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MAT1A Gene

protein-coding   GIFtS: 68
GCID: GC10M082021

Methionine Adenosyltransferase I, Alpha

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methionine Adenosyltransferase I, Alpha1 2     SAMS12 5
MATA12 3 5     S-Adenosylmethionine Synthetase1
AdoMet Synthase 12 3     MAT2
Methionine Adenosyltransferase 12 3     SAMS2
Methionine Adenosyltransferase I/III2 3     AdoMet Synthetase 12
MAT-I/III2 3     S-Adenosylmethionine Synthase Isoform Type-12
MAT 12 3     S-Adenosylmethionine Synthetase Isoform Type-12
EC 2.5.1.63 8     AMS13

External Ids:    HGNC: 69031   Entrez Gene: 41432   Ensembl: ENSG000001512247   OMIM: 6105505   UniProtKB: Q002663   

Export aliases for MAT1A gene to outside databases

Previous GC identifers: GC10M080988 GC10M081253 GC10M082162 GC10M081696 GC10M075874


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAT1A Gene:
This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to
form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine
is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer
(MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in
this gene are associated with methionine adenosyltransferase deficiency. (provided by RefSeq, Jul 2008)

GeneCards Summary for MAT1A Gene:
MAT1A (methionine adenosyltransferase I, alpha) is a protein-coding gene. Diseases associated with MAT1A include hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency, and methionine adenosyltransferase deficiency. GO annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.

UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266
Function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAT1A gene promoter:
         LHX3b/Lhx3b   AML1a   Nkx2-2   Brachyury   C/EBPalpha   FOXO1a   LHX3a/Lhx3a   Zic3   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAT1A promoter sequence
   Search Chromatin IP Primers for MAT1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAT1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q23.1   HGNC cytogenetic band: 10q22

MAT1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAT1A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M082021:  view genomic region     (about GC identifiers)

Start:
82,031,576 bp from pter      End:
82,049,440 bp from pter
Size:
17,865 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266 (See protein sequence)
Recommended Name: S-adenosylmethionine synthase isoform type-1  
Size: 395 amino acids; 43648 Da
Cofactor: Binds 2 divalent ions per subunit. Magnesium or cobalt (By similarity)
Cofactor: Binds 1 potassium ion per subunit (By similarity)
Subunit: Homotetramer (MAT-I) or homodimer (MAT-III)
1 PDB 3D structure from and Proteopedia for MAT1A:
2OBV (3D)    
Secondary accessions: D3DWD5 Q5QP09

Explore the universe of human proteins at neXtProt for MAT1A: NX_Q00266

Explore proteomics data for MAT1A at MOPED

Post-translational modifications: 

  • S-nitrosylation of Cys-120 inactivates the enzyme (By similarity)1
  • Ubiquitination2 at Lys351
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MAT1A (Q00266) (see all 32)
     HIGYDDS  TKVDRSA  CDQISDA  PLSISIF 


    See MAT1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000420.1  
    ENSEMBL proteins: 
     ENSP00000361287   ENSP00000414961  
    Reactome Protein details: Q00266

    MAT1A Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant MAT1A Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MAT1A
    OriGene Protein Over-expression Lysate for MAT1A
    OriGene MassSpec for MAT1A
    OriGene Custom Protein Services for MAT1A
    GenScript Custom Purified and Recombinant Proteins Services for MAT1A
    Novus Biologicals MAT1A Proteins
    Novus Biologicals MAT1A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for MAT1A
    Browse Proteins at Cloud-Clone Corp.

    MAT1A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MAT1A
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MAT1A
    OriGene Custom Antibody Services for MAT1A
    Novus Biologicals MAT1A Antibodies
    Abcam antibodies for MAT1A
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for MAT1A
    LSBio Antibodies in human, mouse, rat for MAT1A

    MAT1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MAT1A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAT1A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR022636 S-AdoMet_synthetase_sfam
     IPR022628 S-AdoMet_synt_N
     IPR022631 ADOMET_SYNTHASE_CS
     IPR022630 S-AdoMet_synt_C
     IPR002133 S-AdoMet_synthetase

    Graphical View of Domain Structure for InterPro Entry Q00266

    ProtoNet protein and cluster: Q00266

    1 Blocks protein domain: IPB002133 S-adenosylmethionine synthetase

    UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266
    Similarity: Belongs to the AdoMet synthase family


    MAT1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: METK1_HUMAN, Q00266
    Function: Catalyzes the formation of S-adenosylmethionine from methionine and ATP
    Catalytic activity: ATP + L-methionine + H(2)O = phosphate + diphosphate + S-adenosyl-L-methionine

         Genatlas biochemistry entry for MAT1A:
    methionine adenosyltransferase,specifically expressed in liver,sulfur aminoacid metabolism

         Enzyme Number (IUBMB): EC 2.5.1.61 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004478methionine adenosyltransferase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    MAT1A for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mat1a):
     homeostasis/metabolism  immune system  liver/biliary system 

    MAT1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mat1atm1Jmm for MAT1A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAT1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAT1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAT1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAT1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAT1A:
    hsa-mir-335-5p (MIRT018853)

    Block miRNA regulation of human, mouse, rat MAT1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAT1A (see all 10):
    hsa-miR-4300 hsa-miR-7-2* hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-3126-5p hsa-miR-920 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidMAT1A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAT1A
    Predesigned siRNA for gene silencing in human, mouse, rat MAT1A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAT1A

    Clone
    Products:
         
    OriGene clones in human, mouse for MAT1A (see all 6)
    OriGene ORF clones in mouse, rat for MAT1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAT1A (NM_000429)
    Sino Biological Human cDNA Clone for MAT1A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAT1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAT1A

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MAT1A
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAT1A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAT1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    MAT1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MAT1A About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One Carbon Metabolism0.53
    Methionine metabolism0.35
    Trans-sulfuration and one carbon metabolism0.43
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35
    4Biological oxidations
    Biological oxidations0.56
    Methylation0.00
    Phase II conjugation0.56
    5superpathway of methionine degradation
    superpathway of methionine degradation
    cysteine biosynthesis III (mammalia)0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for MAT1A
        Methionine metabolism

    Selected BioSystems Pathways for MAT1A (see all 6)
        One Carbon Metabolism
    methionine degradation I (to homocysteine)
    Trans-sulfuration and one carbon metabolism
    superpathway of methionine degradation
    S-adenosyl-L-methionine biosynthesis


    2 Reactome Pathways for MAT1A
        Sulfur amino acid metabolism
    Methylation


    3 Kegg Pathways  (Kegg details for MAT1A):
        Cysteine and methionine metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266
    Pathway: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine:
    step 1/1


    MAT1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAT1A: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAT1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MAT1A (Q002663 ENSP000003612874) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=3 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006520cellular amino acid metabolic process TAS1772450
    GO:0006556S-adenosylmethionine biosynthetic process IEA--
    GO:0006730one-carbon metabolic process IEA--
    GO:0006805xenobiotic metabolic process TAS--

    MAT1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAT1A (METK1)

    Selected HMDB Compounds for MAT1A (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CobaltCo (see all 6)7440-48-4--
    L-Methionine(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)63-68-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    PotassiumK+ (see all 16)7440-09-7--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Se-Adenosylselenomethionine ----

    5 DrugBank Compounds for MAT1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3enzymesubstrate16614071 16435220 17154373 17317269 17631143
    S-AdenosylmethionineAcylcarnitine (see all 6)29908-03-0targetcofactor12631701 12060674 11301045 12671891 12660248
    3-Oxiran-2ylalanine-- --target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    L-2-Amino-4-Methoxy-Cis-but-3-Enoic Acid-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for MAT1A gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-adenosylmethionine 92.9 136 16054984 (4), 11520127 (3), 16958675 (3), 9537246 (2) (see all 60)
    methionine 88.8 133 10677294 (3), 10514445 (3), 11278456 (3), 10415148 (2) (see all 75)
    cystathionine 77.2 2 11131452 (1), 15963701 (1)
    5-methylthioadenosine 75.9 2 18041713 (1)
    s-adenosylhomocysteine 75.9 8 11520127 (1), 9217094 (1), 9537246 (1), 15122759 (1) (see all 5)
    ethionine 69.1 4 8903381 (1), 17441811 (1)
    homocysteine 47.7 4 20335551 (2), 10677294 (1), 12145770 (1)
    atp 38.7 15 10567242 (2), 9337154 (1), 8903381 (1), 18793149 (1) (see all 11)
    levodopa 21.6 11 8479601 (5), 11520127 (2), 16340382 (1)
    cysteine 16.6 3 9337154 (1), 18752204 (1)



    MAT1A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAT1A gene: 
    NM_000429.2  

    Unigene Cluster for MAT1A:

    Methionine adenosyltransferase I, alpha
    Hs.282670  [show with all ESTs]
    Unigene Representative Sequence: NM_000429
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485270 ENST00000372213(uc001kbw.3) ENST00000480845 ENST00000455001

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat MAT1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAT1A (see all 10):
    hsa-miR-4300 hsa-miR-7-2* hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-3126-5p hsa-miR-920 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidMAT1A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MAT1A
    Predesigned siRNA for gene silencing in human, mouse, rat MAT1A
    Clone
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    OriGene clones in human, mouse for MAT1A (see all 6)
    OriGene ORF clones in mouse, rat for MAT1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAT1A (NM_000429)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAT1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAT1A
    Primer
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    OriGene qPCR primer pairs and template standards for MAT1A
    OriGene qSTAR qPCR primer pairs in human, mouse for MAT1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAT1A
      QuantiTect SYBR Green Assays in human, mouse, rat MAT1A
      QuantiFast Probe-based Assays in human, mouse, rat MAT1A

    Additional mRNA sequence: 

    AK026931.1 AK290820.1 BC018359.1 D49357.1 X69078.1 

    8 DOTS entries:

    DT.449162  DT.100785276  DT.100785275  DT.100649954  DT.100785277  DT.92421482  DT.95155219  DT.97806543 

    Selected AceView cDNA sequences (see all 109):

    BM905307 BX448255 AI184830 T28566 BU165924 BU188637 BG031941 CR600407 
    W73594 N76813 BM738684 BX495906 D49357 BV185727 AI144381 BX507407 
    H78095 BX496326 BX496374 BX119626 CB115401 BI825456 NM_000429 CA944644 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MAT1A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
    SP1:                                            -                     
    SP2:              -                                                   
    SP3:                                                                  


    ECgene alternative splicing isoforms for MAT1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MAT1A expression in normal human tissues (normalized intensities)      MAT1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATTCAGA
    MAT1A Expression
    About this image


    MAT1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Pancreas (Endocrine System)
    MAT1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAT1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282670

    UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266
    Tissue specificity: Expressed in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including MAT1A: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for MAT1A
    OriGene qSTAR qPCR primer pairs in human, mouse for MAT1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAT1A
    QuantiTect SYBR Green Assays in human, mouse, rat MAT1A
    QuantiFast Probe-based Assays in human, mouse, rat MAT1A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAT1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAT1A gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mat1a1 , 5 methionine adenosyltransferase I, alpha1, 5 88.52(n)1
    96.46(a)1
      14 (22.36 cM)5
    117201  NM_133653.31  NP_598414.11 
     411053815 
    chicken
    (Gallus gallus)
    Aves MAT1A1 methionine adenosyltransferase I, alpha 78.31(n)
    91.14(a)
      423628  NM_001199519.1  NP_001186448.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAT1A6
    methionine adenosyltransferase I, alpha
    84(a)
    1 ↔ 1
    GL343233.1(1713109-1756455)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mat1a1 methionine adenosyltransferase I, alpha 74.51(n)
    85.06(a)
      100127858  NM_001113154.1  NP_001106625.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi35e012 wufi35e01 78.27(n)   334195  BC045343.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta M(2)21AB3 S-adenosylmethionine biosynthesis
    methionine adenosyltransferase
    72(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C06E7.1a3 S-adenosylmethionine synthetase 72(a)
    (best of 2)
      IV(5848877-5850786)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAM1(YLR180W)4 S-adenosylmethionine synthetase, catalyzes transfer more   --   12(515262-516410) 850877  NP_013281.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAM-21 SAM-2 62.07(n)
    62.86(a)
      826987  NM_001084876.1  NP_001078345.1 
    rice
    (Oryza sativa)
    Liliopsida AK103157.12   -- 75.48(n)    AK103157.1 


    ENSEMBL Gene Tree for MAT1A (if available)
    TreeFam Gene Tree for MAT1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAT1A gene
    MAT2A2  
    1 SIMAP similar gene for MAT1A using alignment to 2 protein entries:     METK1_HUMAN (see all proteins):
    MAT2A

    MAT1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAT1A (see all 527)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387428701,2,,4
    CMethionine adenosyltransferase deficiency (MATD)4 --82406785(+) CCGGCC/TGGAGG 2 Q R mis10--------
    VAR_0069424
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069422 G S mis40--------
    VAR_0312454
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0312452 E A mis40--------
    VAR_0069414
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069412 P L mis40--------
    VAR_0312424
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0312422 S N mis40--------
    VAR_0069394
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069392 I M mis40--------
    VAR_0069354
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069352 A D mis40--------
    VAR_0069364
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069362 R C mis40--------
    VAR_0312434
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0312432 R C mis40--------
    VAR_0069374
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0069372 R H mis40--------

    HapMap Linkage Disequilibrium report for MAT1A (82031576 - 82049440 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MAT1A: --
    Human Gene Mutation Database (HGMD): MAT1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAT1A
    DNA2.0 Custom Variant and Variant Library Synthesis for MAT1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610550   
    OMIM disorders: 250850  
    UniProtKB/Swiss-Prot: METK1_HUMAN, Q00266
  • Methionine adenosyltransferase deficiency (MATD) [MIM:250850]: An inborn error of metabolism resulting in
    isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may
    be present in rare cases with severe loss of methionine adenosyltransferase activity. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for MAT1A (see all 30):    About MalaCards
    hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency    methionine adenosyltransferase deficiency    isolated persistent hypermethioninemia    methionine adenosyltransferase deficiency, autosomal recessive
    superior mesenteric artery syndrome    glycine n-methyltransferase deficiency    hypermethioninemia    beta-ketothiolase deficiency
    ketothiolase deficiency    myofibrillar myopathy    homocystinuria    liver cirrhosis
    spina bifida    liver disease    parkinson's disease    hepatocellular carcinoma
    myopathy    lateral sclerosis    amyotrophic lateral sclerosis    dementia

    4 diseases from the University of Copenhagen DISEASES database for MAT1A:
    Hypermethioninemia     Homocystinuria     Hepatocellular carcinoma     Superior mesenteric artery syndrome

    MAT1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for MAT1A gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypermethioninemia 96 12 9482646 (2), 11278456 (2), 9363660 (2), 10677294 (1) (see all 7)
    beta-ketothiolase deficiency 83.6 5 10674710 (2), 7573050 (1), 7560086 (1)
    homocystinuria 68.9 2 11278456 (1)
    hepatocellular carcinoma 61.4 9 20363925 (2), 11427482 (1), 17154373 (1), 8903381 (1) (see all 8)
    liver diseases alcoholic 49.3 6 16958675 (2), 9337154 (1), 16054984 (1)
    chronic liver disease 43.9 2 15067322 (1), 16054984 (1)
    demyelination 41.7 8 10677294 (2), 9482646 (2), 8770875 (2), 10674710 (1)
    cirrhosis 34.4 2 11131452 (1), 18336669 (1)
    liver cirrhosis 18.3 1 11131452 (1)
    parkinson disease 8.9 1 9217094 (1)

    Genatlas disease: MAT1A
    hypermethioninemia,persistent with brain demyelination in homozygote

    Genetic Association Database (GAD): MAT1A
    Human Genome Epidemiology (HuGE) Navigator: MAT1A (11 documents)

    Export disorders for MAT1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAT1A gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with MAT1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. (PubMed id 8770875)1, 2, 4, 9 Chamberlin M.E....Chou J.Y. (J. Clin. Invest. 1996)
    2. Characterization of a full-length cDNA encoding human liver S- adenosylmethionine synthetase: tissue-specific gene expression and mRNA levels in hepatopathies. (PubMed id 8393662)1, 2, 3 Alvarez L.... Mato J.M. (Biochem. J. 1993)
    3. MAT1A variants are associated with hypertension, stroke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folate. (PubMed id 20335551)1, 4, 9 Lai C.Q....OrdovA!s J.M. (Am. J. Clin. Nutr. 2010)
    4. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. (PubMed id 10677294)1, 2, 9 Chamberlin M.E.... Chou J.Y. (Am. J. Hum. Genet. 2000)
    5. Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. (PubMed id 7560086)1, 2, 9 Ubagai T.... Chou J.Y. (J. Clin. Invest. 1995)
    6. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. (PubMed id 9042912)1, 2, 9 Chamberlin M.E.... Chou J.Y. (Am. J. Hum. Genet. 1997)
    7. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PubMed id 19048631)1, 4 Boyles A.L....Lie R.T. (Genet. Epidemiol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4143 HGNC: 6903 AceView: MAT1A Ensembl:ENSG00000151224 euGenes: HUgn4143
    ECgene: MAT1A Kegg: 4143 H-InvDB: MAT1A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MAT1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MAT1A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAT1A gene:
    Search GeneIP for patents involving MAT1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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