MAT1A - methionine adenosyltransferase 1A Gene

Also Known as MAT; SAMS; MATA1; SAMS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4143

About MAT1A

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:80,271,820-80,289,658 (from NCBI)

This gene has 4 transcripts (splice variants), 251 orthologues, 1 paralogue and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 313.0).

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]

MAT1A Products (1)

mRNA Protein Name
NM_000429.3 NP_000420.1 S-adenosylmethionine synthase isoform type-1
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables methionine adenosyltransferase activity IDA
IDA: Inferred from direct assay
10677294 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References Source
involved in S-adenosylmethionine biosynthetic process IDA
IDA: Inferred from direct assay
25075345 GOA
involved in S-adenosylmethionine biosynthetic process IMP
IMP: Inferred from mutant phenotype
10677294 GOA
involved in methionine catabolic process IMP
IMP: Inferred from mutant phenotype
10677294 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
23425511 GOA
Cellular Component GO Annotation Evidence References Source
part of methionine adenosyltransferase complex IPI
IPI: Inferred from physical interaction
25075345 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAT1A Protein Structure

S-AdoMet_synt_N

S-AdoMet_synt_N: S-adenosylmethionine synthetase, N-terminal domain (18 - 115)

S-AdoMet_synt_M

S-AdoMet_synt_M: S-adenosylmethionine synthetase, central domain (129 - 250)

S-AdoMet_synt_C

S-AdoMet_synt_C: S-adenosylmethionine synthetase, C-terminal domain (252 - 388)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

S-adenosylmethionine synthase isoform type-1

  • MAT 1

MAT1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MAT1A Q00266 MAT2A Homo sapiens P31153 33961781
Intra
MAT1A Q00266 MAT2A Homo sapiens P31153 32296183
Intra
MAT1A Q00266 MAT2A Homo sapiens P31153 28514442
Intra
MAT1A Q00266 MAT2A Homo sapiens P31153 32296183
Intra
MAT1A Q00266 MAT1A Homo sapiens Q00266 32296183
Intra
MAT1A Q00266 MAT2B Homo sapiens Q9NZL9-2 28514442
Intra
MAT1A Q00266 MAT1A Homo sapiens Q00266 32296183
Intra
MAT1A Q00266 ASPSCR1 Homo sapiens Q9BZE9-2 28514442
Intra
MAT1A Q00266 MAT2B Homo sapiens Q9NZL9 33961781
Intra
MAT1A Q00266 ASPSCR1 Homo sapiens Q9BZE9 33961781
Intra
MAT1A Q00266 MAT1A Homo sapiens Q00266 32296183
Intra
MAT1A Q00266 MAT1A Homo sapiens Q00266 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

MAT1A Antibodies

Cat. No. Product Name Application Reactivity
HY-P83454 MAT1A Antibody (YA3199) WB, IP Human, Mouse, Rat
HY-P83454A MAT1A Antibody (YA3199)(PBS only) WB, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Methionine Adenosyltransferase I/Iii Deficiency
  • Mat I/Iii Deficiency

  • Mat Deficiency

  • Methionine Adenosyltransferase Deficiency, Autosomal Recessive

  • Hypermethioninemia, Persistent, Autosomal Dominant, Due To Methionine Adenosyltransferase I/Iii Deficiency

  • Methionine Adenosyltransferase Deficiency

  • Hypermethioninemia, Isolated Persistent

  • Brain Demyelination Due To Methionine Adenosyltransferase Deficiency

  • MATD

  • Isolated Persistent Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Deficiency Of Acetyl-Coa Acetyltransferase

Hypermethioninemia
  • Hepatic Methionine Adenosyltransferase Deficiency

  • Deficiency Of Methionine Adenosyltransferase

  • Glycine N-Methyltransferase Deficiency

  • Met

  • S-Adenosylhomocysteine Hydrolase Deficiency

  • Gnmt Deficiency

  • Mat Deficiency

  • Methionine Adenosyltransferase Deficiency

  • Methioninemia

  • Deficiency Of Acetyl-Coa Acetyltransferase

Methionine Adenosyltransferase Deficiency
  • Mat Deficiency

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Deficiency Of Acetyl-Coa Acetyltransferase

Glycine N-Methyltransferase Deficiency
  • GNMT DEFICIENCY

  • Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

  • Hypermethioninemia Due To Gnmt Deficiency

  • Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency

Alpha-Methylacetoacetic Aciduria
  • Beta-Ketothiolase Deficiency

  • 3-Ketothiolase Deficiency

  • 3-Oxothiolase Deficiency

  • Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

  • Alpha-Methylacetoaceticaciduria

  • Mat Deficiency

  • T2 Deficiency

  • 2-Methyl-3-Hydroxybutyricacidemia

  • Beta Ketothiolase Deficiency

  • Pseudo-Zellweger Syndrome

  • 2-Methyl-3-Hydroxybutyric Acidemia

  • 3-Ktd Deficiency

  • Peroxisomal Thiolase Deficiency

  • 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • 3-Alpha-Oxothiolase Deficiency

  • Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

  • Β-Ketothiolase Deficiency

  • Alpha Methylacetoacetic Aciduria

  • Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

  • Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

  • 3KTD

  • Aciduria, Alpha-Methylacetoacetic

  • Deficiency Of Acetyl-Coa Acetyltransferase

  • Deficiency Of Acetyl-Coa Acyltransferase

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Bifunctional Peroxisomal Enzyme Deficiency

Homocystinuria
  • Cystathionine Beta Synthase Deficiency

  • Homocysteinemia

  • Cbs Deficiency

  • Cystathionine Synthase Deficiency

  • Cystathionine Beta-Synthase Deficiency Disease

Liver Cirrhosis
  • Cirrhosis

  • Cirrhosis Of Liver

  • CIRRH

  • Cryptogenic Cirrhosis

  • Cirrhosis, Cryptogenic

  • Cirrhosis Nos

Intestinal Disaccharidase Deficiency
  • Disaccharidase Deficiency

Clear Cell Acanthoma
  • Acanthoma

  • Pale Acanthoma

  • Acanthoma, Clear Cell

Mend Syndrome
  • Male Ebp Disorder With Neurological Defects

  • MEND

  • Male Ebp Disorder With Neurologic Defects

Tyrosinemia, Type I
  • Tyrosinemia Type I

  • Hepatorenal Tyrosinemia

  • Fumarylacetoacetase Deficiency

  • Fah Deficiency

  • TYRSN1

  • Fumarylacetoacetate Hydrolase Deficiency

  • Tyrosinemia Type 1

  • Tyrosinemia 1

  • Fumarylacetoacetase

Histidinemia
  • Histidine Ammonia-Lyase Deficiency

  • Hal Deficiency

  • Histidase Deficiency

  • His Deficiency

  • Histidinuria

  • Hyperhistidinemia

  • HISTID

  • Histidinuria Renal Tubular Defect

Histidine Metabolism Disease
  • Disturbances Of Histidine Metabolism

  • Disorder Of Histidine Metabolism

  • Disturbance Of Histidine Metabolism

Hyperprolinemia, Type I
  • Proline Oxidase Deficiency

  • Hyperprolinemia Type 1

  • HYRPRO1

  • Hpi

  • Hyperprolinemia Type I

  • Hyperprolinemia 1

  • Proline Dehydrogenase Deficiency

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Alkaptonuria
  • Homogentisic Acid Oxidase Deficiency

  • Alcaptonuria

  • AKU

  • Deficiency Of Homogentisicase

  • Homogentisate 1,2-Dioxygenase Deficiency

  • Alkaptonuric Ochronosis

  • Homogentisic Acidura

  • Ochronosis, Hereditary

  • Hereditary Ochronosis

  • Ochronosis

  • Homogentisicaciduria

  • Deficiency Of Homogentisate Oxygenase

Amino Acid Metabolic Disorder
  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MAT1A VGNC VGNC:31261
Macaca mulatta MAT1A VGNC VGNC:74663
Canis familiaris MAT1A VGNC VGNC:43037
Felis catus MAT1A VGNC VGNC:68192
Rattus norvegicus MAT1A RGD RGD:3050
Mus musculus MAT1A MGD MGI:88017
Others MAT1A NCBI