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FLASH GENE

Symbol

ADSL

contributors: mct - updated : 07-04-2022

HGNC name	adenylosuccinate lyase
HGNC id	291

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADSLD adenylosuccinate lyase deficiency
Location	22q13.1      Physical location : 40.742.503 - 40.762.573
Synonym name	adenylosuccinase
Synonym symbol(s)	AMPS, PUR8, ASASE, ASL
EC.number	4.3.2.2

DNA

TYPE	functioning gene
STRUCTURE	41.03 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	NRF2 binding site

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000026 13 - 1565 NP_000017 54 484 - 2000 10888601 NM_001123378 12 - 1388 NP_001116850 - 425 lowly expressed 2000 10888601 NM_001363840 14 - 1799 NP_001350769 - 480 - 2000 10888601 NM_001317923 13 - 4304 NP_001304852 - 420 - 2000 10888601

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 Digestive liver       highly   salivary gland       highly Endocrine neuroendocrine pituitary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one lyase domain

HOMOLOGY

interspecies

murine Adsl

Homologene

FAMILY	lyase 1 family
	adenylosuccinate lyase subfamily

CATEGORY

enzyme , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	twelfth step of the de novo purine (adenylate) biosynthesis, component of a bifunctional enzyme also catalyzing the eight step of the de novo purine biosynthesis, i.e, the conversion of SAICAR to AICAR (aminoimidazole carboxamide ribonucleotide)
	involved in the purine nucleotide cycle
	role of ADSL-mediated de novo purine synthesis in fueling mitochondrial ATP production to promote liver cancer cell growth
	ADSL is an oncogene of Prostate carcinoma through regulating the cell cycle pathway firstly, with explicit cell and clinical phenotypes
	ADSL functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

a component

complex of purine biosynthesis

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADSLD

related resource

Adenylosuccinate Lyase Mutations Database Home Page

Susceptibility

to autism

Variant & Polymorphism other	polymorphisms increasing the risk of autism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS