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Aliases for MAT1A Gene

Aliases for MAT1A Gene

  • 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 63
  • MAT-I/III 3 4
  • MAT 1 3 4
  • MATA1 3 4
  • S-Adenosylmethionine Synthetase Isoform Type-1 3
  • S-Adenosylmethionine Synthetase 2
  • AdoMet Synthetase 1 3
  • 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 I, Alpha) is a Protein Coding gene. Diseases associated with MAT1A include brain demyelination due to methionine adenosyltransferase deficiency and hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency. Among its related pathways are Metabolism and Carbon metabolism. 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

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

Genomics for MAT1A Gene

Regulatory Elements for MAT1A Gene

Genomic Location for MAT1A Gene

Chromosome:
10
Start:
80,271,820 bp from pter
End:
80,289,979 bp from pter
Size:
18,160 bases
Orientation:
Minus strand

Genomic View for MAT1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=K(+); Xref=ChEBI:CHEBI:29103; Note=Binds 1 potassium ion per subunit.;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Note=Binds 2 divalent ions per subunit. Magnesium or cobalt.;
    Quaternary structure:
    • Homotetramer (MAT-I) or homodimer (MAT-III).

    Three dimensional structures from OCA and Proteopedia for MAT1A Gene

neXtProt entry for MAT1A Gene

Proteomics data for MAT1A Gene at MOPED

Post-translational modifications for MAT1A Gene

Other Protein References for MAT1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAT1A Gene

Suggested Antigen Peptide Sequences for MAT1A Gene

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

No data available for Gene Families for MAT1A Gene

Function for MAT1A Gene

Molecular function for MAT1A Gene

GENATLAS Biochemistry:
methionine adenosyltransferase,specifically expressed in liver,sulfur aminoacid metabolism
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-methionine + H(2)O = phosphate + diphosphate + S-adenosyl-L-methionine
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of S-adenosylmethionine from methionine and ATP

Enzyme Numbers (IUBMB) for MAT1A Gene

Gene Ontology (GO) - Molecular Function for MAT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004478 methionine adenosyltransferase activity IEA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MAT1A: view

Phenotypes for MAT1A Gene

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

Animal Models for MAT1A Gene

MGI Knock Outs for MAT1A:

Animal Model Products

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

Localization for MAT1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAT1A Gene COMPARTMENTS Subcellular localization image for MAT1A gene
Compartment Confidence
cytosol 3
mitochondrion 1
nucleus 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 for MAT1A Gene

Pathways & Interactions for MAT1A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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

Selected Interacting proteins: Q00266-METK1_HUMAN for MAT1A Gene via I2D

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:0006520 cellular amino acid metabolic process TAS 1772450
GO:0006556 S-adenosylmethionine biosynthetic process IEA --
GO:0006730 one-carbon metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
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: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra Target, cofactor 0
L-Methionine Approved Nutra Enzyme, substrate 0
Adenosine triphosphate Approved Nutra 0
Dopamine Approved Pharma Full agonist, Agonist 2814
Ethanol Approved Pharma 1708

(11) Additional Compounds for MAT1A Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Se-Adenosylselenomethionine
selenomethionine
  • (+-)-Selenomethionine
  • (2S)-2-amino-4-(methylseleno)butanoate
  • (2S)-2-amino-4-(methylseleno)butanoic acid
  • (S)-2-amino-4-(methylseleno)-Butanoate
  • (S)-2-amino-4-(methylseleno)-Butanoic acid
3211-76-5
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MAT1A: view

Transcripts for MAT1A Gene

Unigene Clusters for MAT1A Gene

Methionine adenosyltransferase I, alpha:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MAT1A

Expression for MAT1A Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for MAT1A Gene



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
genes like me logo Genes that share expression patterns with MAT1A: view

Protein tissue co-expression partners for MAT1A Gene

Primer Products

In Situ Assay Products

Orthologs for MAT1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAT1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAT1A 35
  • 89.2 (n)
  • 95.7 (a)
MAT1A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAT1A 35
  • 90.38 (n)
  • 96.2 (a)
MAT1A 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mat1a 35
  • 88.52 (n)
  • 96.46 (a)
Mat1a 16
Mat1a 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAT1A 35
  • 99.16 (n)
  • 100 (a)
MAT1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mat1a 35
  • 89.37 (n)
  • 96.2 (a)
oppossum
(Monodelphis domestica)
Mammalia MAT1A 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAT1A 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAT1A 35
  • 78.31 (n)
  • 91.14 (a)
MAT1A 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAT1A 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mat1a 35
  • 74.51 (n)
  • 85.06 (a)
zebrafish
(Danio rerio)
Actinopterygii mat1a 35
  • 76.87 (n)
  • 84.96 (a)
wufi35e01 35
mat1a 36
  • 83 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.296 35
fruit fly
(Drosophila melanogaster)
Insecta M(2)21AB 37
  • 72 (a)
Sam-S 36
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C06E7.1a 37
  • 72 (a)
C49F5.1 37
  • 69 (a)
sams-1 36
  • 65 (a)
ManyToMany
sams-3 36
  • 67 (a)
ManyToMany
sams-4 36
  • 67 (a)
ManyToMany
sams-5 36
  • 67 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM1 36
  • 68 (a)
ManyToMany
SAM2 36
  • 67 (a)
ManyToMany
SAM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SAM-2 35
  • 62.07 (n)
  • 62.86 (a)
soybean
(Glycine max)
eudicotyledons Gma.1681 35
barley
(Hordeum vulgare)
Liliopsida Hv.2038 35
rice
(Oryza sativa)
Liliopsida Os01g0293000 35
  • 63.84 (n)
  • 63.4 (a)
corn
(Zea mays)
Liliopsida Zm.5785 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4392 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10263 36
  • 61 (a)
OneToMany
Species with no ortholog for MAT1A:
  • 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

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

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 Sequence Context AA Info Type MAF
rs15293 -- 80,271,927(+) TAGAG(A/G)GTAGG utr-variant-3-prime
rs756208 -- 80,281,995(+) ACCCC(A/G)GGGCA intron-variant
rs873395 -- 80,277,459(-) CTCCT(A/G)CTTCT intron-variant
rs1043846 -- 80,272,335(-) CACCT(C/G)CCCTA utr-variant-3-prime
rs1065766 -- 80,273,682(-) CCACC(A/T)ACCCT utr-variant-3-prime

Variation tolerance for MAT1A Gene

Residual Variation Intolerance Score: 16.67% 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)

Relevant External Links for MAT1A Gene

HapMap Linkage Disequilibrium report
MAT1A
Human Gene Mutation Database (HGMD)
MAT1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MAT1A Gene

Disorders for MAT1A Gene

MalaCards: The human disease database

(11) MalaCards diseases for MAT1A Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
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 mutations affecting the gene represented in this entry.

Genatlas disease for MAT1A Gene

hypermethioninemia,persistent with brain demyelination in homozygote

Relevant External Links for MAT1A

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

Publications for MAT1A Gene

  1. Effect of hepatocyte growth factor on methionine adenosyltransferase genes and growth is cell density-dependent in HepG2 cells. (PMID: 17154373) Yang H. … Lu S.C. (J. Cell. Physiol. 2007) 23 25 26 67
  2. Role of methionine adenosyltransferase 2A and S-adenosylmethionine in mitogen-induced growth of human colon cancer cells. (PMID: 17631143) Chen H. … Lu S.C. (Gastroenterology 2007) 23 25 26 67
  3. S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity. (PMID: 16614071) Prudova A. … Banerjee R. (Proc. Natl. Acad. Sci. U.S.A. 2006) 23 25 26 67
  4. L-methionine availability regulates expression of the methionine adenosyltransferase 2A gene in human hepatocarcinoma cells: role of S-adenosylmethionine. (PMID: 12660248) MartA-nez-Chantar M.L. … Avila M.A. (J. Biol. Chem. 2003) 23 25 67
  5. Methionine adenosyltransferase II beta subunit gene expression provides a proliferative advantage in human hepatoma. (PMID: 12671891) Martinez-Chantar M.L. … Mato J.M. (Gastroenterology 2003) 23 25 67

Products for MAT1A Gene

Sources for MAT1A Gene

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