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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAT1A Gene

protein-coding   GIFtS: 67
GCID: GC10M082021

Methionine Adenosyltransferase I, Alpha

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 methionine adenosyltransferase deficiency, and isolated persistent hypermethioninemia, and among its related super-pathways are Cysteine and methionine metabolism and methionine degradation I (to homocysteine). GO annotations related to this gene include methionine adenosyltransferase activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAT1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • UniProtKB: S-nitrosylation of Cys-120 inactivates the enzyme (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q00266

  • 4/32 DME Specific Peptides for MAT1A (Q00266) (see all 32)
     HIGYDDS  TKVDRSA  CDQISDA  PLSISIF 

    MAT1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAT1A Protein Expression
    REFSEQ proteins: NP_000420.1  
    ENSEMBL proteins: 
     ENSP00000361287   ENSP00000414961  
    Reactome Protein details: Q00266
    Human Recombinant Protein Products for MAT1A: 
    EMD Millipore Purified and/or Recombinant MAT1A Protein
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    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. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MAT1A for ontologies           About GeneDecksing



    MAT1A Antibody Products: 
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    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 

    Assay Products for MAT1A: 
    Browse Kits and Assays available from EMD Millipore
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    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)
    About This Section
    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for MAT1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAT1A
    8/10 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MAT1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAT1A

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MAT1A

    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of MAT1A 
                         Customized lentivirus expression plasmids for stable overexpression of MAT1A 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAT1A


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MAT1A About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cysteine and methionine metabolism
    Cysteine and methionine metabolism0.37
    Methionine metabolism0.32
    Sulfur amino acid metabolism0.37
    2methionine degradation I (to homocysteine)
    methionine degradation I (to homocysteine)0.83
    S-adenosyl-L-methionine biosynthesis0.60
    cysteine biosynthesis III (mammalia)0.83
    Methylation0.30
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Biological oxidations
    Biological oxidations0.55
    Phase II conjugation0.55
    5One Carbon Metabolism
    One Carbon Metabolism0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MAT1A
        Methionine metabolism


    1 GeneGo (Thomson Reuters) Pathway for MAT1A
        Methionine metabolism

    5 BioSystems Pathways for MAT1A
        One Carbon Metabolism
    S-adenosyl-L-methionine biosynthesis
    methionine degradation I (to homocysteine)
    superpathway of methionine degradation
    cysteine biosynthesis III (mammalia)


    5/6        Reactome Pathways for MAT1A (see all 6)
        Metabolism
    Sulfur amino acid metabolism
    Biological oxidations
    Metabolism of amino acids and derivatives
    Phase II conjugation


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAT1A

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

    5/134 Interacting proteins for MAT1A (Q002663 ENSP000003612874) via UniProtKB, MINT, STRING, and/or I2D (see all 134)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    HIST1H4DP628053I2D: score=3 
    HIST1H4EP628053I2D: score=3 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MAT1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAT1A (METK1)

    10/12 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

    10/18 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)

    Search CenterWatch for drugs/clinical trials and news about MAT1A / METK1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/10 QIAGEN miScript miRNA 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*
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    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of MAT1A 
                         Customized lentivirus expression plasmids for stable overexpression of MAT1A 
    Primer
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    OriGene qPCR primer pairs and template standards for MAT1A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAT1A
      QIAGEN 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 

    24/109 AceView cDNA sequences (see all 109):

    BG031941 BM905307 BU188637 BX448255 CR600407 T28566 W73594 BU165924 
    AI184830 X69078 AA451788 W04417 BC018359 BG617167 CA944644 N76813 
    BI825456 BQ352481 AI040981 NM_000429 AA678398 CB115401 BX365507 BM738684 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
             brain/hindbrain   
     
     Ovary (Reproductive System)
             oocyte   
     
     Uterus (Reproductive System)
             cervix   
     
     Pancreas (Endocrine System)
     
     Liver (Hepatobiliary System)

    See MAT1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAT1A

    SOURCE GeneReport for Unigene cluster: Hs.282670

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

        SABiosciences Expression via Pathway-Focused PCR Array including MAT1A: 
              Amino Acid Metabolism I in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAT1A gene from 9/22 species (see all 22)    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_133653.21  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
    S-adenosylmethionine synthase
    84(a)
    1 ↔ 1
    GL343233.1(1713109-1756455)
    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 MTO31 S-adenosylmethionine synthase 4 60.9(n)
    63.03(a)
      821003  NM_112618.3  NP_188365.1 
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/527 SNPs in MAT1A are shown (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
    ----------
    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--------
    VAR_0312444
    Methionine adenosyltransferase deficiency (MATD)4--see VAR_0312442 G R 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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    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

  • 20/30 diseases for MAT1A (see all 30):    About MalaCards
    methionine adenosyltransferase deficiency    isolated persistent hypermethioninemia    hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency    methionine adenosyltransferase deficiency, autosomal recessive
    glycine n-methyltransferase deficiency    superior mesenteric artery syndrome    beta-ketothiolase deficiency    ketothiolase deficiency
    hypermethioninemia    myofibrillar myopathy    homocystinuria    liver cirrhosis
    spina bifida    liver disease    parkinson's disease    hepatocellular carcinoma
    myopathy    alcoholism    amyotrophic lateral sclerosis    lateral sclerosis

    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

    10/12 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)
    About This Section

    PubMed articles for MAT1A gene, integrated from 9 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. (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. (1993)
    3. MAT1A variants are associated with hypertension, stro ke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folat e. (PubMed id 20335551)1, 4, 9 Lai C.Q....OrdovA!s J.M. (2010)
    4. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. (PubMed id 10677294)1, 2, 9 Chamberlin M.E.... Chou J.Y. (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. (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. (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. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4143 HGNC: 6903 AceView: MAT1A Ensembl:ENSG00000151224 euGenes: HUgn4143
    ECgene: MAT1A Kegg: 4143 H-InvDB: MAT1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAT1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAT1A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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