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ASL (argininosuccinate lyase)

Gene

435

Argininosuccinate lyase

ASL

ASAL

7q11.21

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Show/Hide all(67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940286	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940287	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940585	C>T	Pathogenic	Missense variant, coding sequence variant
rs28941472	A>G	Pathogenic	Missense variant, coding sequence variant
rs28941473	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs142637046	G>A	Pathogenic	Splice donor variant
rs143508372	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs145138923	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201523601	G>T	Likely-pathogenic	Splice donor variant
rs201962738	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs202142867	T>A,C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs367543005	C>T	Pathogenic	Coding sequence variant, stop gained
rs367543006	C>T	Pathogenic	Coding sequence variant, stop gained
rs369879957	C>T	Pathogenic	Coding sequence variant, stop gained
rs373697663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs374304304	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs398123126	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs398123127	G>A	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs561367199	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs751590073	G>A	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs752100894	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs752783461	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756363516	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs757109353	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs759396688	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs761651320	C>T	Pathogenic	Coding sequence variant, stop gained
rs763407938	TTAC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs764356037	G>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs767543051	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs768461888	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770375565	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777235530	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778254333	G>A	Pathogenic	Splice acceptor variant
rs781331391	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs796051932	->TGGCACTGACCCGAGACTCTGAGCG	Pathogenic	Coding sequence variant, stop gained, intron variant, inframe insertion
rs796051933	GTCATCTCTACGC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs869312976	T>A,G	Pathogenic	Splice donor variant
rs869312985	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs869312986	A>C	Pathogenic	Coding sequence variant, missense variant
rs869312987	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs869312988	T>C	Pathogenic	Coding sequence variant, missense variant
rs869312989	->AGCGGA	Pathogenic	Coding sequence variant, intron variant, inframe insertion
rs869312990	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs869312991	C>A	Pathogenic	Coding sequence variant, missense variant
rs869312992	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312993	->C	Pathogenic	Coding sequence variant, frameshift variant
rs869312994	C>T	Pathogenic	Coding sequence variant, stop gained
rs932494060	T>C,G	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1057141162	T>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307952	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1268519003	T>C	Likely-pathogenic	Splice donor variant
rs1301059768	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1329070853	GTCATCTCTACGCTGCAGGCAAGAC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1554326239	G>C	Likely-pathogenic	Splice acceptor variant
rs1554326263	CGGCACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554326267	GGATGTTCAAGGCAGCAAAGCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554326365	CGC>GGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327181	GTGGACCGAGAGCTGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327573	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554327825	G>T	Likely-pathogenic	Splice donor variant
rs1554328206	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328363	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328381	AGGTACGGCCCATC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554328479	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562742141	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584028936	G>C	Likely-pathogenic	Splice acceptor variant
rs1584032751	G>-	Pathogenic	Splice acceptor variant, coding sequence variant

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	TAS
GO:0004056	Function	Argininosuccinate lyase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 31515488, 32296183
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0042450	Process	Arginine biosynthetic process via ornithine	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	21988832, 25416956, 25502805, 31515488, 32296183
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
608310	746	ENSG00000126522

Protein

UniProt ID

P04424

Protein name

Argininosuccinate lyase (ASAL) (EC 4.3.2.1) (Arginosuccinase)

PDB

1AOS , 1K62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00206	Lyase_1	11 → 305	Lyase	Domain
PF14698	ASL_C2	368 → 435	Argininosuccinate lyase C-terminal	Domain

Sequence

MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEM
DQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTD
LRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVAL
TRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKA
GRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENM
GQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLF
SGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA

Sequence length

464

Interactions

View interactions

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