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FLASH GENE

Symbol

ASL

contributors: mct/npt - updated : 22-02-2010

HGNC name	argininosuccinate lyase
HGNC id	746

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASL argininosuccinic aciduria
Location	7q11.21      Physical location : 65.540.775 - 65.558.321
Synonym name	argininosuccinase
Synonym symbol(s)	ARLY, ASAL
EC.number	4.3.2.1

DNA

TYPE	functioning gene
STRUCTURE	17.55 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Promoter (TATA box)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	Variants 1 and 2 encode the same isoform

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000048 17 - 1937 NP_000039 - 464 - Walker, Abramson (1991) differs in the 5' UTR NM_001024944 15 - 2001 NP_001020115 - 444 - Walker, Abramson (1991) lacks an alternate, in-frame exon NM_001024946 15 - 1983 NP_001020117 - 438 - Walker, Abramson (1991) lacks an alternate, in-frame exon NM_001024943 16 - 2061 NP_001020114 51 464 - Walker, Abramson (1991)

EXPRESSION

Type	ubiquitous

constitutive of

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 intestine large intestine colon   highly   salivary gland       highly Reproductive female system uterus cervix   highly   female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

lyase domain

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Asl

Homologene

FAMILY	lyase 1 family
	arginosuccinate lyase subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	urea cycle, the last step in arginine boisynthesis, involved in the disposal of ingested nitrogen
	catalyzes the cleavage of argininosuccinate to fumarate and arginine, an essential step in the process of detoxification of ammonia via the urea cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

amine

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ASL

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS