Human Gene MAT1A (ENST00000372213.8_7) from GENCODE V47lift37
  Description: methionine adenosyltransferase 1A (from RefSeq NM_000429.3)
Gencode Transcript: ENST00000372213.8_7
Gencode Gene: ENSG00000151224.13_11
Transcript (Including UTRs)
   Position: hg19 chr10:82,031,576-82,049,414 Size: 17,839 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:82,033,537-82,049,179 Size: 15,643 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:82,031,576-82,049,414)mRNA (may differ from genome)Protein (395 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: METK1_HUMAN
DESCRIPTION: RecName: Full=S-adenosylmethionine synthase isoform type-1; Short=AdoMet synthase 1; EC=2.5.1.6; AltName: Full=Methionine adenosyltransferase 1; Short=MAT 1; AltName: Full=Methionine adenosyltransferase I/III; Short=MAT-I/III;
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.
COFACTOR: Binds 2 divalent ions per subunit. Magnesium or cobalt (By similarity).
COFACTOR: Binds 1 potassium ion per subunit (By similarity).
PATHWAY: Amino-acid biosynthesis; S-adenosyl-L-methionine biosynthesis; S-adenosyl-L-methionine from L-methionine: step 1/1.
SUBUNIT: Homotetramer (MAT-I) or homodimer (MAT-III).
TISSUE SPECIFICITY: Expressed in liver.
PTM: S-nitrosylation of Cys-120 inactivates the enzyme (By similarity).
DISEASE: Defects in MAT1A are the cause of methionine adenosyltransferase deficiency (MATD) [MIM:250850]; also called MAT I/III deficiency. MATD is 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.
SIMILARITY: Belongs to the AdoMet synthase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAT1A";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAT1A
Diseases sorted by gene-association score: hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency* (1650), hypermethioninemia* (449), methionine adenosyltransferase deficiency (53), glycine n-methyltransferase deficiency (13), alpha-methylacetoacetic aciduria (12), cataract 4, multiple types (6), liver cirrhosis (4), hepatocellular carcinoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 455.13 RPKM in Liver
Total median expression: 485.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.10235-0.324 Picture PostScript Text
3' UTR -764.901961-0.390 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022631 - ADOMET_SYNTHASE_CS
IPR022630 - S-AdoMet_synt_C
IPR022629 - S-AdoMet_synt_central
IPR022628 - S-AdoMet_synt_N
IPR002133 - S-AdoMet_synthetase
IPR022636 - S-AdoMet_synthetase_sfam

Pfam Domains:
PF00438 - S-adenosylmethionine synthetase, N-terminal domain
PF02772 - S-adenosylmethionine synthetase, central domain
PF02773 - S-adenosylmethionine synthetase, C-terminal domain

SCOP Domains:
55973 - S-adenosylmethionine synthetase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OBV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q00266
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004478 methionine adenosyltransferase activity
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0098601 selenomethionine adenosyltransferase activity

Biological Process:
GO:0000096 sulfur amino acid metabolic process
GO:0001887 selenium compound metabolic process
GO:0006556 S-adenosylmethionine biosynthetic process
GO:0006730 one-carbon metabolic process
GO:0009087 methionine catabolic process
GO:0032259 methylation
GO:0051289 protein homotetramerization

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ897168 - Synthetic construct Homo sapiens clone ccsbBroadEn_06562 MAT1A gene, encodes complete protein.
KR709422 - Synthetic construct Homo sapiens clone CCSBHm_00002057 MAT1A (MAT1A) mRNA, encodes complete protein.
KR709423 - Synthetic construct Homo sapiens clone CCSBHm_00002059 MAT1A (MAT1A) mRNA, encodes complete protein.
KR709424 - Synthetic construct Homo sapiens clone CCSBHm_00002062 MAT1A (MAT1A) mRNA, encodes complete protein.
KR709425 - Synthetic construct Homo sapiens clone CCSBHm_00002065 MAT1A (MAT1A) mRNA, encodes complete protein.
X69078 - H.sapiens mRNA for S-adenosylmethionine synthetase.
BC018359 - Homo sapiens methionine adenosyltransferase I, alpha, mRNA (cDNA clone MGC:17089 IMAGE:4341915), complete cds.
AK026931 - Homo sapiens cDNA: FLJ23278 fis, clone HEP05402, highly similar to HSSAMAA Homo sapiens mRNA for S-adenosylmethionine synthetase.
JD336061 - Sequence 317085 from Patent EP1572962.
JD125468 - Sequence 106492 from Patent EP1572962.
JD360768 - Sequence 341792 from Patent EP1572962.
JD333832 - Sequence 314856 from Patent EP1572962.
JD259335 - Sequence 240359 from Patent EP1572962.
JD355994 - Sequence 337018 from Patent EP1572962.
JD387991 - Sequence 369015 from Patent EP1572962.
JD123743 - Sequence 104767 from Patent EP1572962.
JD117605 - Sequence 98629 from Patent EP1572962.
JD186937 - Sequence 167961 from Patent EP1572962.
JD559864 - Sequence 540888 from Patent EP1572962.
JD077326 - Sequence 58350 from Patent EP1572962.
DQ580851 - Homo sapiens piRNA piR-48963, complete sequence.
JD072994 - Sequence 54018 from Patent EP1572962.
JD488740 - Sequence 469764 from Patent EP1572962.
JD369829 - Sequence 350853 from Patent EP1572962.
JD131176 - Sequence 112200 from Patent EP1572962.
JD101460 - Sequence 82484 from Patent EP1572962.
DQ575139 - Homo sapiens piRNA piR-43251, complete sequence.
JD562403 - Sequence 543427 from Patent EP1572962.
AK290820 - Homo sapiens cDNA FLJ76034 complete cds, highly similar to Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.
JD174342 - Sequence 155366 from Patent EP1572962.
JD516266 - Sequence 497290 from Patent EP1572962.
JD114098 - Sequence 95122 from Patent EP1572962.
JD499233 - Sequence 480257 from Patent EP1572962.
JD335625 - Sequence 316649 from Patent EP1572962.
JD040189 - Sequence 21213 from Patent EP1572962.
JD412255 - Sequence 393279 from Patent EP1572962.
JD519400 - Sequence 500424 from Patent EP1572962.
JD338020 - Sequence 319044 from Patent EP1572962.
JD124329 - Sequence 105353 from Patent EP1572962.
JD066530 - Sequence 47554 from Patent EP1572962.
D49357 - Homo sapiens mRNA for S-adenosylmethionine synthetase, complete cds.
JD424051 - Sequence 405075 from Patent EP1572962.
JD471739 - Sequence 452763 from Patent EP1572962.
JD551916 - Sequence 532940 from Patent EP1572962.
JD173450 - Sequence 154474 from Patent EP1572962.
JD382306 - Sequence 363330 from Patent EP1572962.
JD456120 - Sequence 437144 from Patent EP1572962.
JD055805 - Sequence 36829 from Patent EP1572962.
JD216055 - Sequence 197079 from Patent EP1572962.
JD344565 - Sequence 325589 from Patent EP1572962.
DQ891073 - Synthetic construct clone IMAGE:100003703; FLH169086.01X; RZPDo839G0494D methionine adenosyltransferase I, alpha (MAT1A) gene, encodes complete protein.
DQ894256 - Synthetic construct Homo sapiens clone IMAGE:100008716; FLH169082.01L; RZPDo839G0493D methionine adenosyltransferase I, alpha (MAT1A) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
METHIONINE-DEG1-PWY - L-methionine degradation
PWY-5328 - superpathway of methionine degradation
PWY-6292 - L-cysteine biosynthesis
PWY-7527 - L-methionine salvage cycle
SAM-PWY - S-adenosyl-L-methionine biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q00266 (Reactome details) participates in the following event(s):

R-HSA-174391 MAT1A multimers transfer Ado from ATP to L-Met
R-HSA-2408551 SeMet is converted to AdoSeMet by MAT
R-HSA-156581 Methylation
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-2408508 Metabolism of ingested SeMet, Sec, MeSec into H2Se
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AMS1, D3DWD5, ENST00000372213.1, ENST00000372213.2, ENST00000372213.3, ENST00000372213.4, ENST00000372213.5, ENST00000372213.6, ENST00000372213.7, MATA1, METK1_HUMAN, NM_000429, Q00266, Q5QP09, uc318jsw.1, uc318jsw.2
UCSC ID: ENST00000372213.8_7
RefSeq Accession: NM_000429.3
Protein: Q00266 (aka METK1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.