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Q9HBK9 (AS3MT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Arsenite methyltransferase

EC=2.1.1.137
Alternative name(s):
Methylarsonite methyltransferase
S-adenosyl-L-methionine:arsenic(III) methyltransferase
Gene names
Name:AS3MT
Synonyms:CYT19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length375 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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-AsO3H2, 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), Me2As(O)-OH By similarity.

Catalytic activity

S-adenosyl-L-methionine + arsenite = S-adenosyl-L-homocysteine + methylarsonate.

S-adenosyl-L-methionine + methylarsonite = S-adenosyl-L-homocysteine + dimethylarsinate.

Subcellular location

Cytoplasm By similarity.

Sequence similarities

Belongs to the methyltransferase superfamily.

Biophysicochemical properties

Kinetic parameters:

KM=4.6 µM for sodium arsenite Ref.1

KM=11.8 µM for AdoMet

Sequence caution

The sequence AAG09731.1 differs from that shown. Reason: Frameshift at position 333.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: An isoform missing exon 3 is produced with a premature stop codon at AA 23 and is targeted to nonsense-mediated mRNA decay (NMD).
Isoform 1 (identifier: Q9HBK9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9HBK9-2)

Also known as: 31.1 kDa; delta4,5;

The sequence of this isoform differs from the canonical sequence as follows:
     58-153: Missing.
Note: Devoid of methyltransferase activity.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 375375Arsenite methyltransferase
PRO_0000204447

Natural variations

Alternative sequence58 – 15396Missing in isoform 2.
VSP_053494
Natural variant1731R → W Rare polymorphism; frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type. Ref.1
Corresponds to variant rs35232887 [ dbSNP | Ensembl ].
VAR_027392
Natural variant2871M → T Common polymorphism; frequency in African-Americans 0.108 and Caucasian-Americans 0.100; enzyme activity is 350% of wild-type. Ref.1 Ref.9
Corresponds to variant rs11191439 [ dbSNP | Ensembl ].
VAR_027393
Natural variant3061T → I Rare polymorphism; frequency in Caucasian-Americans 0.008; not detected in African-Americans. Ref.1
Corresponds to variant rs34556438 [ dbSNP | Ensembl ].
VAR_027394

Experimental info

Sequence conflict1251Q → R in AAI19638. Ref.6
Sequence conflict1321I → F in AAG09731. Ref.2
Sequence conflict1351Y → N in AAG09731. Ref.2
Sequence conflict1401G → A in AAG09731. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 14, 2008. Version 3.
Checksum: 2E0C758A8597AE33

FASTA37541,748
        10         20         30         40         50         60 
MAALRDAEIQ KDVQTYYGQV LKRSADLQTN GCVTTARPVP KHIREALQNV HEEVALRYYG 

        70         80         90        100        110        120 
CGLVIPEHLE NCWILDLGSG SGRDCYVLSQ LVGEKGHVTG IDMTKGQVEV AEKYLDYHME 

       130        140        150        160        170        180 
KYGFQASNVT FIHGYIEKLG EAGIKNESHD IVVSNCVINL VPDKQQVLQE AYRVLKHGGE 

       190        200        210        220        230        240 
LYFSDVYTSL ELPEEIRTHK VLWGECLGGA LYWKELAVLA QKIGFCPPRL VTANLITIQN 

       250        260        270        280        290        300 
KELERVIGDC RFVSATFRLF KHSKTGPTKR CQVIYNGGIT GHEKELMFDA NFTFKEGEIV 

       310        320        330        340        350        360 
EVDEETAAIL KNSRFAQDFL IRPIGEKLPT SGGCSALELK DIITDPFKLA EESDSMKSRC 

       370 
VPDAAGGCCG TKKSC 

« Hide

Isoform 2 (31.1 kDa) (delta4,5) [UniParc].

Checksum: 50160483AE264D85
Show »

FASTA27931,098

References

« Hide 'large scale' references
[1]"Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies."
Wood T.C., Salavagionne O.E., Mukherjee B., Wang L., Klumpp A.F., Thomae B.A., Eckloff B.W., Schaid D.J., Wieben E.D., Weinshilboum R.M.
J. Biol. Chem. 281:7364-7373(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS TRP-173; THR-287 AND ILE-306.
[2]Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Adrenal tumor.
[3]Yu L., Kalla K., Guthrie E., Vidrine A., Klimecki W.T.
Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-367 (ISOFORM 1).
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Alternative splicing variants of human arsenic (+3 oxidation state) methyltransferase."
Sumi D., Fukushima K., Miyataka H., Himeno S.
Biochem. Biophys. Res. Commun. 415:48-53(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING.
[9]"High arsenic metabolic efficiency in AS3MT287Thr allele carriers."
Hernandez A., Xamena N., Sekaran C., Tokunaga H., Sampayo-Reyes A., Quinteros D., Creus A., Marcos R.
Pharmacogenet. Genomics 18:349-355(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-287.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF226730 mRNA. Translation: AAG09731.1. Frameshift.
AY817668 Genomic DNA. Translation: AAV68045.1.
AL358790 Genomic DNA. Translation: CAI52503.1.
CH471066 Genomic DNA. Translation: EAW49668.1.
BC119637 mRNA. Translation: AAI19638.1.
BC119638 mRNA. Translation: AAI19639.2.
RefSeqNP_065733.2. NM_020682.3.
UniGeneHs.720370.

3D structure databases

ProteinModelPortalQ9HBK9.
SMRQ9HBK9. Positions 39-321.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121513. 1 interaction.
IntActQ9HBK9. 2 interactions.
STRING9606.ENSP00000358896.

PTM databases

PhosphoSiteQ9HBK9.

Polymorphism databases

DMDM209572762.

Proteomic databases

PaxDbQ9HBK9.
PRIDEQ9HBK9.

Protocols and materials databases

DNASU57412.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369880; ENSP00000358896; ENSG00000214435. [Q9HBK9-1]
GeneID57412.
KEGGhsa:57412.
UCSCuc001kwj.3. human. [Q9HBK9-1]

Organism-specific databases

CTD57412.
GeneCardsGC10P104629.
HGNCHGNC:17452. AS3MT.
HPAHPA017856.
HPA027708.
MIM611806. gene.
neXtProtNX_Q9HBK9.
PharmGKBPA134896392.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257055.
HOGENOMHOG000229966.
HOVERGENHBG050585.
InParanoidQ9HBK9.
KOK07755.
OMAARYYGCG.
OrthoDBEOG7V49ZQ.
PhylomeDBQ9HBK9.
TreeFamTF343797.

Enzyme and pathway databases

BioCycMetaCyc:HS01822-MONOMER.
BRENDA2.1.1.137. 2681.
SABIO-RKQ9HBK9.

Gene expression databases

BgeeQ9HBK9.
CleanExHS_AS3MT.
GenevestigatorQ9HBK9.

Family and domain databases

InterProIPR026669. Arsenite_MeTrfase.
IPR025714. Methyltranfer_dom.
[Graphical view]
PANTHERPTHR10108:SF11. PTHR10108:SF11. 1 hit.
PfamPF13847. Methyltransf_31. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAS3MT.
GenomeRNAi57412.
NextBio63542.
PROQ9HBK9.
SOURCESearch...

Entry information

Entry nameAS3MT_HUMAN
AccessionPrimary (citable) accession number: Q9HBK9
Secondary accession number(s): A6NP79 expand/collapse secondary AC list , Q0VDK3, Q0VDK4, Q5PZ02
Entry history
Integrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: October 14, 2008
Last modified: April 16, 2014
This is version 100 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM