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FLASH GENE

Symbol

ASS1

contributors: mct - updated : 11-09-2014

HGNC name	argininosuccinate synthetase 1
HGNC id	758

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CTLN1 citrullinemia, type I
Location	9q34.11      Physical location : 133.320.093 - 133.376.660
Synonym name	argininosuccinate synthetase
	citrulline--aspartate ligase
Synonym symbol(s)	ASS, ASSY, ASS, CTLN1
EC.number	6.3.4.5

DNA

TYPE	functioning gene
STRUCTURE	56.57 kb     15 Exon(s)

regulatory sequence	Promoter
	Binding site   cAMP
text structure	10 kb upstream of the transcription start site, a cAMP response element (CRE) highly conserved among mammals ( liver-specific enhancement of gene expression is mediated in part by the cAMP signaling pathway through a distal CRE site) (Guei 2008)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D9S109 - D9S59 - D9S170 - D9S154 - D9S315 - ASS1 - D9S149 - D9S66 - D9S67 - qter
Authors	Brown (95)
Text	see ABL1

RNA

TRANSCRIPTS	type	messenger

text	Two transcript variants encoding the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000050 15 - 1863 NP_000041 - 412 - Bock NM_054012 15 splicing 1801 NP_446464 - 412 - Bock

EXPRESSION

Type

widely

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 Digestive liver

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

arginosuccinate synthase motif

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Ass1

Homologene

FAMILY	argininosuccinate synthase family
	type 1 subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	rate-limiting enzyme in the urea cycle
	metabolizing the ATP dependent binding of citrulline to aspartate
	participates in metabolic processes including arginine biosynthesis and citrulline–NO cycle (Guei 2008)
	expression of ASS1 harmonized with that of NOS3 may be important for the optimized endothelial NO production and the prevention of the inflammatory monocyte adhesion to endothelial cells
	plays a role in maintaining anti-inflammatory microenvironments through enhancing NO production

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

sensory transduction/olfaction

arginine biosynthetic pathways

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	regulates the provision of l-arginine to nitric oxide synthase 3 (NOS3)
	key regulatory role of KLF4 in the endothelial ASS1 expression and NO production in response to laminar shear stress

cell & other

REGULATION

activated by

laminar shear stress increases the expression of ASS1 that regulates the provision of L-arginine, the substrate of NOS3

induced by

endothelial ASS1 expression was induced by laminar shear stress (LSS)

ASSOCIATED DISORDERS

corresponding disease(s)

CTLN1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   either low in abundance or absent in breast cancer biosamples constitutional     --low   mRNA level of ASS1 in PKU patients was lower than that of normal people, which was well correlated with its methylation status tumoral     --low   in myxofibrosarcomas, with loss of expression linked to promoter methylation, and clinical aggressiveness

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast breast cancer could be candidate for arginine starvation therapy

ANIMAL & CELL MODELS