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... See more...

Aliases for MAT1A Gene

Aliases for MAT1A Gene

  • Methionine Adenosyltransferase 1A 2 3 5
  • MATA1 2 3 4
  • S-Adenosylmethionine Synthase Isoform Type-1 3 4
  • Methionine Adenosyltransferase I, Alpha 2 3
  • Methionine Adenosyltransferase I/III 3 4
  • Methionine Adenosyltransferase 1 3 4
  • AdoMet Synthase 1 3 4
  • EC 2.5.1.6 4 50
  • MAT-I/III 3 4
  • SAMS1 2 3
  • MAT 1 3 4
  • SAMS 2 3
  • MAT 2 3
  • S-Adenosylmethionine Synthetase 2
  • AdoMet Synthetase 1 3
  • MAT1A 5
  • AMS1 4

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 One carbon pool by folate and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include methionine adenosyltransferase activity. An important paralog of this gene is MAT2A.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAT1A Gene

Genomics for MAT1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAT1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 250.7 -0.3 -303 1.6 CEBPA ZIC2 CHD4 YY1 MXD4 NONO KLF11 BHLHE40 ZNF341 KMT2B MAT1A MBL1P lnc-DYDC2-4 DYDC2
GH10J080291 Enhancer 0.9 ENCODE 250.7 -1.5 -1462 0.2 KLF9 CEBPA ATF3 JUND MXD4 KLF11 HOMEZ KMT2B THAP11 FOXA2 MAT1A DYDC2 DYDC1 lnc-DYDC2-4
GH10J080290 Enhancer 0.9 ENCODE 250.7 -1.2 -1202 0.2 KLF9 ATF3 MXD4 KLF11 HOMEZ KMT2B THAP11 FOXA2 KDM6A SMAD4 MAT1A DYDC2 DYDC1 MBL1P lnc-DYDC2-4
GH10J080287 Enhancer 0.3 Ensembl 250.7 +2.0 1957 0.2 TAF1 MAT1A piR-43251 ANXA11
GH10J080265 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 28.5 +23.5 23460 1.6 BHLHE40 RXRA JUND TAL1 STAT5A HDAC2 HNF4A TCF12 MTA2 NR2F6 HSALNG0079194 HSALNG0079196 MAT1A PRXL2A DYDC2 DYDC1 ENSG00000235858 LOC101929574 ANXA11
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAT1A

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

Genomic Locations for MAT1A Gene

Latest Assembly
chr10:80,271,820-80,289,658
(GRCh38/hg38)
Size:
17,839 bases
Orientation:
Minus strand

Previous Assembly
chr10:82,031,576-82,049,414
(GRCh37/hg19 by Entrez Gene)
Size:
17,839 bases
Orientation:
Minus strand

chr10:82,031,576-82,049,440
(GRCh37/hg19 by Ensembl)
Size:
17,865 bases
Orientation:
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:
    Q00266-METK1_HUMAN
    Recommended name:
    S-adenosylmethionine synthase isoform type-1
    Protein Accession:
    Q00266
    Secondary Accessions:
    • D3DWD5
    • Q5QP09

    Protein attributes for MAT1A Gene

    Size:
    395 amino acids
    Molecular mass:
    43648 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    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

Selected DME Specific Peptides for MAT1A Gene

Q00266:
  • GHPDKICD
  • AKVACETV
  • TGRKIIVDTYGG
  • IGYDDSAKGFD
  • PLSISIF
  • HGGGAFSGKD
  • FVIGGPQGD
  • VGAGDQG
  • GRFVIGGP
  • DLDLKKPIY
  • LPWLRPD
  • QVSYAIG
  • GAGDQGLMFGYA
  • HIGYDDS
  • YAIGVAEP
  • KTQVTVQY
  • LCGEITS
  • QDNGAVIP
  • VHLDRNEED
  • FTSESVGEGHPDK
  • VISVQHNEDITLE
  • DQISDAVLD
  • TKVDRSA
  • PAKYLDE
  • KTCNVLVALEQQSP
  • RVVRDTI
  • SDAVLDA
  • NFDLRPGVIV
  • MFGYATDET
  • LCRRVLVQVSY
  • CDQISDA
  • KVDRSAAY

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:

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

Protein Domains for MAT1A Gene

Suggested Antigen Peptide Sequences for MAT1A Gene

GenScript: Design optimal peptide antigens:
  • Methionine adenosyltransferase I, alpha (B1ANE6_HUMAN)
  • Methionine adenosyltransferase I/III (METK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00266

UniProtKB/Swiss-Prot:

METK1_HUMAN :
  • Belongs to the AdoMet synthase family.
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:
Reaction=ATP + H2O + L-methionine = diphosphate + phosphate + S-adenosyl-L-methionine; Xref=Rhea:RHEA:21080, ChEBI:CHEBI:15377, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474, ChEBI:CHEBI:57844, ChEBI:CHEBI:59789; EC=2.5.1.6; Evidence={ECO:0000269|PubMed:10677294};.
GENATLAS Biochemistry:
methionine adenosyltransferase,specifically expressed in liver,sulfur aminoacid metabolism

Enzyme Numbers (IUBMB) for MAT1A Gene

Phenotypes From GWAS Catalog 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,IDA 10677294
GO:0005515 protein binding IPI 28514442
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
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:

Inhibitory RNAs for research

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

No data available for Transcription Factor Targets and HOMER Transcription for MAT1A Gene

Localization for MAT1A Gene

Subcellular locations from

COMPARTMENTS
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 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
plasma membrane 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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.

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 IEA,IMP 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

(21) 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 125
Ademetionine Approved, Investigational Nutra Target, cofactor 0
Cobalt Approved, Experimental Pharma 212
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (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
485-80-3
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
Se-Adenosylselenomethionine
genes like me logo Genes that share compounds with MAT1A: view

Transcripts for MAT1A Gene

mRNA/cDNA for MAT1A Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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: -
SP3:

Relevant External Links for MAT1A Gene

GeneLoc Exon Structure for
MAT1A

Expression for MAT1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAT1A

SOURCE GeneReport for Unigene cluster for MAT1A Gene:

Hs.282670

mRNA Expression by UniProt/SwissProt for MAT1A Gene:

Q00266-METK1_HUMAN
Tissue specificity: Expressed in liver.

Evidence on tissue expression from TISSUES for MAT1A Gene

  • Liver(4.8)
  • Pancreas(2.2)
  • Blood(2)

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

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

Primer products for research

Orthologs for MAT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAT1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAT1A 29 30
  • 99.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MAT1A 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MAT1A 29 30
  • 90.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mat1a 29
  • 89.37 (n)
Cow
(Bos Taurus)
Mammalia MAT1A 29 30
  • 89.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mat1a 29 16 30
  • 88.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAT1A 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAT1A 29 30
  • 78.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAT1A 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mat1a 29
  • 74.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii mat1a 29 30
  • 76.87 (n)
OneToOne
wufi35e01 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.296 29
Fruit Fly
(Drosophila melanogaster)
Insecta M(2)21AB 31
  • 72 (a)
Sam-S 30
  • 66 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C06E7.1a 31
  • 72 (a)
C49F5.1 31
  • 69 (a)
sams-4 30
  • 67 (a)
ManyToMany
sams-3 30
  • 67 (a)
ManyToMany
sams-5 30
  • 67 (a)
ManyToMany
sams-1 30
  • 65 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM1 30 32
  • 68 (a)
ManyToMany
SAM2 30
  • 67 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SAM-2 29
  • 62.07 (n)
Soybean
(Glycine max)
eudicotyledons Gma.1681 29
Rice
(Oryza sativa)
Liliopsida Os01g0293000 29
  • 63.84 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2038 29
Corn
(Zea mays)
Liliopsida Zm.5785 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10263 30
  • 61 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4392 29
Species where no ortholog for MAT1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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

ENSEMBL:
Gene Tree for MAT1A (if available)
TreeFam:
Gene Tree for MAT1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAT1A: view image
Alliance of Genome Resources:
Additional Orthologs for MAT1A

Paralogs for MAT1A Gene

Paralogs for MAT1A Gene

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

  • METK1_HUMAN
  • B1ANE6_HUMAN
genes like me logo Genes that share paralogs with MAT1A: view

Variants for MAT1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAT1A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1004995 Uncertain Significance: Hepatic methionine adenosyltransferase deficiency 80,274,637(-) C/T
NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp)
MISSENSE
1006909 Uncertain Significance: Hepatic methionine adenosyltransferase deficiency 80,280,216(-) C/T
NM_000429.3(MAT1A):c.506G>A (p.Arg169His)
MISSENSE
1008331 Uncertain Significance: Hepatic methionine adenosyltransferase deficiency 80,276,461(-) C/T
NM_000429.3(MAT1A):c.683G>A (p.Arg228Lys)
MISSENSE
1016962 Uncertain Significance: Hepatic methionine adenosyltransferase deficiency 80,280,735(-) A/G
NM_000429.3(MAT1A):c.350T>C (p.Ile117Thr)
MISSENSE
1025123 Uncertain Significance: Hepatic methionine adenosyltransferase deficiency 80,276,534(-) C/T
NM_000429.3(MAT1A):c.610G>A (p.Val204Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAT1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
MAT1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAT1A
Leiden Open Variation Database (LOVD)
MAT1A

SNP Genotyping and Copy Number Assays for research

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

Disorders for MAT1A Gene

MalaCards: The human disease database

(13) MalaCards diseases for MAT1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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

UniProtKB/Swiss-Prot

METK1_HUMAN
  • 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 variants affecting the gene represented in this entry.

Genatlas disease for MAT1A Gene

hypermethioninemia,persistent with brain demyelination in homozygote

Additional Disease Information for MAT1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. 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 72
  3. 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 40
  4. Spectrum of hypermethioninemia in neonatal screening. (PMID: 15935930) Chien YH … Hwu WL (Early human development 2005) 3 22 72
  5. 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

Products for MAT1A Gene

Sources for MAT1A Gene