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FLASH GENE
Symbol ASL contributors: mct/npt - updated : 22-02-2010
HGNC name argininosuccinate lyase
HGNC id 746
Corresponding disease
ASL argininosuccinic aciduria
Location 7q11.21      Physical location : 65.540.775 - 65.558.321
Synonym name argininosuccinase
Synonym symbol(s) ARLY, ASAL
EC.number 4.3.2.1
DNA
TYPE functioning gene
STRUCTURE 17.55 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
MAPPING cloned Y linked N status confirmed
Physical map
LOC154849 7q11.21 similar to tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide; 14-3-3 epsilon; mitochondrial import stimulation factor L subunit; protein kinase C inhibitor protein-1 LOC392052 7 similar to hypothetical protein FLJ90430 FLJ90430 7q11.21 hypothetical protein FLJ90430 LOC392053 7 similar to Opioid binding protein/cell adhesion molecule precursor (OBCAM) (Opioid-binding cell adhesion molecule) (OPCML) ZFD25 7q11.2 similar to Opioid binding protein/cell adhesion molecule precursor (OBCAM) (Opioid-binding cell adhesion molecule) (OPCML) LOC253883 7q11.21 similar to myelin protein zero-like 1; protein zero related ZNF138 7q11.21-q11.23 zinc finger protein 138 (clone pHZ-32) LOC168474 7q11.21 selenophosphate synthetase pseudogene MGC12518 7q11.21 similar to ZINC FINGER PROTEIN 257 (BONE MARROW ZINC FINGER 4) (BMZF-4) LOC389505 7 LOC389505 ZNF117 7q11.2 zinc finger protein 117 (HPF9) H-plk 7q11.21 Krueppel-related zinc finger protein FLJ25037 7q11.21 hypothetical protein FLJ25037 LOC389506 7 LOC389506 ZNF92 19p13.1-p12 zinc finger protein 92 (HTF12) LOC392054 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC389507 7 similar to hypothetical protein FLJ25037 LOC392055 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC392056 7 similar to metabotropic glutamate receptor 8; G protein-coupled receptor, family C, group 1, member H LOC389508 7 similar to hypothetical protein MGC16733 similar to CG12113 LOC389509 7 similar to RIKEN cDNA 2610034N24 LOC389510 7 LOC389510 DKFZp434F142 7q11.21 hypothetical protein DKFZp434F142 LOC154807 GUSB 7q22.1 glucuronidase, beta LOC392057 7 similar to Gcp16 protein ASL 7cen-q11.2 argininosuccinate lyase RCP9 7q11.21 calcitonin gene-related peptide-receptor component protein TPST1 7q11.21 tyrosylprotein sulfotransferase 1 LOC285908 7q11.21 hypothetical protein LOC285908 TCEB1P 5q31.1 transcription elongation factor B (SIII), polypeptide 1 pseudogene LOC389511 7 similar to RAB guanine nucleotide exchange factor (GEF) 1 LOC346329 7q11.21 similar to Guanine nucleotide-binding protein, alpha-11 subunit (GL2) LOC389512 7 LOC389512 LOC154880 7q11.21 similar to 60S ribosomal protein L35 KCTD7 7q11.21 potassium channel tetramerisation domain containing 7 RABGEF1 7q11.21 RAB guanine nucleotide exchange factor (GEF) 1 LOC285911 7q11.22 similar to ribosomal protein L31 FLJ10099 7q11.22 hypothetical protein FLJ10099 SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome FLJ10900 7q11.22 hypothetical protein FLJ10900 LOC155081 7q11.22 hypothetical gene supported by AL137266 LOC389513 7 similar to PMS5 homolog mismatch repair protein - human FLJ13195 7p11.2-q11.2 hypothetical protein FLJ13195 similar to stromal antigen 3
RNA
TRANSCRIPTS type messenger
text Variants 1 and 2 encode the same isoform
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 1937 - 464 - Walker, Abramson (1991)
differs in the 5' UTR
15 - 2001 - 444 - Walker, Abramson (1991)
lacks an alternate, in-frame exon
15 - 1983 - 438 - Walker, Abramson (1991)
lacks an alternate, in-frame exon
16 - 2061 51 464 - Walker, Abramson (1991)
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 salivary gland   highly
Reproductivefemale systemuteruscervix highly
 female systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Nervous    
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • lyase domain
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Asl
    Homologene
    FAMILY
  • lyase 1 family
  • arginosuccinate lyase subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • urea cycle, the last step in arginine boisynthesis, involved in the disposal of ingested nitrogen
  • catalyzes the cleavage of argininosuccinate to fumarate and arginine, an essential step in the process of detoxification of ammonia via the urea cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism amine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS