Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4143
Gene name Gene Name - the full gene name approved by the HGNC.	Methionine adenosyltransferase 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAT1A
Synonyms (NCBI Gene) Gene synonyms aliases	MAT, MATA1, SAMS, SAMS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SAMS
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 gro

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72558181	C>T	Pathogenic	Missense variant, coding sequence variant
rs118204001	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204002	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs118204003	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs118204004	A>G	Pathogenic	Missense variant, coding sequence variant
rs118204005	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204006	C>T	Pathogenic	Missense variant, coding sequence variant
rs138556525	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs376757912	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs376993881	G>A	Pathogenic	Coding sequence variant, missense variant
rs913435613	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517759	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1131691739	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1203137107	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1554841212	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018853	hsa-miR-335-5p	Microarray	18185580
MIRT437450	hsa-miR-664a-3p	Luciferase reporter assay	23241961
MIRT437451	hsa-miR-485-3p	Luciferase reporter assay	23241961
MIRT437452	hsa-miR-495-3p	Luciferase reporter assay	23241961
MIRT722268	hsa-miR-3156-5p	HITS-CLIP	19536157
MIRT722267	hsa-miR-888-3p	HITS-CLIP	19536157
MIRT722266	hsa-miR-7161-3p	HITS-CLIP	19536157
MIRT722265	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT722264	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722263	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722262	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT488209	hsa-miR-1321	PAR-CLIP	23592263
MIRT488208	hsa-miR-4739	PAR-CLIP	23592263
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT488204	hsa-miR-4487	PAR-CLIP	23592263
MIRT488202	hsa-miR-4419a	PAR-CLIP	23592263
MIRT488201	hsa-miR-4510	PAR-CLIP	23592263
MIRT488200	hsa-miR-6127	PAR-CLIP	23592263
MIRT488199	hsa-miR-6129	PAR-CLIP	23592263
MIRT488198	hsa-miR-6130	PAR-CLIP	23592263
MIRT488197	hsa-miR-6133	PAR-CLIP	23592263
MIRT488196	hsa-miR-6131	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488192	hsa-miR-4300	PAR-CLIP	23592263
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT488190	hsa-miR-920	PAR-CLIP	23592263
MIRT488189	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488184	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488180	hsa-miR-5698	PAR-CLIP	23592263
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT488209	hsa-miR-1321	PAR-CLIP	26701625
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT488189	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT488192	hsa-miR-4300	PAR-CLIP	26701625
MIRT488202	hsa-miR-4419a	PAR-CLIP	26701625
MIRT488204	hsa-miR-4487	PAR-CLIP	26701625
MIRT488201	hsa-miR-4510	PAR-CLIP	26701625
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	26701625
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT488208	hsa-miR-4739	PAR-CLIP	26701625
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	26701625
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	26701625
MIRT488180	hsa-miR-5698	PAR-CLIP	26701625
MIRT488200	hsa-miR-6127	PAR-CLIP	26701625
MIRT488199	hsa-miR-6129	PAR-CLIP	26701625
MIRT488198	hsa-miR-6130	PAR-CLIP	26701625
MIRT488196	hsa-miR-6131	PAR-CLIP	26701625
MIRT488197	hsa-miR-6133	PAR-CLIP	26701625
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	26701625
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	26701625
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	26701625
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	26701625
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT488190	hsa-miR-920	PAR-CLIP	26701625
MIRT488184	hsa-miR-939-5p	PAR-CLIP	26701625
MIRT722268	hsa-miR-3156-5p	HITS-CLIP	19536157
MIRT722267	hsa-miR-888-3p	HITS-CLIP	19536157
MIRT722266	hsa-miR-7161-3p	HITS-CLIP	19536157
MIRT722265	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT722264	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722263	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722262	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT488209	hsa-miR-1321	PAR-CLIP	23592263
MIRT488208	hsa-miR-4739	PAR-CLIP	23592263
MIRT488207	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488206	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488205	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488203	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT488204	hsa-miR-4487	PAR-CLIP	23592263
MIRT488202	hsa-miR-4419a	PAR-CLIP	23592263
MIRT488201	hsa-miR-4510	PAR-CLIP	23592263
MIRT488200	hsa-miR-6127	PAR-CLIP	23592263
MIRT488199	hsa-miR-6129	PAR-CLIP	23592263
MIRT488198	hsa-miR-6130	PAR-CLIP	23592263
MIRT488197	hsa-miR-6133	PAR-CLIP	23592263
MIRT488196	hsa-miR-6131	PAR-CLIP	23592263
MIRT488195	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488194	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488192	hsa-miR-4300	PAR-CLIP	23592263
MIRT488193	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT488191	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT488190	hsa-miR-920	PAR-CLIP	23592263
MIRT488189	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488188	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488187	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488186	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488185	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488184	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488183	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488182	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488180	hsa-miR-5698	PAR-CLIP	23592263
MIRT488181	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488179	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488178	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT1133366	hsa-miR-1207-3p	CLIP-seq
MIRT1133367	hsa-miR-1275	CLIP-seq
MIRT1133368	hsa-miR-1343	CLIP-seq
MIRT1133369	hsa-miR-193a-3p	CLIP-seq
MIRT1133370	hsa-miR-193b	CLIP-seq
MIRT1133371	hsa-miR-2110	CLIP-seq
MIRT1133372	hsa-miR-214	CLIP-seq
MIRT1133373	hsa-miR-29a	CLIP-seq
MIRT1133374	hsa-miR-29b	CLIP-seq
MIRT1133375	hsa-miR-29c	CLIP-seq
MIRT1133376	hsa-miR-3065-3p	CLIP-seq
MIRT1133377	hsa-miR-3147	CLIP-seq
MIRT1133378	hsa-miR-3150a-3p	CLIP-seq
MIRT1133379	hsa-miR-3163	CLIP-seq
MIRT1133380	hsa-miR-3175	CLIP-seq
MIRT1133381	hsa-miR-3192	CLIP-seq
MIRT1133382	hsa-miR-338-3p	CLIP-seq
MIRT1133383	hsa-miR-3619-5p	CLIP-seq
MIRT1133384	hsa-miR-3622b-5p	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT1133386	hsa-miR-4271	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT1133388	hsa-miR-4291	CLIP-seq
MIRT1133389	hsa-miR-4425	CLIP-seq
MIRT1133390	hsa-miR-4525	CLIP-seq
MIRT1133391	hsa-miR-4530	CLIP-seq
MIRT1133392	hsa-miR-4665-5p	CLIP-seq
MIRT1133393	hsa-miR-4667-5p	CLIP-seq
MIRT1133394	hsa-miR-4700-5p	CLIP-seq
MIRT1133395	hsa-miR-4720-5p	CLIP-seq
MIRT1133396	hsa-miR-4725-3p	CLIP-seq
MIRT1133397	hsa-miR-4731-5p	CLIP-seq
MIRT1133398	hsa-miR-4733-3p	CLIP-seq
MIRT1133399	hsa-miR-4747-5p	CLIP-seq
MIRT1133400	hsa-miR-4755-3p	CLIP-seq
MIRT1133401	hsa-miR-4777-3p	CLIP-seq
MIRT1133402	hsa-miR-4799-3p	CLIP-seq
MIRT1133403	hsa-miR-491-5p	CLIP-seq
MIRT1133404	hsa-miR-548m	CLIP-seq
MIRT1133405	hsa-miR-625	CLIP-seq
MIRT1133406	hsa-miR-671-5p	CLIP-seq
MIRT1133407	hsa-miR-761	CLIP-seq
MIRT1133408	hsa-miR-766	CLIP-seq
MIRT1133409	hsa-miR-892b	CLIP-seq
MIRT1133410	hsa-miR-922	CLIP-seq
MIRT1133411	hsa-miR-939	CLIP-seq
MIRT1551173	hsa-miR-665	CLIP-seq
MIRT2037994	hsa-miR-1205	CLIP-seq
MIRT2037995	hsa-miR-1909	CLIP-seq
MIRT2037996	hsa-miR-300	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT2037998	hsa-miR-381	CLIP-seq
MIRT2037999	hsa-miR-4475	CLIP-seq
MIRT2038000	hsa-miR-4643	CLIP-seq
MIRT2038001	hsa-miR-596	CLIP-seq
MIRT2038002	hsa-miR-624	CLIP-seq
MIRT1551173	hsa-miR-665	CLIP-seq
MIRT2038003	hsa-miR-767-3p	CLIP-seq
MIRT1133366	hsa-miR-1207-3p	CLIP-seq
MIRT2267975	hsa-miR-1272	CLIP-seq
MIRT1133369	hsa-miR-193a-3p	CLIP-seq
MIRT1133370	hsa-miR-193b	CLIP-seq
MIRT1133373	hsa-miR-29a	CLIP-seq
MIRT1133374	hsa-miR-29b	CLIP-seq
MIRT1133375	hsa-miR-29c	CLIP-seq
MIRT1133376	hsa-miR-3065-3p	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT1133382	hsa-miR-338-3p	CLIP-seq
MIRT1133384	hsa-miR-3622b-5p	CLIP-seq
MIRT2267976	hsa-miR-3682-3p	CLIP-seq
MIRT2267977	hsa-miR-3714	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT2267978	hsa-miR-4438	CLIP-seq
MIRT2267979	hsa-miR-4529-5p	CLIP-seq
MIRT1133391	hsa-miR-4530	CLIP-seq
MIRT2267980	hsa-miR-4685-5p	CLIP-seq
MIRT1133395	hsa-miR-4720-5p	CLIP-seq
MIRT1133398	hsa-miR-4733-3p	CLIP-seq
MIRT2267981	hsa-miR-4786-5p	CLIP-seq
MIRT1133402	hsa-miR-4799-3p	CLIP-seq
MIRT2267982	hsa-miR-548an	CLIP-seq
MIRT1133406	hsa-miR-671-5p	CLIP-seq
MIRT1133408	hsa-miR-766	CLIP-seq
MIRT2267983	hsa-miR-769-5p	CLIP-seq
MIRT1133409	hsa-miR-892b	CLIP-seq
MIRT2390643	hsa-miR-3125	CLIP-seq
MIRT2037997	hsa-miR-3187-3p	CLIP-seq
MIRT2390644	hsa-miR-3916	CLIP-seq
MIRT2390645	hsa-miR-3928	CLIP-seq
MIRT2390646	hsa-miR-4435	CLIP-seq
MIRT2390647	hsa-miR-4701-5p	CLIP-seq
MIRT2390648	hsa-miR-548s	CLIP-seq
MIRT2390649	hsa-miR-588	CLIP-seq
MIRT2390650	hsa-miR-877	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT2453771	hsa-miR-616	CLIP-seq
MIRT1133387	hsa-miR-4289	CLIP-seq
MIRT2453771	hsa-miR-616	CLIP-seq
MIRT2684664	hsa-miR-331-3p	CLIP-seq
MIRT1133385	hsa-miR-4267	CLIP-seq
MIRT2267981	hsa-miR-4786-5p	CLIP-seq
MIRT2267983	hsa-miR-769-5p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000096	Process	Sulfur amino acid metabolic process	TAS
GO:0001887	Process	Selenium compound metabolic process	TAS
GO:0004478	Function	Methionine adenosyltransferase activity	IBA	21873635
GO:0004478	Function	Methionine adenosyltransferase activity	IDA	10677294
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IBA	21873635
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IEA
GO:0006556	Process	S-adenosylmethionine biosynthetic process	IMP	10677294
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0009087	Process	Methionine catabolic process	IMP	10677294
GO:0032259	Process	Methylation	TAS
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	23425511

MIM	HGNC	e!Ensembl
610550	6903	ENSG00000151224

Protein

UniProt ID

Q00266

Protein name

S-adenosylmethionine synthase isoform type-1 (AdoMet synthase 1) (EC 2.5.1.6) (Methionine adenosyltransferase 1) (MAT 1) (Methionine adenosyltransferase I/III) (MAT-I/III)

Protein function

Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the t

PDB

2OBV , 6SW5 , 6SW6 , 8SWA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00438	S-AdoMet_synt_N	17 → 115	S-adenosylmethionine synthetase, N-terminal domain	Domain
PF02772	S-AdoMet_synt_M	129 → 250	S-adenosylmethionine synthetase, central domain	Domain
PF02773	S-AdoMet_synt_C	252 → 389	S-adenosylmethionine synthetase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:8393662}.

Sequence

MNGPVDGLCDHSLSEGVFMFTSESVGEGHPDKICDQISDAVLDAHLKQDPNAKVACETVC
KTGMVLLCGEITSMAMVDYQRVVRDTIKHIGYDDSAKGFDFKTCNVLVALEQQSPDIAQC
VHLDRNEEDVGAGDQGLMFGYATDETEECMPLTIILAHKLNARMADLRRSGLLPWLRPDS
KTQVTVQYMQDNGAVIPVRIHTIVISVQHNEDITLEEMRRALKEQVIRAVVPAKYLDEDT
VYHLQPSGRFVIGGPQGDAGVTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARW
VAKSLVKAGLCRRVLVQVSYAIGVAEPLSISIFTYGTSQKTERELLDVVHKNFDLRPGVI
VRDLDLKKPIYQKTACYGHFGRSEFPWEVPRKLVF

Sequence length

395

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways Biosynthesis of amino acids Biosynthesis of cofactors		Methylation Sulfur amino acid metabolism Metabolism of ingested SeMet, Sec, MeSec into H2Se Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	23665415
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	8770875
Glycine n-methyltransferase deficiency	Hypermethioninemia due to deficiency of glycine N-methyltransferase	rs121907888, rs864321678
Hepatic methionine adenosyltransferase deficiency	Hepatic methionine adenosyltransferase deficiency	rs118204001, rs118204003, rs118204004, rs72558181, rs118204005, rs138556525, rs913435613, rs376993881, rs1241692940, rs1554840677, rs116659053, rs373792557	15935930, 24445979, 16435220, 10677294, 20675163, 11320206, 23425511, 22951388, 11278456, 23973726, 26289392, 8770875, 7560086, 28748147, 25638462 View all (11 more)

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Beckwith Wiedemann Syndrome	Associate	21282187
Breast Neoplasms	Associate	37628631
Carcinoma Hepatocellular	Associate	14530285, 18045590, 20146079, 21678410, 22270009, 24098708, 30776190, 31959915, 35008908, 37240447
Carcinoma Hepatocellular	Inhibit	24377546
Cardiovascular Diseases	Associate	20335551
Cognition Disorders	Associate	10677294
Colonic Neoplasms	Associate	35712285, 37543674
Colorectal Neoplasms	Associate	26108676, 30610787, 30776190, 32453965
Demyelinating Diseases	Associate	10677294
Gray Platelet Syndrome	Associate	10677294
Hypermethioninemia	Associate	10677294, 20675163, 30776190, 32496220, 35885946, 39511588, 9042912
Hypermethioninemia	Inhibit	7560086, 8770875
Hypertension	Associate	20335551
Liver Diseases	Associate	22270009
Neoplasms	Associate	14530285, 37543674, 37628631
Neurologic Manifestations	Associate	10677294, 8770875
Non alcoholic Fatty Liver Disease	Associate	36260611
Pancreatic Neoplasms	Associate	23334854, 31706267
Restless Legs Syndrome	Associate	18226951
Sarcoma Kaposi	Associate	40016701
Stroke	Associate	20335551

MAT1A (methionine adenosyltransferase 1A)