1. Gene
  2. MAT1A - methionine adenosyltransferase 1A Gene

MAT1A - methionine adenosyltransferase 1A Gene

Homo sapiens

Also known as MAT; SAMS; MATA1; SAMS1

Gene ID: 4143 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
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

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