MAT1A methionine adenosyltransferase 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAT1Aprovided by HGNC
Official Full Name: methionine adenosyltransferase 1Aprovided by HGNC
Primary source: HGNC:HGNC:6903
See related: Ensembl:ENSG00000151224 MIM:610550; AllianceGenome:HGNC:6903
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAT; SAMS; MATA1; SAMS1
Summary: 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]
Expression: Restricted expression toward liver (RPKM 313.0) See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (80271820..80289658, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (81140919..81158757, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (82031576..82049414, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Depletion of mitochondrial methionine adenosyltransferase alpha1 triggers mitochondrial dysfunction in alcohol-associated liver disease.
Title: Depletion of mitochondrial methionine adenosyltransferase α1 triggers mitochondrial dysfunction in alcohol-associated liver disease.
Downregulation of Methionine Cycle Genes MAT1A and GNMT Enriches Protein-Associated Translation Process and Worsens Hepatocellular Carcinoma Prognosis.
Title: Downregulation of Methionine Cycle Genes MAT1A and GNMT Enriches Protein-Associated Translation Process and Worsens Hepatocellular Carcinoma Prognosis.
Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
Title: Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
Reciprocal Regulation Between Forkhead Box M1/NF-kappaB and Methionine Adenosyltransferase 1A Drives Liver Cancer.
Title: Reciprocal Regulation Between Forkhead Box M1/NF-κB and Methionine Adenosyltransferase 1A Drives Liver Cancer.
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.
Title: Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.
Three newborns were identified with MAT I/III deficiency by newborn screening were found to carry MAT1A gene variants including two missense variants [c.776C>T (p.Ala259Val) and c.791G>A (p.Arg264His)] and a synonymous variant [c.360C>T (p.Cys120Cys)]
Title: [Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].
Overexpression of MAT1A in 5637 bladder cancer cells increased tolerance to gemcitabine and stalled cell proliferation rates, suggesting MAT1A upregulation as a potential mechanism by which bladder cancer cells persist in a quiescent state to evade chemotherapy.
Title: Methionine Adenosyltransferase 1a (MAT1A) Enhances Cell Survival During Chemotherapy Treatment and is Associated with Drug Resistance in Bladder Cancer PDX Mice.
The simultaneous downregulation of MAT1A and upregulation of MAT2A are necessary and sufficient for hepatocellular carcinoma metastasis in the process of M1-M2 switch.
Title: A novel mechanism of the M1-M2 methionine adenosyltransferase switch-mediated hepatocellular carcinoma metastasis.
Increased MAT1A expression is associated with recurrence in hepatocellular carcinoma.
Title: Histological expression of methionine adenosyl transferase (MAT) 2A as a post-surgical prognostic surrogate in patients with hepatocellular carcinoma.
interplay between MATalpha1, c-Myc, and Maf proteins, and their deregulation during chronic cholestasis may facilitate cholangiocarcinoma oncogenesis
Title: Deregulated methionine adenosyltransferase α1, c-Myc, and Maf proteins together promote cholangiocarcinoma growth in mice and humans(‡).

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hepatic methionine adenosyltransferase deficiency MedGen: C0268621 OMIM: 250850 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15884 (e-PCR)
- UniSTS:45915

RH1570 (e-PCR)
- UniSTS:78953

MAT1A (e-PCR)
- UniSTS:511885

SHGC-142059 (e-PCR)
- UniSTS:171221

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methionine adenosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables methionine adenosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in S-adenosylmethionine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in S-adenosylmethionine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in S-adenosylmethionine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in S-adenosylmethionine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in S-adenosylmethionine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in methionine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in one-carbon metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of methionine adenosyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of methionine adenosyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: S-adenosylmethionine synthase isoform type-1

Names: MAT 1; MAT-I/III; adoMet synthase 1; adoMet synthetase 1; methionine adenosyltransferase 1; methionine adenosyltransferase I, alpha; methionine adenosyltransferase I/III

NP_000420.1

EC 2.5.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.