ADSL adenylosuccinate lyase [Homo sapiens] - Gene

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Summary

Official Symbol: ADSLprovided by HGNC
Official Full Name: adenylosuccinate lyaseprovided by HGNC
Primary source: HGNC:291
Locus tag: RP5-1042K10.8
See related: Ensembl:ENSG00000239900; HPRD:00049; MIM:608222; Vega:OTTHUMG00000166425
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASL; AMPS; ASASE
Summary: Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 22q13.2

Sequence :: Chromosome: 22; NC_000022.10 (40742504..40762577)

See ADSL in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

D-ribose administration in Polish patients with adenylosuccinate lyase deficiency was accompanied by neither reduction in seizure frequency nor growth enhancement.
Title: D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency
Title: Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Title: Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Analysis of the ADSL gene showed a R426H mutation in four unrelated patients with metabolic diseases.
Title: Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
a mutation in adenylosuccinate lyase may be associated with autism
Title: Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.
Variable expression of ADSL deficiency is reported in three patients belonging to a family which originates from Portugal.
Title: Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
Title: Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
case report of adenylosuccinate lyase deficiency shows a mutation in ASDL
Title: Adenylosuccinate lyase deficiency--first British case.
cloning, expression and purification of catalytically active human adenylosuccinate lyase
Title: Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase.

Submit: New GeneRIF Correction See all (12)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.

Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:106667	BioGRID:122485	DDA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106667	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106667	BioGRID:115283	USP15	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106667	BioGRID:113221	USP4	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	IEA Inferred from Electronic Annotation more info
N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA Inferred from Direct Assay more info	PubMed
NOT N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	IDA Inferred from Direct Assay more info	PubMed
N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	TAS Traceable Author Statement more info
lyase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
AMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
aerobic respiration	IEA Inferred from Electronic Annotation more info
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
protein tetramerization	IDA Inferred from Direct Assay more info	PubMed
purine base metabolic process	TAS Traceable Author Statement more info
purine nucleotide biosynthetic process	IC Inferred by Curator more info	PubMed
purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to nutrient	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
mitochondrion	IEA Inferred from Electronic Annotation more info
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: adenylosuccinate lyase

Names: adenylosuccinate lyase; adenylosuccinase

NP_000017.1

EC 4.3.2.2

NP_001116850.1

EC 4.3.2.2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007993.1 RefSeqGene

Range

5001..25074

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000026.2 → NP_000017.1 adenylosuccinate lyase isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AF067853, BP298407

Consensus CDS

CCDS14001.1

UniProtKB/Swiss-Prot

P30566

Related

ENSP00000216194, OTTHUMP00000199172, ENST00000216194, OTTHUMT00000321386

Conserved Domains (2) summary

TIGR00928
Location:17 – 460
Blast Score: 1056

purB; adenylosuccinate lyase

cd03302
Location:17 – 452
Blast Score: 2208

Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2
NM_001123378.1 → NP_001116850.1 adenylosuccinate lyase isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AF067854, BP298407

Consensus CDS

CCDS46714.1

UniProtKB/Swiss-Prot

P30566

Related

ENSP00000341429, OTTHUMP00000199173, ENST00000342312, OTTHUMT00000321387

Conserved Domains (1) summary

cd03302
Location:17 – 397
Blast Score: 1951

Adenylsuccinate_lyase_2; Adenylsuccinate lyase (ASL)_subgroup 2

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

40742504..40762577

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

23705707..23725685

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF106656.1	AAC83935.1
genomic	AL022238.1	CAI18983.1
		CAQ08929.1
		CAQ08930.1
genomic	CH471095.1	EAW60375.1
		EAW60376.1
		EAW60377.1
mRNA	AF067853.1	AAC21560.1
mRNA	AF067854.1	AAC21561.1
mRNA	AK225042.1	None
mRNA	AK291091.1	BAF83780.1
mRNA	AK298187.1	BAG60458.1
mRNA	AK300705.1	BAG62384.1
mRNA	AK308662.1	None
mRNA	BC000253.1	AAH00253.1
mRNA	BC018881.2	None
mRNA	BP298407.1	None
mRNA	CR456368.1	CAG30254.1
mRNA	S60710.1	AAC60603.1
mRNA	X65867.1	CAA46696.1
		CAA46697.1
other-genetic	CU012935.1	CAK54366.1
other-genetic	CU013223.1	CAK54665.1
other-genetic	DQ893326.2	ABM84252.1
other-genetic	DQ896642.2	ABM87641.1