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FLASH GENE

Symbol

GOT1

contributors: mct/npt - updated : 08-10-2019

HGNC name	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)
HGNC id	4432

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q24.2      Physical location : 101.156.627 - 101.190.530
Synonym name	aspartate aminotransferase 1
	growth-inhibiting protein 18
	transaminase A
Synonym symbol(s)	AATC, GIG18, AST1, ASTQTL1, cAspAT, cCAT
EC.number	2.6.1.1/2.6.1.3

DNA

TYPE	functioning gene
STRUCTURE	33.90 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see WNT8B

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002079 9 - 2140 NP_002070 - 413 - 2017 28716744

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       highly Endocrine thyroid       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

class-I pyridoxal-phosphate-dependent aminotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
text	efficiently packaged into COPII vesicles and cycled rapidly between the ER and Golgi compartments (Lorente-Rodríguez 2009)

basic FUNCTION	playing a role in amino acid metabolism and the urea and tricarboxylic acid cycles
	may have an unexpected role in vesicle formation from the ER by influencing membrane properties (Lorente-Rodríguez 2009)
	is essential for redox balance and growth in pancreatic ductal adenocarcinoma
	GOT1 may play a role in the maintenance of cellular redox homeostasis
	plays an important role in energy metabolism and ROS balance in chronic acidosis stress
	regulates cellular metabolism through coordinating the utilization of carbohydrates and amino acids to meet nutrient requirements
	is crucial to provide oxaloacetate at low glucose levels, likely to maintain the redox homeostasis
	GOT1, GOT2 catalyze the reversible interconversion of oxaloacetate and glutamate into aspartate and alpha-ketoglutarate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal-phosphate

protein

HIF1A acts as a direct repressor of aspartate biosynthesis involving the suppression of several key aspartate-producing proteins, including cytosolic GOT1 and mitochondrial GOT2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome (Struski 2008)

Susceptibility

to Macro-aspartate aminotransferase (macro-AST)

Variant & Polymorphism	missense variant (p.Gln208Glu, rs374966349) in GOT1 was found, as a putative causal variant predisposing to familial macro-AST

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas therapy target in pancreatic ductal adenocarcinoma (PDAC) cancer endocrine pancreas small molecule inhibitors that target GOT1 could serve as starting points for the development of new therapies for pancreatic cancer cancer     is a possible target in cancer therapy

ANIMAL & CELL MODELS