MAT1A

Protein identityUniProt · HPA

UniProt accession

Q00266

Gene

MAT1A

Ensembl

ENSG00000151224

Chromosome

10

Canonical length

395 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>Q00266|MAT1A
     1  MNGPVDGLCD HSLSEGVFMF TSESVGEGHP DKICDQISDA VLDAHLKQDP NAKVACETVC
    61  KTGMVLLCGE ITSMAMVDYQ RVVRDTIKHI GYDDSAKGFD FKTCNVLVAL EQQSPDIAQC
   121  VHLDRNEEDV GAGDQGLMFG YATDETEECM PLTIILAHKL NARMADLRRS GLLPWLRPDS
   181  KTQVTVQYMQ DNGAVIPVRI HTIVISVQHN EDITLEEMRR ALKEQVIRAV VPAKYLDEDT
   241  VYHLQPSGRF VIGGPQGDAG VTGRKIIVDT YGGWGAHGGG AFSGKDYTKV DRSAAYAARW
   301  VAKSLVKAGL CRRVLVQVSY AIGVAEPLSI SIFTYGTSQK TERELLDVVH KNFDLRPGVI
   361  VRDLDLKKPI YQKTACYGHF GRSEFPWEVP RKLVF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAT1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

1,260 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAT1A.

Disease | AllUniProt

Conditions MAT1A is implicated in, by any mechanism.

• Methionine adenosyltransferase deficiency (MATD) MIM:250850

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 422 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hepatic methionine adenosyltransferase deficiency
• MAT1A-related disorder
• Colon adenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.81

gnomAD pLI

0

gnomAD missense Z

1.65

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• one-carbon metabolic process
• protein homotetramerization
• S-adenosylmethionine biosynthetic process
• L-methionine catabolic process

Molecular functions

• ATP binding
• identical protein binding
• metal ion binding
• methionine adenosyltransferase activity

Cellular components

• cytosol
• methionine adenosyltransferase complex

Protein domainsUniProt · Pfam · InterPro

• S-adenosylmethionine synthetase
• S-adenosylmethionine synthetase, N-terminal
• S-adenosylmethionine synthetase, central domain
• S-adenosylmethionine synthetase, C-terminal
• S-adenosylmethionine synthetase, conserved site
• S-adenosylmethionine synthetase superfamily
• S-adenosylmethionine synthetase, N-terminal domain
• S-adenosylmethionine synthetase, central domain
• S-adenosylmethionine synthetase, C-terminal domain

KeywordsUniProt

• ATP-binding
• Disulfide bond
• Magnesium
• Metal-binding
• Nucleotide-binding
• One-carbon metabolism
• Potassium
• S-nitrosylation
• Transferase

InteractionsUniProt · HPA

Protein binding partners of MAT1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MAT2A