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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2805
Gene name	Glutamic-oxaloacetic transaminase 1
Gene symbol	GOT1
Synonyms (NCBI Gene)	ASTAST1ASTQTL1GIG18SGOTcAspATcCAT
Chromosome	10
Chromosome location	10q24.2
Summary	Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two en

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SNP ID	Visualize variation	Clinical significance	Consequence
rs749913156	TTG>-	Pathogenic	Coding sequence variant, inframe deletion

144

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039193	hsa-miR-769-5p	CLASH	23622248
MIRT645850	hsa-miR-8485	HITS-CLIP	23824327
MIRT645849	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT645848	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT645847	hsa-miR-3591-5p	HITS-CLIP	23824327
MIRT497417	hsa-miR-1324	PAR-CLIP	22291592
MIRT497416	hsa-miR-205-5p	PAR-CLIP	22291592
MIRT497415	hsa-miR-549a	PAR-CLIP	22291592
MIRT497414	hsa-miR-4448	PAR-CLIP	22291592
MIRT497413	hsa-miR-7641	PAR-CLIP	22291592
MIRT727537	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727538	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727536	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727535	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT645850	hsa-miR-8485	HITS-CLIP	23824327
MIRT645849	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT645848	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT645847	hsa-miR-3591-5p	HITS-CLIP	23824327
MIRT497417	hsa-miR-1324	PAR-CLIP	22291592
MIRT497416	hsa-miR-205-5p	PAR-CLIP	22291592
MIRT497415	hsa-miR-549a	PAR-CLIP	22291592
MIRT497414	hsa-miR-4448	PAR-CLIP	22291592
MIRT497413	hsa-miR-7641	PAR-CLIP	22291592
MIRT1027801	hsa-miR-1207-5p	CLIP-seq
MIRT1027802	hsa-miR-1272	CLIP-seq
MIRT1027803	hsa-miR-1273f	CLIP-seq
MIRT1027804	hsa-miR-1276	CLIP-seq
MIRT1027805	hsa-miR-143	CLIP-seq
MIRT1027806	hsa-miR-155	CLIP-seq
MIRT1027807	hsa-miR-181a	CLIP-seq
MIRT1027808	hsa-miR-181b	CLIP-seq
MIRT1027809	hsa-miR-181c	CLIP-seq
MIRT1027810	hsa-miR-181d	CLIP-seq
MIRT1027811	hsa-miR-200b	CLIP-seq
MIRT1027812	hsa-miR-200c	CLIP-seq
MIRT1027813	hsa-miR-2113	CLIP-seq
MIRT1027814	hsa-miR-2278	CLIP-seq
MIRT1027815	hsa-miR-24	CLIP-seq
MIRT1027816	hsa-miR-298	CLIP-seq
MIRT1027817	hsa-miR-3074-3p	CLIP-seq
MIRT1027818	hsa-miR-3117-3p	CLIP-seq
MIRT1027819	hsa-miR-3169	CLIP-seq
MIRT1027820	hsa-miR-326	CLIP-seq
MIRT1027821	hsa-miR-330-5p	CLIP-seq
MIRT1027822	hsa-miR-3613-3p	CLIP-seq
MIRT1027823	hsa-miR-361-5p	CLIP-seq
MIRT1027824	hsa-miR-365	CLIP-seq
MIRT1027825	hsa-miR-371b-5p	CLIP-seq
MIRT1027826	hsa-miR-377	CLIP-seq
MIRT1027827	hsa-miR-3940-5p	CLIP-seq
MIRT1027828	hsa-miR-3944-5p	CLIP-seq
MIRT1027829	hsa-miR-4262	CLIP-seq
MIRT1027830	hsa-miR-4270	CLIP-seq
MIRT1027831	hsa-miR-4284	CLIP-seq
MIRT1027832	hsa-miR-4441	CLIP-seq
MIRT1027833	hsa-miR-4464	CLIP-seq
MIRT1027834	hsa-miR-4507	CLIP-seq
MIRT1027835	hsa-miR-4514	CLIP-seq
MIRT1027836	hsa-miR-452	CLIP-seq
MIRT1027837	hsa-miR-4692	CLIP-seq
MIRT1027838	hsa-miR-4708-5p	CLIP-seq
MIRT1027839	hsa-miR-4748	CLIP-seq
MIRT1027840	hsa-miR-4759	CLIP-seq
MIRT1027841	hsa-miR-4763-3p	CLIP-seq
MIRT1027842	hsa-miR-4770	CLIP-seq
MIRT1027843	hsa-miR-4786-5p	CLIP-seq
MIRT1027844	hsa-miR-499-3p	CLIP-seq
MIRT1027845	hsa-miR-499a-3p	CLIP-seq
MIRT1027846	hsa-miR-521	CLIP-seq
MIRT1027847	hsa-miR-548e	CLIP-seq
MIRT1027848	hsa-miR-548f	CLIP-seq
MIRT1027849	hsa-miR-940	CLIP-seq
MIRT1027804	hsa-miR-1276	CLIP-seq
MIRT2004875	hsa-miR-1910	CLIP-seq
MIRT2004876	hsa-miR-2276	CLIP-seq
MIRT1027814	hsa-miR-2278	CLIP-seq
MIRT1027816	hsa-miR-298	CLIP-seq
MIRT1027830	hsa-miR-4270	CLIP-seq
MIRT1027832	hsa-miR-4441	CLIP-seq
MIRT2004877	hsa-miR-455-3p	CLIP-seq
MIRT2004878	hsa-miR-4666-5p	CLIP-seq
MIRT1027843	hsa-miR-4786-5p	CLIP-seq
MIRT2004879	hsa-miR-593	CLIP-seq
MIRT1027801	hsa-miR-1207-5p	CLIP-seq
MIRT2237606	hsa-miR-1226	CLIP-seq
MIRT2237607	hsa-miR-1236	CLIP-seq
MIRT1027804	hsa-miR-1276	CLIP-seq
MIRT1027811	hsa-miR-200b	CLIP-seq
MIRT1027812	hsa-miR-200c	CLIP-seq
MIRT1027813	hsa-miR-2113	CLIP-seq
MIRT2237608	hsa-miR-2117	CLIP-seq
MIRT1027814	hsa-miR-2278	CLIP-seq
MIRT2237609	hsa-miR-299-3p	CLIP-seq
MIRT2237610	hsa-miR-3151	CLIP-seq
MIRT2237611	hsa-miR-3591-3p	CLIP-seq
MIRT2237612	hsa-miR-3607-5p	CLIP-seq
MIRT1027823	hsa-miR-361-5p	CLIP-seq
MIRT2237613	hsa-miR-3620	CLIP-seq
MIRT2237614	hsa-miR-376c	CLIP-seq
MIRT1027828	hsa-miR-3944-5p	CLIP-seq
MIRT1027830	hsa-miR-4270	CLIP-seq
MIRT2237615	hsa-miR-4273	CLIP-seq
MIRT1027832	hsa-miR-4441	CLIP-seq
MIRT2237616	hsa-miR-4447	CLIP-seq
MIRT1027833	hsa-miR-4464	CLIP-seq
MIRT2237617	hsa-miR-4472	CLIP-seq
MIRT1027835	hsa-miR-4514	CLIP-seq
MIRT1027836	hsa-miR-452	CLIP-seq
MIRT2237618	hsa-miR-4643	CLIP-seq
MIRT2004878	hsa-miR-4666-5p	CLIP-seq
MIRT1027837	hsa-miR-4692	CLIP-seq
MIRT2237619	hsa-miR-4733-3p	CLIP-seq
MIRT1027839	hsa-miR-4748	CLIP-seq
MIRT2237620	hsa-miR-4753-3p	CLIP-seq
MIRT1027841	hsa-miR-4763-3p	CLIP-seq
MIRT1027843	hsa-miR-4786-5p	CLIP-seq
MIRT2237621	hsa-miR-4797-5p	CLIP-seq
MIRT2237622	hsa-miR-485-5p	CLIP-seq
MIRT2237623	hsa-miR-491-5p	CLIP-seq
MIRT1027844	hsa-miR-499-3p	CLIP-seq
MIRT1027845	hsa-miR-499a-3p	CLIP-seq
MIRT1027846	hsa-miR-521	CLIP-seq
MIRT1027847	hsa-miR-548e	CLIP-seq
MIRT1027848	hsa-miR-548f	CLIP-seq
MIRT2237624	hsa-miR-935	CLIP-seq
MIRT1027849	hsa-miR-940	CLIP-seq
MIRT1027807	hsa-miR-181a	CLIP-seq
MIRT1027808	hsa-miR-181b	CLIP-seq
MIRT1027809	hsa-miR-181c	CLIP-seq
MIRT1027810	hsa-miR-181d	CLIP-seq
MIRT2541588	hsa-miR-205	CLIP-seq
MIRT2541589	hsa-miR-3126-5p	CLIP-seq
MIRT2541590	hsa-miR-3174	CLIP-seq
MIRT2541591	hsa-miR-3606	CLIP-seq
MIRT1027826	hsa-miR-377	CLIP-seq
MIRT2541592	hsa-miR-3973	CLIP-seq
MIRT1027829	hsa-miR-4262	CLIP-seq
MIRT2541593	hsa-miR-433	CLIP-seq
MIRT2541594	hsa-miR-520g	CLIP-seq
MIRT2541595	hsa-miR-520h	CLIP-seq
MIRT2541596	hsa-miR-548k	CLIP-seq
MIRT2541597	hsa-miR-549	CLIP-seq
MIRT2541598	hsa-miR-654-3p	CLIP-seq
MIRT2541599	hsa-miR-921	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	IBA
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	IDA	2182221, 2241899, 2731362, 6391741
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	IEA
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	ISS
GO:0004609	Function	Phosphatidylserine decarboxylase activity	IEA
GO:0005515	Function	Protein binding	IPI	20029029, 31980649, 35512704
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	7060339
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006114	Process	Glycerol biosynthetic process	IEA
GO:0006114	Process	Glycerol biosynthetic process	IEA
GO:0006114	Process	Glycerol biosynthetic process	ISS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0006531	Process	Aspartate metabolic process	ISS
GO:0006532	Process	Aspartate biosynthetic process	IBA
GO:0006532	Process	Aspartate biosynthetic process	IEA
GO:0006533	Process	L-aspartate catabolic process	IDA	2241899
GO:0006533	Process	L-aspartate catabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	ISS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009743	Process	Response to carbohydrate	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019550	Process	L-glutamate catabolic process to aspartate	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0031406	Function	Carboxylic acid binding	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEP	8396422
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0043490	Process	Malate-aspartate shuttle	IEA
GO:0043490	Process	Malate-aspartate shuttle	IMP	37647199
GO:0043648	Process	Dicarboxylic acid metabolic process	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0047801	Function	L-cysteine transaminase activity	IEA
GO:0047801	Function	L-cysteine transaminase activity	ISS
GO:0051384	Process	Response to glucocorticoid	IEP	8396422
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0051902	Process	Negative regulation of mitochondrial depolarization	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA
GO:0060290	Process	Transdifferentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0097054	Process	L-glutamate biosynthetic process	IEA
GO:1990267	Process	Response to transition metal nanoparticle	IEA

MIM	HGNC	e!Ensembl
138180	4432	ENSG00000120053

P17174

Protein name

Aspartate aminotransferase, cytoplasmic (cAspAT) (EC 2.6.1.1) (EC 2.6.1.3) (Cysteine aminotransferase, cytoplasmic) (Cysteine transaminase, cytoplasmic) (cCAT) (Glutamate oxaloacetate transaminase 1) (Transaminase A)

Protein function

Biosynthesis of L-glutamate from L-aspartate or L-cysteine (PubMed:21900944). Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain n

PDB

3II0 , 3WZF , 6DNA , 6DNB , 6DND , 6LIG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	31 → 405	Aminotransferase class I and II	Domain

Sequence

MAPPSVFAEVPQAQPVLVFKLTADFREDPDPRKVNLGVGAYRTDDCHPWVLPVVKKVEQK
IANDNSLNHEYLPILGLAEFRSCASRLALGDDSPALKEKRVGGVQSLGGTGALRIGADFL
ARWYNGTNNKNTPVYVSSPTWENHNAVFSAAGFKDIRSYRYWDAEKRGLDLQGFLNDLEN
APEFSIVVLHACAHNPTGIDPTPEQWKQIASVMKHRFLFPFFDSAYQGFASGNLERDAWA
IRYFVSEGFEFFCAQSFSKNFGLYNERVGNLTVVGKEPESILQVLSQMEKIVRITWSNPP
AQGARIVASTLSNPELFEEWTGNVKTMADRILTMRSELRARLEALKTPGTWNHITDQIGM
FSFTGLNPKQVEYLVNEKHIYLLPSGRINVSGLTTKNLDYVATSIHEAVTKIQ

Sequence length

413

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	Pathogenic	rs749913156	RCV000022576

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GOT1-related disorder	Likely benign; Benign	rs781754659, rs146049867, rs2234971	RCV003931819 RCV003946952 RCV003982123

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	40033432
Carcinoma Pancreatic Ductal	Associate	23535601, 25595905
Cardiomyopathy Dilated	Associate	27711126
Glioblastoma	Inhibit	28245795
Glioma	Associate	32484805
Gyrate Atrophy	Associate	28716744
Hydrocephalus Normal Pressure	Associate	40033432
Lymphoma Non Hodgkin	Associate	32484805
Muscular Diseases	Associate	28025995
Myelodysplastic Syndromes	Associate	18310541
Neoplasms	Associate	12697057, 25595905, 26965582, 29751795
Neuroendocrine Tumors	Associate	29444910
Osteoarthritis	Associate	37960823
Pancreatic Neoplasms	Associate	30365304, 33832516
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	21049047
Prostatic Neoplasms	Associate	32111915
Pulmonary Disease Chronic Obstructive	Associate	28025995
Uterine Cervical Neoplasms	Associate	33228592

GOT1 (glutamic-oxaloacetic transaminase 1)