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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
  • EC 2.5.1.6 4 61
  • 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
  • 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 Hypermethioninemia, Persistent, Autosomal Dominant, Due To Methionine Adenosyltransferase I/Iii Deficiency and Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. 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.

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

Enhancers for MAT1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F080321 1.1 FANTOM5 38 -31.5 -31463 0.1 MAT1A TMEM254 ENSG00000235858 ZNF519P1
GH10F080265 1.2 Ensembl ENCODE 28.4 +23.6 23623 1.3 ESRRA RNF2 MTA2 SP5 NR2F1 TAL1 BHLHE40 NR2F2 ARID1B GATA2 MAT1A FAM213A DYDC2 DYDC1 PIR41962 PIR35729 GC10P080318
GH10F080251 0.2 Ensembl 18.5 +36.7 36679 3.4 SCRT1 GATA3 ZNF687 PKNOX1 SCRT2 MNT DPF2 MAT1A DYDC2 DYDC1 LINC00857 ENSG00000234382 ANXA11 GC10P080318 PIR35729 PIR41962
GH10F080281 0.2 ENCODE 17.9 +8.0 8000 0.2 ATF1 MLX DMAP1 YY1 SLC30A9 PPARG KAT8 MIER3 ATF4 ETV4 MAT1A GC10M080275 PIR36250
GH10F080222 0.5 Ensembl 10.4 +67.3 67301 0.6 CTCF ZNF362 ZNF654 TRIM22 ZNF384 REST RAD21 ZFP69B ZNF692 SMC3 MAT1A RPS12P2 ENSG00000234382
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAT1A on UCSC Golden Path with GeneCards custom track

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

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=K(+); Xref=ChEBI:CHEBI:29103;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    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

  • 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.
  • S-nitrosylation of Cys-120 inactivates the enzyme.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAT1A Gene

Antibody Products

  • Abcam antibodies for MAT1A

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. 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.

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:0046872 metal ion binding 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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 --
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

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 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
S-Adenosylmethionine Approved Nutra Target, cofactor 0
L-Methionine Approved Nutra Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Potassium Approved Pharma 0
Water Approved Pharma 0

(10) 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
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for MAT1A Gene



Protein tissue co-expression partners for MAT1A Gene

NURSA nuclear receptor signaling pathways regulating expression of MAT1A Gene:

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MAT1A 34 35
  • 99.16 (n)
oppossum
(Monodelphis domestica)
Mammalia MAT1A 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAT1A 34 35
  • 90.38 (n)
rat
(Rattus norvegicus)
Mammalia Mat1a 34
  • 89.37 (n)
cow
(Bos Taurus)
Mammalia MAT1A 34 35
  • 89.2 (n)
mouse
(Mus musculus)
Mammalia Mat1a 34 16 35
  • 88.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAT1A 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAT1A 34 35
  • 78.31 (n)
lizard
(Anolis carolinensis)
Reptilia MAT1A 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mat1a 34
  • 74.51 (n)
zebrafish
(Danio rerio)
Actinopterygii mat1a 34 35
  • 76.87 (n)
wufi35e01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.296 34
fruit fly
(Drosophila melanogaster)
Insecta M(2)21AB 36
  • 72 (a)
Sam-S 35
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C06E7.1a 36
  • 72 (a)
C49F5.1 36
  • 69 (a)
sams-3 35
  • 67 (a)
ManyToMany
sams-4 35
  • 67 (a)
ManyToMany
sams-5 35
  • 67 (a)
ManyToMany
sams-1 35
  • 65 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM1 35 37
  • 68 (a)
ManyToMany
SAM2 35
  • 67 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SAM-2 34
  • 62.07 (n)
soybean
(Glycine max)
eudicotyledons Gma.1681 34
rice
(Oryza sativa)
Liliopsida Os01g0293000 34
  • 63.84 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2038 34
corn
(Zea mays)
Liliopsida Zm.5785 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10263 35
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4392 34
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

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
rs118204001 Pathogenic, Methionine adenosyltransferase deficiency (MATD) [MIM:250850] 80,274,639(-) GCCAT(G/T)GGTGT reference, missense
rs118204002 Methionine adenosyltransferase deficiency (MATD) [MIM:250850], Pathogenic 80,285,517(-) GGTGG(A/C/T)CTGTG reference, missense
rs118204003 Pathogenic, Methionine adenosyltransferase deficiency (MATD) [MIM:250850] 80,274,535(-) CCGGC(C/T)GGGCG reference, missense
rs118204004 Pathogenic, Methionine adenosyltransferase deficiency (MATD) [MIM:250850] 80,275,054(-) GTCTC(C/T)GGTGA reference, missense
rs118204005 Methionine adenosyltransferase deficiency (MATD) [MIM:250850], Pathogenic 80,275,178(-) CTGGC(C/T)GTAAG reference, missense

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)

Relevant External Links for MAT1A Gene

Human Gene Mutation Database (HGMD)
MAT1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAT1A

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

Disorders for MAT1A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency
  • methionine adenosyltransferase deficiency, autosomal recessive
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
  • glycine n-methyltransferase deficiency
glycine n-methyltransferase deficiency
  • hypermethioninemia
homocystinuria, b6-responsive and nonresponsive types
  • thrombosis, hyperhomocysteinemic
alpha-methylacetoacetic aciduria
  • beta-ketothiolase 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 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. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. (PMID: 8770875) Chamberlin M.E. … Chou J.Y. (J. Clin. Invest. 1996) 3 4 22 46 64
  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 C.Q. … OrdovA!s J.M. (Am. J. Clin. Nutr. 2010) 3 22 46 64
  3. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. (PMID: 10677294) Chamberlin M.E. … Chou J.Y. (Am. J. Hum. Genet. 2000) 3 4 22 64
  4. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. (PMID: 9042912) Chamberlin M.E. … Chou J.Y. (Am. J. Hum. Genet. 1997) 3 4 22 64
  5. Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. (PMID: 7560086) Ubagai T. … Chou J.Y. (J. Clin. Invest. 1995) 3 4 22 64

Products for MAT1A Gene

Sources for MAT1A Gene

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