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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
External Ids for AS3MT Gene
- HGNC: 17452
- NCBI Entrez Gene: 57412
- Ensembl: ENSG00000214435
- OMIM®: 611806
- UniProtKB/Swiss-Prot: Q9HBK9
Previous GeneCards Identifiers for AS3MT Gene
- GC10P104294
- GC10P104606
- GC10P104621
- GC10P104603
- GC10P104623
- GC10P104624
- GC10P098263
- GC10P104629
Summaries 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 Metabolism. 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 COQ5.
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).
Additional gene information for AS3MT Gene
- HGNC (17452)
- NCBI Entrez Gene (57412)
- Ensembl (ENSG00000214435)
- OMIM® (611806)
- UniProtKB/Swiss-Prot (Q9HBK9)
- Open Targets Platform(ENSG00000214435)
- Monarch Initiative
- Search for AS3MT at DataMed
- Search for AS3MT at HumanCyc
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
- 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
Latest Assembly
- chr10:102,869,470-102,901,899
- (GRCh38/hg38)
- Size:
- 32,430 bases
- Orientation:
- Plus strand
Previous Assembly
- chr10:104,629,227-104,661,656
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 32,430 bases
- Orientation:
- Plus strand
- chr10:104,629,273-104,661,656
- (GRCh37/hg19 by Ensembl)
- Size:
- 32,384 bases
- Orientation:
- Plus strand
Genomic View for AS3MT Gene
Genes around AS3MT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.32 by HGNC
- 10q24.32 by Entrez Gene
- 10q24.32 by Ensembl
AS3MT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for AS3MT Gene
Post-translational modifications for AS3MT Gene
Other Protein References for AS3MT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences AS3MT Antibody
-
Custom Antibody ServicesOriGene Antibodies for AS3MT
- Novus Biologicals Antibodies for AS3MT
-
Abcam antibodies for AS3MT
- Invitrogen Antibodies for AS3MT (AFLGC-As3mt)
-
Biorbyt antibodies for AS3MT
-
Boster Bio Antibodies for AS3MT
-
Santa Cruz Biotechnology (SCBT) Antibodies for AS3MT
- Sino Biological Antibodies for AS3MT
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for AS3MT
- Origene Custom Protein Services for AS3MT
- ProSpec Recombinant Proteins for AS3MT
- antibodies-online: Show 7 available AS3MT Proteins ranked by validation data
- Compare Top AS3MT Proteins
-
Quality Products:
-
Abcam proteins for AS3MT
Assay products for research
No data available for DME Specific Peptides for AS3MT Gene
Domains & Families for AS3MT Gene
Gene Families for AS3MT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
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
Q9HBK9UniProtKB/Swiss-Prot:
AS3MT_HUMAN :- Belongs to the methyltransferase superfamily. Arsenite methyltransferase family.
- Family:
-
- Belongs to the methyltransferase superfamily. Arsenite methyltransferase family.
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
| 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 |
Phenotypes for AS3MT Gene
- MGI mutant phenotypes for AS3MT:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AS3MT:
-
- Decreased viability
- no effect
- shRNA abundance <= 25%
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased homologous recombination repair frequency
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased viability with MLN4924 (a NAE inhibitor)
- Strongly decreased NFAT1-GFP nuclear translocation
- Decreased viability in colon lineage; decreased viability in esophageal squamous lineage
Animal Models for AS3MT Gene
- MGI Knock Outs for AS3MT:
-
- As3mt As3mt<tm1Djth>
Animal Models for research
-
Taconic Biosciences Mouse Models for AS3MT
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AS3MT - Starting at $85 >
- * AS3MT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AS3MT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AS3MT
-
Santa Cruz Biotechnology (SCBT) CRISPR for AS3MT
miRNA for AS3MT Gene
- miRTarBase miRNAs that target AS3MT
-
- hsa-miR-640 (MIRT629498)
- hsa-miR-215-5p (MIRT629499)
- hsa-miR-192-5p (MIRT629500)
- hsa-miR-6821-3p (MIRT629501)
- hsa-miR-6790-3p (MIRT629502)
- hsa-miR-150-5p (MIRT629503)
- hsa-miR-1224-3p (MIRT629504)
- hsa-miR-6814-5p (MIRT629505)
- hsa-miR-6513-3p (MIRT629506)
- hsa-miR-4761-5p (MIRT629507)
- hsa-miR-8079 (MIRT629508)
- hsa-miR-1245a (MIRT629509)
- hsa-miR-4735-3p (MIRT629510)
- hsa-miR-18b-5p (MIRT629511)
- hsa-miR-18a-5p (MIRT629512)
- hsa-miR-5006-3p (MIRT631534)
- hsa-miR-4755-5p (MIRT631535)
- hsa-miR-4753-3p (MIRT631536)
- hsa-miR-6873-3p (MIRT631537)
- hsa-miR-211-5p (MIRT631538)
- hsa-miR-204-5p (MIRT631539)
- hsa-miR-623 (MIRT631540)
- hsa-miR-130b-5p (MIRT631541)
- hsa-miR-6817-3p (MIRT631542)
- hsa-miR-6734-3p (MIRT631543)
- hsa-miR-498 (MIRT679941)
- hsa-miR-4279 (MIRT679942)
- hsa-miR-6783-3p (MIRT679943)
- hsa-miR-1343-3p (MIRT679944)
- hsa-miR-23b-5p (MIRT679945)
- hsa-miR-23a-5p (MIRT679946)
- hsa-miR-6778-3p (MIRT679947)
- hsa-miR-1976 (MIRT679948)
- hsa-miR-3653-5p (MIRT679949)
- hsa-miR-138-1-3p (MIRT679950)
- hsa-miR-6742-3p (MIRT679951)
- hsa-miR-6852-5p (MIRT679952)
- hsa-miR-939-3p (MIRT679953)
- hsa-miR-6747-3p (MIRT679954)
- hsa-miR-6727-3p (MIRT679955)
- hsa-miR-4722-3p (MIRT679956)
- hsa-miR-4740-3p (MIRT679957)
- hsa-miR-5571-5p (MIRT679958)
- hsa-miR-665 (MIRT693061)
- hsa-miR-6771-5p (MIRT693062)
- hsa-miR-7160-5p (MIRT693063)
- hsa-miR-4722-5p (MIRT693064)
- hsa-miR-6884-5p (MIRT693065)
- hsa-miR-485-5p (MIRT693066)
- hsa-miR-1827 (MIRT693067)
- hsa-miR-4649-3p (MIRT693068)
- hsa-miR-6787-3p (MIRT693069)
- hsa-miR-6746-5p (MIRT693070)
- hsa-miR-5690 (MIRT693071)
- hsa-miR-6500-3p (MIRT693072)
- hsa-miR-3614-5p (MIRT693073)
- hsa-miR-940 (MIRT693074)
- hsa-miR-6893-5p (MIRT693075)
- hsa-miR-6808-5p (MIRT693076)
- hsa-miR-216b-5p (MIRT693077)
- hsa-miR-216a-5p (MIRT693078)
- hsa-miR-34b-3p (MIRT693079)
- hsa-miR-1267 (MIRT761750)
- hsa-miR-3135b (MIRT764911)
- hsa-miR-3194-3p (MIRT765469)
- hsa-miR-3652 (MIRT766270)
- hsa-miR-367-5p (MIRT766704)
- hsa-miR-4423-5p (MIRT768853)
- hsa-miR-4430 (MIRT768905)
- hsa-miR-5691 (MIRT775005)
- hsa-miR-5693 (MIRT775024)
- hsa-miR-6501-5p (MIRT776517)
- hsa-miR-6805-3p (MIRT779517)
- hsa-miR-744-3p (MIRT781707)
- hsa-miR-129-5p (MIRT783450)
- hsa-miR-3140-3p (MIRT784635)
- hsa-miR-3672 (MIRT785114)
- hsa-miR-4524a-3p (MIRT786099)
- hsa-miR-6864-3p (MIRT789119)
- hsa-miR-6885-3p (MIRT789305)
- hsa-miR-8055 (MIRT789652)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AS3MT
- Browse OriGene Inhibitory RNA Products For AS3MT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AS3MT
Clone products for research
- Applied Biological Materials (abm): Clones for AS3MT - Starting at $45 >
- * AS3MT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for AS3MT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AS3MT
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for AS3MT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Aldosterone Signaling in Epithelial Cells
.47
|
|
| 3 | Metabolism |
.40
|
|
| 4 | arsenate detoxification I (glutaredoxin) | ||
Pathways by source for AS3MT Gene
1 BioSystems pathway for AS3MT Gene
4 Reactome pathways for AS3MT Gene
1 Qiagen pathway for AS3MT Gene
- Aldosterone Signaling in Epithelial Cells
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for AS3MT Gene
Drugs & Compounds for AS3MT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| arsenite |
|
15502-74-6 | ||||
| s-adenosylmethionine |
|
485-80-3 | ||||
| Arsenic |
|
7440-38-2 |
|
|||
| Methylarsonate |
|
124-58-3 |
|
|||
| Methylarsonite |
|
25400-23-1 |
|
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 :
-
- ENST00000369880 2450 nts (view in UCSC)
- ENST00000615257 1723 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for AS3MT - Starting at $85 >
- * AS3MT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for AS3MT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AS3MT
-
Santa Cruz Biotechnology (SCBT) CRISPR for AS3MT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AS3MT
- Browse OriGene Inhibitory RNA Products For AS3MT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AS3MT
Clone products for research
- Applied Biological Materials (abm): Clones for AS3MT - Starting at $45 >
- * AS3MT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for AS3MT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AS3MT
Relevant External Links for AS3MT Gene
- GeneLoc Exon Structure for
- AS3MT
Expression for AS3MT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Epiblast (Early Embryonic Tissues)
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for AS3MT Gene
This gene is overexpressed in Adrenal Gland (x30.7).
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.720370Evidence on tissue expression from TISSUES for AS3MT Gene
- Liver(4.5)
- Adrenal gland(2.5)
- Heart(2.4)
- Urine(2.3)
- Kidney(2.3)
- Muscle(2.3)
- Intestine(2.3)
Primer products for research
-
OriGene qPCR primer pairs for AS3MT
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AS3MT 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AS3MT 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | AS3MT 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | As3mt 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | As3mt 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AS3MT 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AS3MT 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AS3MT 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | as3mt 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | as3mt 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9677 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5398 31 |
|
OneToMany | |
| -- 31 |
|
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
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 |
|---|---|---|---|---|---|
| rs17880345 | Benign: not provided | 102,870,074(+) |
G/T NM_020682.4(AS3MT):c.43-10G>T |
INTRON | |
| rs11191439 | - |
p.Met287Thr |
|||
| rs34556438 | - |
p.Thr306Ile |
|||
| rs35232887 | - |
p.Arg173Trp |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AS3MT Gene
Disorders for AS3MT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myosin storage, autosomal dominant |
|
|
| hyaline body myopathy |
|
|
| borst-jadassohn intraepidermal carcinoma |
|
|
| attention deficit-hyperactivity disorder |
|
|
| schizophrenia |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AS3MT Gene
Publications for AS3MT Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for AS3MT Gene
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Sources for AS3MT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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