• Gene id: 435

Gene Summary

• Gene Symbol: ASL   Gene   UCSC   Ensembl
• Aliases: ASAL
• Gene name: argininosuccinate lyase
• Alternate names: argininosuccinate lyase, argininosuccinase, arginosuccinase,
• Gene location: 7q11.21 (66075818: 66093575)     Exons: 16     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 605539

SNPs

rs139884

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.37973969A>G
NC_000022.10   g.38369976A>G
NG_007948.1   g.15564T>C
NM_006941.4   c.927T>C
NM_006941.3   c.927T>C|SEQ=[A/G]|GENE=POLR2F
SOX10   6663

Protein Summary

• Protein general information: P04424  
  • Name: Argininosuccinate lyase (ASAL) (EC 4.3.2.1) (Arginosuccinase)
  • Length: 464  
  • Mass: 51658
• Sequence:

  MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWA
  QGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAE
  RDVLFPGYTHLQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAI
  TLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKA
  GRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAY
  YLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDW
  QIRQVRALLQAQQA

• Structural information:
  • Interpro: IPR029419  IPR009049  IPR024083  IPR020557  IPR000362   IPR022761  IPR008948  
  • Prosite: PS00163
  • CDD: cd01359
  • PDB: 1AOS 1K62
  • PDBsum: 1AOS 1K62
  • STRING: ENSP00000307188
• Other Databases: GeneCards:  ASL  Malacards:  ASL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0042450	arginine biosynthetic process via ornithine	IBA	biological process
GO:0004056	argininosuccinate lyase activity	IBA	molecular function
GO:0004056	argininosuccinate lyase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0042450	arginine biosynthetic process via ornithine	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0000050	urea cycle	IEA	biological process
GO:0004056	argininosuccinate lyase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0004056	argininosuccinate lyase activity	IEA	molecular function
GO:0000050	urea cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0000050	urea cycle	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Primary hyperammonemic disorders	KEGG:H01398
Argininosuccinic aciduria	KEGG:H01028
Primary hyperammonemic disorders	KEGG:H01398
Argininosuccinic aciduria	KEGG:H01028
Argininosuccinic aciduria	PMID:3440446
Amino acid metabolic disorder	PMID:2263616
type 2 diabetes mellitus	PMID:16121806
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq