases for AS3MT Gene

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

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 Griscelli Syndrome, Type 3. Among its related pathways are Metabolism and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity.

UniProtKB/Swiss-Prot for AS3MT Gene

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

Gene Wiki entry for AS3MT Gene

Additional gene information for AS3MT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AS3MT Gene

Genomics for AS3MT Gene

GeneHancer (GH) Regulatory Elements for AS3MT Gene

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 1.8 EPDnew Ensembl ENCODE 704.4 +0.2 221 1.6 MLX DMAP1 ZNF48 YY1 ZNF335 THAP11 NFKBIZ PAF1 SP3 RXRA AS3MT GC10P102871 ENSG00000283337 ST13P13 TAF5 GC10M102888 BORCS7-ASMT
GH10J102876 Promoter 1 EPDnew 650.4 +7.5 7489 0.1 FOXA2 MAX ZNF384 RARA YY1 LCORL NR2F6 CREM MIXL1 GATAD2A AS3MT GC10M102888 BORCS7-ASMT
GH10J102878 Promoter 0.5 EPDnew 650.4 +8.9 8922 0.1 AS3MT GC10M102888 BORCS7-ASMT
GH10J103190 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37 +322.9 322887 4.5 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 ZNF207 ZNF143 SP3 NFYC NT5C2 GC10P103194 AS3MT MARCKSL1P1 BORCS7 SFXN2 WBP1L GC10P103176
GH10J102916 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 37.1 +49.2 49196 4.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 CNNM2 AS3MT TAF5 PDCD11 GBF1 ENSG00000260461 PPRC1 ARMH3 NOLC1 LDB1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for AS3MT Gene

Genomic Locations for AS3MT Gene
chr10:102,869,453-102,901,899
(GRCh38/hg38)
Size:
32,447 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; Positions=333; Evidence={ECO:0000305};

    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:

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

Suggested Antigen Peptide Sequences for AS3MT Gene

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. It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2. Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + arsenite = S-adenosyl-L-homocysteine + methylarsonate.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + methylarsonite = S-adenosyl-L-homocysteine + dimethylarsinate.
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 IEA,IBA --
GO:0016740 transferase activity IEA --
GO:0030791 arsenite methyltransferase activity TAS --
GO:0030792 methylarsonite methyltransferase activity ISS --
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.

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 5
nucleus 3
extracellular 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AS3MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion 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

Interacting Proteins for AS3MT Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000358896%0d%0a9606.ENSP00000246337%0d%0a9606.ENSP00000361894%0d%0a
Selected Interacting proteins: ENSP00000358896 Q9HBK9-AS3MT_HUMAN for AS3MT Gene via STRING IID

Gene Ontology (GO) - Biological Process for AS3MT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009404 toxin metabolic process ISS --
GO:0018872 arsonoacetate metabolic process ISS --
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 102
s-adenosylhomocysteine Experimental Pharma 0

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

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 :
(7) Additional mRNA sequences :
(261) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AS3MT Gene

Arsenic (+3 oxidation state) methyltransferase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
AS3MT

Expression for AS3MT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of AS3MT Gene:

AS3MT

SOURCE GeneReport for Unigene cluster for AS3MT Gene:

Hs.720370

Evidence on tissue expression from TISSUES for AS3MT Gene

  • Liver(4.5)
  • Urine(2.2)
  • Adrenal gland(2)
  • Heart(2)
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 34 33
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AS3MT 33
  • 88.05 (n)
cow
(Bos Taurus)
Mammalia AS3MT 34 33
  • 87.9 (n)
OneToMany
-- 34
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia As3mt 16 34 33
  • 81.24 (n)
rat
(Rattus norvegicus)
Mammalia As3mt 33
  • 80.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AS3MT 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves AS3MT 34 33
  • 63.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AS3MT 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia as3mt 33
  • 64.72 (n)
zebrafish
(Danio rerio)
Actinopterygii as3mt 34 33
  • 60.98 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9677 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5398 34
  • 51 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
Cin.12976 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12976 33
Species where no ortholog for AS3MT was found in the sources mined by GeneCards:
  • 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)
  • 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

No data available for Paralogs for AS3MT Gene

Variants for AS3MT Gene

Sequence variations from dbSNP and Humsavar for AS3MT Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000054821 -- 102,888,219(+) C/T intron_variant
rs1000134191 -- 102,901,490(+) G/C 3_prime_UTR_variant
rs1000168209 -- 102,898,160(+) A/C intron_variant
rs1000216360 -- 102,894,524(+) A/T intron_variant
rs1000267314 -- 102,894,912(+) A/G intron_variant

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

(1) MalaCards diseases for AS3MT Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
griscelli syndrome, type 3
  • gs3
- 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
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 22 44 58
  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 22 44 58
  3. 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 22 44 58
  4. 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 22 44 58
  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 22 44 58

Products for AS3MT Gene

Sources for AS3MT Gene

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