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

Gene ID: 4143, updated on 4-Jan-2025

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
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Genomic context

See MAT1A in Genome Data Viewer
Location:
10q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80271820..80289658, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81140919..81158757, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82031576..82049414, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3652 Neighboring gene uncharacterized LOC100130698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3653 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82016108-82016608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82016609-82017109 Neighboring gene Sharpr-MPRA regulatory region 3184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82024050-82024581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82024582-82025112 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:82032694-82033893 Neighboring gene Sharpr-MPRA regulatory region 13640 Neighboring gene zinc finger protein 519 pseudogene 1 Neighboring gene MPRA-validated peak1026 silencer Neighboring gene DPY30 domain containing 1 Neighboring gene DPY30 domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hepatic methionine adenosyltransferase deficiency
MedGen: C0268621 OMIM: 250850 GeneReviews: Not available
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Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables identical protein binding PubMed 
enables metal ion binding  
enables methionine adenosyltransferase activity  
enables methionine adenosyltransferase activity PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
is_active_in cytosol  
located_in cytosol  
part_of methionine adenosyltransferase complex PubMed 
part_of methionine adenosyltransferase complex  

General protein information

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

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.

Genomic

  1. NG_008083.1 RefSeqGene

    Range
    5021..22859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000429.3NP_000420.1  S-adenosylmethionine synthase isoform type-1

    See identical proteins and their annotated locations for NP_000420.1

    Status: REVIEWED

    Source sequence(s)
    BC018359, BM738684, BX496326, X69078
    Consensus CDS
    CCDS7365.1
    UniProtKB/Swiss-Prot
    D3DWD5, Q00266, Q5QP09
    UniProtKB/TrEMBL
    A8K455
    Related
    ENSP00000361287.3, ENST00000372213.8
    Conserved Domains (1) summary
    PTZ00104
    Location:12393
    PTZ00104; S-adenosylmethionine synthase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    80271820..80289658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    81140919..81158757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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