MAT1A - methionine adenosyltransferase 1A Gene

中文名称：甲硫氨酸腺苷转移酶 1A

种属: Homo sapiens

同用名: MAT; SAMS; MATA1; SAMS1

基因 ID: 4143 | 基因类型: protein coding

关于 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).

功能概要

该基因催化一个两步反应，涉及将 ATP 的腺苷部分转移到甲硫氨酸，形成 S-腺苷甲硫氨酸和三聚磷酸，随后将其裂解为 PPi 和 Pi。 S-腺苷甲硫氨酸是大多数生物甲基化的甲基来源。编码的蛋白质被发现为同源四聚体 (MAT I) 或同源二聚体 (MAT III) ，而第三种形式 MAT II (gamma) 由 MAT2A 基因编码。该基因的突变与甲硫氨酸腺苷转移酶缺乏症有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA	Protein	Name
NM_000429.3	NP_000420.1	S-adenosylmethionine synthase isoform type-1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables methionine adenosyltransferase activity	IDA IDA: 通过直接分析推断	10677294	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in S-adenosylmethionine biosynthetic process	IDA IDA: 通过直接分析推断	25075345	GOA
involved in S-adenosylmethionine biosynthetic process	IMP IMP: 通过突变表型推断	10677294	GOA
involved in methionine catabolic process	IMP IMP: 通过突变表型推断	10677294	GOA
involved in protein homotetramerization	IDA IDA: 通过直接分析推断	23425511	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of methionine adenosyltransferase complex	IPI IPI: 通过物理相互作用推断	25075345	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MAT1A 蛋白结构

S-AdoMet_synt_N

S-AdoMet_synt_M

S-AdoMet_synt_C

0
100
200
300
395 a.a.

蛋白主名

其他名称

S-adenosylmethionine synthase isoform type-1

MAT 1

MAT1A 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MAT1A	Q00266	MAT2A	Homo sapiens	P31153	Anti Tag CoIP	33961781
种属内	MAT1A	Q00266	MAT2A	Homo sapiens	P31153	Y2H Prey Pooling	32296183
种属内	MAT1A	Q00266	MAT2A	Homo sapiens	P31153	Anti Tag CoIP	28514442
种属内	MAT1A	Q00266	MAT2A	Homo sapiens	P31153	Y2H Array	32296183
种属内	MAT1A	Q00266	MAT1A	Homo sapiens	Q00266	Y2H Array	32296183
种属内	MAT1A	Q00266	MAT2B	Homo sapiens	Q9NZL9-2	Anti Tag CoIP	28514442
种属内	MAT1A	Q00266	MAT1A	Homo sapiens	Q00266	Y2H Prey Pooling	32296183
种属内	MAT1A	Q00266	ASPSCR1	Homo sapiens	Q9BZE9-2	Anti Tag CoIP	28514442
种属内	MAT1A	Q00266	MAT2B	Homo sapiens	Q9NZL9	Anti Tag CoIP	33961781
种属内	MAT1A	Q00266	ASPSCR1	Homo sapiens	Q9BZE9	Anti Tag CoIP	33961781
种属内	MAT1A	Q00266	MAT1A	Homo sapiens	Q00266	Validated Y2H	32296183
种属内	MAT1A	Q00266	MAT1A	Homo sapiens	Q00266	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

MAT1A 抗体

目录号	产品名	应用	反应物种
HY-P83454	MAT1A Antibody (YA3199)	WB, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08166	MAT1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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