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Aliases for AS3MT Gene

Aliases for AS3MT Gene

  • Arsenite Methyltransferase 2 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 Cytochrome P450 - arranged by substrate type. 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

Regulatory Elements for AS3MT Gene

Enhancers for AS3MT 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
GH10H103196 1.9 FANTOM5 Ensembl ENCODE dbSUPER 37 +328.1 328086 2.1 HDGF PKNOX1 ATF1 YY1 TCF12 ELK1 FOS ATF7 NCOA1 REST AS3MT MARCKSL1P1 BORCS7 NT5C2 ST13P13
GH10H103190 1.7 FANTOM5 ENCODE dbSUPER 37 +322.9 322888 4.5 ARNT ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP3 MXD4 NFYC AS3MT MARCKSL1P1 BORCS7 NT5C2 SFXN2 WBP1L GC10P103194 GC10P103176
GH10H102785 1.5 FANTOM5 Ensembl ENCODE dbSUPER 37.7 -83.3 -83254 2.3 MAX HNF4A RAD21 NR2F2 GABPA AS3MT CYP17A1 PTGES3P4 PFN1P11 BORCS7 CNNM2 SFXN2 NFKB2 NT5C2 RNU6-1231P
GH10H102855 1 ENCODE 55.6 -13.4 -13434 1.5 FOXA2 FEZF1 GLI4 ZNF2 GLIS2 FOS KLF7 SP3 TSHZ1 ZNF623 AS3MT TAF5 PDCD11 ENSG00000282772 GC10P102871
GH10H102835 1.3 Ensembl ENCODE dbSUPER 42.5 -34.2 -34245 0.4 ARID4B KLF17 BATF ZNF2 RAD21 CBX5 SCRT2 ZNF143 ZNF391 THAP11 AS3MT NT5C2 CYP17A1 CYP17A1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AS3MT on UCSC Golden Path with GeneCards custom track

Promoters for AS3MT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032821 48 1000 MLX ZNF133 DMAP1 ZKSCAN1 ZNF664 POLR2A PRDM10 EZH2 PAF1 GATAD2A

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)

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 BiophysicochemicalProperties:
Kinetic parameters: KM=4.6 uM for sodium arsenite {ECO:0000269 PubMed:16407288}; KM=11.8 uM for AdoMet {ECO:0000269 PubMed:16407288};
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 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).

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 --
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

CRISPR Products

miRNA for AS3MT Gene

miRTarBase miRNAs that target AS3MT

Inhibitory RNA Products

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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AS3MT Gene

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: Q9HBK9-AS3MT_HUMAN ENSP00000358896 for AS3MT Gene via IID STRING

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 Nutra Target 0
L-Methionine Approved Nutra 0
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
  • AArsenite (AsO33-)
  • Arsenic (III) oxide
  • Arsenic (III) trioxide
  • Arsenic sesquioxide
  • Arsenic trioxide
15502-74-6
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
Arsenic
  • Arsen
  • Arsen [german,polish]
  • Arsenic black
  • Arsenic elemental
  • Arsenowodor [polish]
7440-38-2
Dimethylarsinate
  • Ansar
  • Arsan
  • Bolate
  • Bolls
  • Cacodylate
15132-04-4
Methylarsonate
  • Dsma (jmaf)
  • Kyselina methylarsonova
  • Kyselina methylarsonova [czech]
  • MAA
  • MeAsO(OH)2
124-58-3
genes like me logo Genes that share compounds with AS3MT: view

Transcripts for AS3MT Gene

mRNA/cDNA for AS3MT Gene

Unigene Clusters for AS3MT Gene

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

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia AS3MT 33
  • 88.05 (n)
cow
(Bos Taurus)
Mammalia AS3MT 33 34
  • 87.9 (n)
-- 34
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia As3mt 33 16 34
  • 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 33 34
  • 63.28 (n)
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 33 34
  • 60.98 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9677 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5398 34
  • 51 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
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)

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 Sequence Context AA Info Type
rs1000054821 -- 102,888,219(+) CAGCA(C/T)TATGC intron-variant
rs1000134191 -- 102,901,490(+) GCCCG(C/G)CCATA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1000168209 -- 102,898,160(+) GCTGG(A/C)GTACA intron-variant
rs1000216360 -- 102,894,524(+) AAGTT(A/T)TCCTA intron-variant
rs1000267314 -- 102,894,912(+) ATATT(A/G)TATGT intron-variant

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

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

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)

Relevant External Links for AS3MT Gene

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

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
  • griscelli syndrome type 3
- elite association - COSMIC cancer census association via MalaCards
Search AS3MT in MalaCards View complete list of genes associated with diseases

Relevant External Links for AS3MT

Genetic Association Database (GAD)
AS3MT
Human Genome Epidemiology (HuGE) Navigator
AS3MT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AS3MT
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 45 60
  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 45 60
  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 45 60
  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 45 60
  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 45 60

Products for AS3MT Gene

Sources for AS3MT Gene

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