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Gene

MAT1A

methionine adenosyltransferase 1A

Summary

Cytogenetic location
10q22.3
Coordinates
Chromosome 10: 80,271,820–80,289,658 (GRCh38)
Exons
9 exons across 17.8 kb
Protein
395 amino acids
Also known as
MAT, SAMS, MATA1, SAMS1, MAT-I/III
MANE Select transcript
ENST00000372213.8NM_000429.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Homocystinuria & Cobalamin Disorders

    • Methionine Adenosyltransferase Deficiency

      Caused by variants in MAT1A, which raise blood methionine levels; most people have no symptoms, but severe forms can affect the brain.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing explains a raised methionine result and supports monitoring in the rare severe forms.

How MAT1A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where MAT1A sits. MAT1A and 10 genes near it on chromosome 10, from 79,780,739 to 80,780,738.Chromosome 1010q22.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.379.8 Mb80 Mb80.2 Mb80.4 Mb80.6 MbNUTM2E: 79,826,739–79,850,878, forward strandNUTM2ESFTPD: 79,936,423–79,983,996, reverse strandSFTPDTMEM254: 80,078,641–80,092,862, forward strandTMEM254PLAC9: 80,131,682–80,147,044, forward strandPLAC9ANXA11: 80,150,889–80,205,713, reverse strandANXA11MAT1A: 80,271,820–80,289,658, reverse strandMAT1ADYDC1: 80,336,105–80,356,760, reverse strandDYDC1DYDC2: 80,344,730–80,369,191, forward strandDYDC2PRXL2A: 80,406,443–80,437,115, forward strandPRXL2ATSPAN14: 80,453,875–80,533,178, forward strandTSPAN14SH2D4B: 80,537,902–80,646,560, forward strandSH2D4BDiagram of MAT1A: 9 exons on the reverse strand of chromosome 10Exon 9: 1 known disease-causing siteExon 8: 6 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 9: 80,271,820–80,273,883, 2,064 basesExon 8: 80,274,520–80,274,653, 134 basesExon 7: 80,275,017–80,275,199, 183 basesExon 6: 80,276,376–80,276,594, 219 basesExon 5: 80,280,173–80,280,316, 144 basesExon 4: 80,280,680–80,280,792, 113 basesExon 3: 80,283,916–80,284,038, 123 basesExon 2: 80,285,512–80,285,589, 78 basesExon 1: 80,289,333–80,289,658, 326 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 17.8 kb; 1,188 of those bases code for the protein.

How a genome test reads MAT1A

35

positions in MAT1A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.8 kb of MAT1A, introns included, not only the 3.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MAT1A gene: methionine adenosyltransferase 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/mat1a

Vancouver

Dante Labs. MAT1A gene: methionine adenosyltransferase 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mat1a

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