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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	158
Gene name Gene Name - the full gene name approved by the HGNC.	Adenylosuccinate lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADSL
Synonyms (NCBI Gene) Gene synonyms aliases	AMPS, ASASE, ASL
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carbox

Show/Hide all(42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941471	G>A	Uncertain-significance, likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs34396910	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs119450940	T>C	Pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs119450941	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs119450942	C>G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs119450944	A>G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs119450945	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs143083947	C>A,G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs143275316	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs143977255	A>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs148411623	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs181628906	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic upstream transcript variant
rs199993991	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, genic upstream transcript variant
rs200814886	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs201509960	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202064195	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs372895468	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs373458753	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs374259530	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs750614500	C>T	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs751928831	G>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs756210458	C>G,T	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs761493155	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs761551284	G>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs763542069	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs771121666	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs776496275	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777821034	T>C	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs796052244	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs796052246	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs796052247	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs796052248	C>T	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs879257322	C>A,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1036185928	C>T	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057521071	C>G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057521795	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1555903969	G>T	Pathogenic, uncertain-significance	Genic upstream transcript variant, intron variant, splice donor variant
rs1555908924	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1569096551	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1601552154	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1601586359	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1601596522	CAT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052539	hsa-let-7a-5p	CLASH	23622248
MIRT038883	hsa-miR-93-3p	CLASH	23622248

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IBA	21873635
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	16973378
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IC	10888601
GO:0006167	Process	AMP biosynthetic process	IDA	11428554
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	TAS
GO:0032991	Component	Protein-containing complex	IDA	16973378
GO:0042802	Function	Identical protein binding	IDA	16973378
GO:0044208	Process	'de novo' AMP biosynthetic process	IBA	21873635
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	IBA	21873635

MIM	HGNC	e!Ensembl
608222	291	ENSG00000239900

Protein

UniProt ID

P30566

Protein name

Adenylosuccinate lyase (ADSL) (ASL) (EC 4.3.2.2) (Adenylosuccinase) (ASase)

Protein function

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also cont

PDB

2J91 , 2VD6 , 4FFX , 4FLC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00206	Lyase_1	24 → 313	Lyase	Domain
PF10397	ADSL_C	378 → 460	Adenylosuccinate lyase C-terminus	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.

Sequence

MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDE
QIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTD
LIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLC
MDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG
QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMR
SERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISE
GLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD
NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKA
ELCL

Sequence length

484

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Cholelithiasis	Cholelithiasis			GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenylosuccinate lyase deficiency	Inhibit	12016589, 19405474
Adenylosuccinate lyase deficiency	Associate	12016589, 12876319, 15471876, 18830228, 22812634, 28487569, 33648541
Adenylosuccinate lyase deficiency	Stimulate	36271826
Autism Spectrum Disorder	Associate	15471876
Autistic Disorder	Associate	10673438, 12016589, 15471876
Breast Neoplasms	Stimulate	29467457
Carcinogenesis	Associate	31729379, 33754045
Carcinoma Endometrioid	Associate	29467457
Colorectal Neoplasms	Associate	33754045
Developmental Disabilities	Associate	15471876
Endometrial Neoplasms	Associate	29467457
Epilepsy	Associate	12016589
Glioma	Associate	29467457
Intellectual Disability	Associate	10673438, 12016589, 19405474
Lesch Nyhan Syndrome	Associate	38172668
Melanoma	Associate	37976135
Mitochondrial Diseases	Associate	33754045
Neoplasms	Stimulate	29467457
Neoplasms	Associate	33754045, 37976135
Psychomotor Disorders	Associate	9545543
Triple Negative Breast Neoplasms	Associate	31729379

ADSL (adenylosuccinate lyase)