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Aliases for MAT1A Gene

Aliases for MAT1A Gene

  • Methionine Adenosyltransferase 1A 2 3 5
  • Methionine Adenosyltransferase I, Alpha 2 3
  • Methionine Adenosyltransferase I/III 3 4
  • Methionine Adenosyltransferase 1 3 4
  • AdoMet Synthase 1 3 4
  • MAT-I/III 3 4
  • MAT 1 3 4
  • MATA1 3 4
  • S-Adenosylmethionine Synthetase Isoform Type-1 3
  • S-Adenosylmethionine Synthase Isoform Type-1 3
  • S-Adenosylmethionine Synthetase 2
  • AdoMet Synthetase 1 3
  • EC 4
  • SAMS1 3
  • SAMS 3
  • AMS1 4
  • MAT 3

External Ids for MAT1A Gene

Previous GeneCards Identifiers for MAT1A Gene

  • GC10M080988
  • GC10M081253
  • GC10M082162
  • GC10M081696
  • GC10M082021
  • GC10M075874

Summaries for MAT1A Gene

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 1A) is a Protein Coding gene. Diseases associated with MAT1A include Methionine Adenosyltransferase I/Iii Deficiency and Hypermethioninemia. Among its related pathways are Metabolism and Methylation Pathways. Gene Ontology (GO) annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.

UniProtKB/Swiss-Prot for MAT1A Gene

  • Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate.

Additional gene information for MAT1A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAT1A Gene

Genomics for MAT1A Gene

GeneHancer (GH) Regulatory Elements for MAT1A Gene

Promoters and enhancers for MAT1A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J080289 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 +0.0 18 1.6 FOXA2 MLX ARID4B DMAP1 YY1 ZNF766 ATF7 RXRA SP5 MXD4 MAT1A MBL1P GC10M080275 PIR36250
GH10J080291 Enhancer 0.9 ENCODE 650.7 -1.1 -1141 0.2 FOXA2 ARID4B DMAP1 YY1 NFKBIZ RXRA SP5 MXD4 REST PPARG MAT1A DYDC2 DYDC1 ZNF519P1
GH10J080290 Enhancer 0.9 ENCODE 650.7 -0.9 -881 0.2 ELF3 FOXA2 ARID4B DMAP1 RARA EGR1 THAP11 MIXL1 NFKBIZ RXRA MAT1A DYDC2 DYDC1 MBL1P ZNF519P1
GH10J080192 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 +88.7 88702 16.8 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 MEF2D ZNF610 GLIS1 ANXA11 MBL1P ENSG00000235858 LINC00857 ENSG00000272489 MAT1A DYDC2 PLAC9 SH2D4B LOC642361
GH10J080265 Enhancer 0.7 ENCODE 28.5 +23.6 23622 1.3 HDAC1 TEAD4 TAL1 MAX TCF12 GATA2 HNF4G CBFA2T2 NR2F6 EGR2 MAT1A FAM213A DYDC2 DYDC1 ENSG00000235858 PIR41962 PIR35729 GC10P082081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAT1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAT1A gene promoter:
  • FOXO1a
  • FOXO1
  • Brachyury
  • AML1a
  • C/EBPalpha
  • Nkx2-2
  • Zic3
  • Lhx3a
  • LHX3b

Genomic Locations for MAT1A Gene

Genomic Locations for MAT1A Gene
18,160 bases
Minus strand
17,865 bases
Minus strand

Genomic View for MAT1A Gene

Genes around MAT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAT1A Gene

Proteins for MAT1A Gene

  • Protein details for MAT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    S-adenosylmethionine synthase isoform type-1
    Protein Accession:
    Secondary Accessions:
    • D3DWD5
    • Q5QP09

    Protein attributes for MAT1A Gene

    395 amino acids
    Molecular mass:
    43648 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Quaternary structure:
    • Homotetramer (MAT-I); dimer of dimers (PubMed:23425511). Homodimer (MAT-III) (By similarity).

    Three dimensional structures from OCA and Proteopedia for MAT1A Gene

neXtProt entry for MAT1A Gene

Post-translational modifications for MAT1A Gene

  • S-nitrosylation of Cys-120 inactivates the enzyme.
  • An intrachain disulfide bond can be formed. The protein structure shows that the relevant Cys residues are in a position that would permit formation of a disulfide bond.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAT1A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAT1A Gene

Domains & Families for MAT1A Gene

Gene Families for MAT1A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MAT1A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AdoMet synthase family.
  • Belongs to the AdoMet synthase family.
genes like me logo Genes that share domains with MAT1A: view

Function for MAT1A Gene

Molecular function for MAT1A Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + H(2)O = phosphate + diphosphate + S-adenosyl-L-methionine.
GENATLAS Biochemistry:
methionine adenosyltransferase,specifically expressed in liver,sulfur aminoacid metabolism

Enzyme Numbers (IUBMB) for MAT1A Gene

Gene Ontology (GO) - Molecular Function for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004478 methionine adenosyltransferase activity IEA,TAS --
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with MAT1A: view
genes like me logo Genes that share phenotypes with MAT1A: view

Human Phenotype Ontology for MAT1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAT1A Gene

MGI Knock Outs for MAT1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAT1A

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for MAT1A Gene

Localization for MAT1A Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAT1A gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS,IBA --
genes like me logo Genes that share ontologies with MAT1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MAT1A Gene

Pathways & Interactions for MAT1A Gene

genes like me logo Genes that share pathways with MAT1A: view

UniProtKB/Swiss-Prot Q00266-METK1_HUMAN

  • Pathway: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1.

Interacting Proteins for MAT1A Gene

Gene Ontology (GO) - Biological Process for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0001887 selenium compound metabolic process TAS --
GO:0006556 S-adenosylmethionine biosynthetic process IMP,IEA 10677294
GO:0006730 one-carbon metabolic process IEA --
GO:0009087 methionine catabolic process IMP 10677294
genes like me logo Genes that share ontologies with MAT1A: view

No data available for SIGNOR curated interactions for MAT1A Gene

Drugs & Compounds for MAT1A Gene

(20) Drugs for MAT1A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Enzyme, substrate 102
Ademetionine Approved, Investigational Nutra Target, cofactor 0
Phosphoric acid Approved Pharma 0
Potassium Approved, Investigational Pharma 0
Selenomethionine Approved, Investigational Pharma 0

(10) Additional Compounds for MAT1A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
genes like me logo Genes that share compounds with MAT1A: view

Transcripts for MAT1A Gene

mRNA/cDNA for MAT1A Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(109) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAT1A Gene

Methionine adenosyltransferase I, alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAT1A

Alternative Splicing Database (ASD) splice patterns (SP) for MAT1A Gene

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

Relevant External Links for MAT1A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MAT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAT1A Gene

This gene is overexpressed in Liver (x50.1).

Protein differential expression in normal tissues from HIPED for MAT1A Gene

This gene is overexpressed in Gallbladder (33.2), Liver (16.4), and Liver, secretome (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAT1A Gene

Protein tissue co-expression partners for MAT1A Gene

NURSA nuclear receptor signaling pathways regulating expression of MAT1A Gene:


SOURCE GeneReport for Unigene cluster for MAT1A Gene:


mRNA Expression by UniProt/SwissProt for MAT1A Gene:

Tissue specificity: Expressed in liver.

Evidence on tissue expression from TISSUES for MAT1A Gene

  • Liver(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAT1A Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • head
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MAT1A: view

Orthologs for MAT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAT1A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MAT1A 34 33
  • 99.16 (n)
(Monodelphis domestica)
Mammalia MAT1A 34
  • 94 (a)
(Canis familiaris)
Mammalia MAT1A 34 33
  • 90.38 (n)
(Rattus norvegicus)
Mammalia Mat1a 33
  • 89.37 (n)
(Bos Taurus)
Mammalia MAT1A 34 33
  • 89.2 (n)
(Mus musculus)
Mammalia Mat1a 16 34 33
  • 88.52 (n)
(Ornithorhynchus anatinus)
Mammalia MAT1A 34
  • 80 (a)
(Gallus gallus)
Aves MAT1A 34 33
  • 78.31 (n)
(Anolis carolinensis)
Reptilia MAT1A 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mat1a 33
  • 74.51 (n)
(Danio rerio)
Actinopterygii mat1a 34 33
  • 76.87 (n)
wufi35e01 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.296 33
fruit fly
(Drosophila melanogaster)
Insecta M(2)21AB 35
  • 72 (a)
Sam-S 34
  • 66 (a)
(Caenorhabditis elegans)
Secernentea C06E7.1a 35
  • 72 (a)
C49F5.1 35
  • 69 (a)
sams-4 34
  • 67 (a)
sams-3 34
  • 67 (a)
sams-5 34
  • 67 (a)
sams-1 34
  • 65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM1 36 34
  • 68 (a)
SAM2 34
  • 67 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SAM-2 33
  • 62.07 (n)
(Glycine max)
eudicotyledons Gma.1681 33
(Oryza sativa)
Liliopsida Os01g0293000 33
  • 63.84 (n)
(Zea mays)
Liliopsida Zm.5785 33
(Hordeum vulgare)
Liliopsida Hv.2038 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10263 34
  • 61 (a)
Cin.4392 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4392 33
Species where no ortholog for MAT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAT1A Gene

Gene Tree for MAT1A (if available)
Gene Tree for MAT1A (if available)
Evolutionary constrained regions (ECRs) for MAT1A: view image

Paralogs for MAT1A Gene

Paralogs for MAT1A Gene

(1) SIMAP similar genes for MAT1A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MAT1A: view

Variants for MAT1A Gene

Sequence variations from dbSNP and Humsavar for MAT1A Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1005196178 uncertain-significance, Hepatic methionine adenosyltransferase deficiency 80,273,367(-) G/A/C 3_prime_UTR_variant
rs1017464207 uncertain-significance, Hepatic methionine adenosyltransferase deficiency 80,273,054(-) A/G 3_prime_UTR_variant
rs10509413 likely-benign, Hepatic methionine adenosyltransferase deficiency 80,273,252(-) C/T 3_prime_UTR_variant
rs1065766 uncertain-significance, Hepatic methionine adenosyltransferase deficiency 80,273,682(-) T/A 3_prime_UTR_variant
rs10694757 uncertain-significance, benign, Hepatic methionine adenosyltransferase deficiency 80,289,496(-) TTCTTCTTCTTCTTCTTCTT/TTCTTCTTCTTCTTCTTCTTCTT/TTCTTCTTCTTCTTCTTCTTCTTCTT/TTCTTCTTCTTCTTCTTCTTCTTCTTCTT 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for MAT1A Gene

Variant ID Type Subtype PubMed ID
nsv1141879 OTHER inversion 24896259

Variation tolerance for MAT1A Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAT1A Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAT1A Gene

Disorders for MAT1A Gene

MalaCards: The human disease database

(9) MalaCards diseases for MAT1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methionine adenosyltransferase i/iii deficiency
  • mat deficiency
  • mat deficiency
methionine adenosyltransferase deficiency
  • mat deficiency
glycine n-methyltransferase deficiency
  • gnmt deficiency
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
- elite association - COSMIC cancer census association via MalaCards
Search MAT1A in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:10677294, ECO:0000269 PubMed:7560086, ECO:0000269 PubMed:8770875, ECO:0000269 PubMed:9042912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MAT1A Gene

hypermethioninemia,persistent with brain demyelination in homozygote

Additional Disease Information for MAT1A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAT1A: view

Publications for MAT1A Gene

  1. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. (PMID: 8770875) Chamberlin ME … Chou JY (The Journal of clinical investigation 1996) 3 4 22 44 58
  2. MAT1A variants are associated with hypertension, stroke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folate. (PMID: 20335551) Lai CQ … Ordovás JM (The American journal of clinical nutrition 2010) 3 22 44 58
  3. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. (PMID: 10677294) Chamberlin ME … Chou JY (American journal of human genetics 2000) 3 4 22 58
  4. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. (PMID: 9042912) Chamberlin ME … Chou JY (American journal of human genetics 1997) 3 4 22 58
  5. Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. (PMID: 7560086) Ubagai T … Chou JY (The Journal of clinical investigation 1995) 3 4 22 58

Products for MAT1A Gene

Sources for MAT1A Gene

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