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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	158
Gene name	Adenylosuccinate lyase
Gene symbol	ADSL
Synonyms (NCBI Gene)	AMPSASASEASL
Chromosome	22
Chromosome location	22q13.1
Summary	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

Show/Hide all (2)

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

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IBA
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	10888601
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA	10888601, 16973378, 19405474
GO:0004018	Function	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IC	10888601
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	IDA	11428554
GO:0006167	Process	AMP biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0009152	Process	Purine ribonucleotide biosynthetic process	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	16973378
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IDA	16973378
GO:0042802	Function	Identical protein binding	IEA
GO:0044208	Process	'de novo' AMP biosynthetic process	IBA
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0044209	Process	AMP salvage	IEA
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IBA
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IDA	27590927
GO:0070626	Function	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	IEA
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA

MIM	HGNC	e!Ensembl
608222	291	ENSG00000239900

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

	KEGG		Reactome
	Purine metabolism Alanine, aspartate and glutamate metabolism Metabolic pathways Nucleotide metabolism Biosynthesis of cofactors		Purine ribonucleoside monophosphate biosynthesis

827

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenylosuccinate lyase deficiency	Likely pathogenic; Pathogenic	rs1035500320, rs1268082439, rs746501563, rs2044777708, rs1569099793, rs2146667709, rs2146634231, rs747964752, rs1275901345, rs2146622848, rs370851726, rs1410270058, rs2146658733, rs1268264761, rs1193437955 View all (45 more)	RCV001366584 RCV001383241 RCV001382689 RCV001384334 RCV001387368 RCV001382329 RCV001785896 RCV001950883 RCV002017498 RCV001923611 RCV001971171 RCV002037760 RCV001942110 RCV002030152 RCV001956156 RCV001918325 RCV002010963 RCV003603114 RCV000002565 RCV000002566 RCV000002567 RCV000002568 RCV000002569 RCV000002570 RCV000002572 RCV003064660 RCV003072072 RCV002675827 RCV002726026 RCV000193076 RCV001049471 RCV000763484 RCV000278336 RCV001209833 RCV000779373 RCV001971049 RCV001036968 RCV001781543 RCV000990447 RCV002847106 RCV003007416 RCV003236504 RCV000293106 RCV003499624 RCV003498364 RCV003603277 RCV003604977 RCV000679862 RCV000465601 RCV000707388 RCV002536581 RCV000810236 RCV000990446 RCV000990448 RCV000995690 RCV001050339 RCV001039703 RCV001220597 RCV001203918 RCV001202658 RCV002221270 RCV001300027
ADSL-related disorder	Likely pathogenic; Pathogenic	rs119450944, rs374259530, rs750614500, rs774435749	RCV003398421 RCV004755797 RCV003390914 RCV004756193
Difficulty standing	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081
Generalized myoclonic seizure	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081
Inability to walk	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081
Progressive neurologic deterioration	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081
Severe global developmental delay	Pathogenic; Likely pathogenic	rs374259530, rs756210458	RCV000415212 RCV000415081

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs11913275	RCV005904230
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	rs181628906, rs11913275	RCV005890564 RCV005904232
Intellectual disability	Likely benign	rs770755205	RCV001251876
Lung cancer	Uncertain significance; Likely benign	rs1311483271, rs11913275	RCV005912544 RCV005904236
Ovarian serous cystadenocarcinoma	Likely benign	rs11913275	RCV005904233
Sarcoma	Likely benign	rs11913275	RCV005904231
Thymoma	Likely benign	rs11913275	RCV005904235
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs759704594	RCV005909070
Uterine carcinosarcoma	Likely benign	rs11913275	RCV005904234
Uterine corpus endometrial carcinoma	Likely benign	rs11913275	RCV005904237

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)