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Gene Model: Asl

NomenclatureGenomic Location
SymbolAslChromosome2
NameArgininosuccinate lyaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 15 Mbp

Molecular Function

2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.

Molecular Function Terms:

catalytic activity
   lyase activity
      carbon-nitrogen lyase activity
         amidine-lyase activity

Human Disease Association

Defects in ASL are the cause of arginosuccinicaciduria (ARGINSA) [MIM:207900]. Arginosuccinicaciduria is an autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

Predicted Transcript

     1 CTCTCTCAGGGAGATAAACTCTGGGGGGGAAGATTCAGCGGAAGCACAGATCCCATCATG
    61 GAGATGCTCAACTCTTCCATTGCCTGTGATCAGAGACTGTCTGAAGTTGATATCCAGGGG
   121 AGCATGGCTTATGCCAAAGCATTGGAGAAGGCTGGCATCCTAACTAAAACTGAGCTGGAG
   181 AAGATCCTGAGTGGCCTGGAAAAGATCTCTGAGGAATGGTCTAAGGGAGTCTTTGTGGTG
   241 AAACAAAGTGATGAGGATATTCACACTGCCAATGAACGCAGACTGAAGGAGCTGATTGGT
   301 GATATAGCTGGAAAGCTGCACACTGGAAGGAGCAGGAATGATCAGGTTGTGACTGACCTG
   361 AAGCTGCTCCTGAAGAGTTCGATCTCTGTCATTTCCACTCACCTGCTGCAGCTCATTAAG
   421 ACCCTTGTGGAGCGCGCTGCTACAGAAATTGATGTTATCATGCCTGGCTACACCCACCTG
   481 CAGAAAGCTCTGCCCATCAGATGGAGCCAGTTCCTGCTCAGCCATGCTGTTGCACTGATC
   541 CGTGATTCCGAGCGCCTGGGTGAGGTGAAGAAAAGGATGAGCGTCCTGCCTCTGGGAAGT
   601 GGTGCTCTGGCTGGCAACCCACTGGAAATTGATAGAGAACTTCTTCGTAGCGAACTGGAC
   661 TTTGCTTCCATCAGCCTGAACAGCATGGATGCCATCAGTGAGAGAGACTTTGTGGTGGAA
   721 TTACTCTCTGTTGCCACCCTGCTGATGATCCACCTGAGCAAGCTGGCTGAAGATCTCATA
   781 ATCTTCAGCACCACTGAATTTGGCTTTGTGACCCTCTCTGATGCCTATAGCACTGGCAGC
   841 AGCCTGTTGCCTCAGAAGAAGAACCCTGATAGCCTGGAACTGATCCGCAGCAAAGCTGGT
   901 CGTGTGTTTGGACGGTTGGCTGCTGTTCTCATGGTTCTGAAAGGACTTCCAAGCACCTAC
   961 AACAAGGATCTGCAGGAGGACAAGGAAGCTGTCTTTGATGTTGTGGACACTCTGACTGCT
  1021 GTGCTCCAGGTTGCCACGGGAGTGATTTCTACCCTCCAGGTCAACAAGGAGAACATGGAG
  1081 AAGGCTCTGACCCCTGAGTTGCTGTCTACTGATCTGGCTCTCTACTTGGTTCGTAAAGGA
  1141 ATGCCATTCAGACAAGCTCATGTTGCTTCTGGGAAGGCCGTCCACCTTGCTGAGACTAAA
  1201 GGCATTGCTATCAATAAACTCACTCTGGAGGACCTGAAGAGCATCAGCCCCCTGTTTGCC
  1261 AGCGATGTCTCCCAGGTTTTCAACATTGTCAACAGCGTGGAGCAGTACACTGCCGTGGGC
  1321 GGTACTGCCAAGAGCAGCGTGACTGCCCAGATCGAGCAGCTGAGGGAGCTGCTGAAGAAG
  1381 CAGAAGGAGCAGGCTTAG..........................................

Predicted Protein Product
LSQGDKLWGGRFSGSTDPIMEMLNSSIACDQRLSEVDIQGSMAYAKALEKAGILTKTELE
KILSGLEKISEEWSKGVFVVKQSDEDIHTANERRLKELIGDIAGKLHTGRSRNDQVVTDL
KLLLKSSISVISTHLLQLIKTLVERAATEIDVIMPGYTHLQKALPIRWSQFLLSHAVALI
RDSERLGEVKKRMSVLPLGSGALAGNPLEIDRELLRSELDFASISLNSMDAISERDFVVE
LLSVATLLMIHLSKLAEDLIIFSTTEFGFVTLSDAYSTGSSLLPQKKNPDSLELIRSKAG
RVFGRLAAVLMVLKGLPSTYNKDLQEDKEAVFDVVDTLTAVLQVATGVISTLQVNKENME
KALTPELLSTDLALYLVRKGMPFRQAHVASGKAVHLAETKGIAINKLTLEDLKSISPLFA
SDVSQVFNIVNSVEQYTAVGGTAKSSVTAQIEQLRELLKKQKEQA
Protein Alignment to Mouse
sp|Q91YI0|ARLY_MOUSE Argininosuccinate lyase OS=Mus musculus GN=Asl PE=2 SV=1
      MGI:88084 Asl argininosuccinate lyase (Chr 5)
        Length = 464

 Score = 1607 (570.8 bits), Expect = 7.5e-166, P = 7.5e-166
 Identities = 316/461 (68%), Positives = 385/461 (83%)

Query:     2 SQGDKLWGGRFSGSTDPIMEMLNSSIACDQRLSEVDIQGSMAYAKALEKAGILTKTELEK 61
             S+  KLWGGRF G+ DPIME  NSSI+ D+ L  VD+QGS AY++ LEKAG+LTK E+++
Sbjct:     3 SESGKLWGGRFVGAVDPIMEKFNSSISYDRHLWNVDVQGSKAYSRGLEKAGLLTKAEMQQ 62

Query:    62 ILSGLEKISEEWSKGVFVVKQSDEDIHTANERRLKELIGDIAGKLHTGRSRNDQVVTDXX 121
             IL GL+K++EEW++G F +  +DEDIHTANERRLKELIG+ AGKLHTGRSRNDQVVTD  
Sbjct:    63 ILQGLDKVAEEWAQGTFKLHPNDEDIHTANERRLKELIGEAAGKLHTGRSRNDQVVTDLR 122

Query:   122 XXXXXXXXXXXTHLLQLIKTLVERAATEIDVIMPGYTHLQKALPIRWSQFLLSHAVALIR 181
                          L  LI T+V+RA  E DV+ PGYTHLQ+A PIRWS ++LSHAVAL R
Sbjct:   123 LWMRQTCSKLSALLRVLIGTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVALTR 182

Query:   182 DSERLGEVKKRMSVLPLGSGALAGNPLEIDRELLRSELDFASISLNSMDAISERDFVVEL 241
             DSERL EV+KR++VLPLGSGA+AGNPL +DRELLR+EL+F +I+LNSMDA SERDFV E 
Sbjct:   183 DSERLLEVQKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEF 242

Query:   242 LSVATLLMIHLSKLAEDLIIFSTTEFGFVTLSDAYSTGSSLLPQKKNPDSLELIRSKAGR 301
             L  A+L M HLS++AEDLI++ T EF FV LSDAYSTGSSL+PQKKNPDSLELIRSKAGR
Sbjct:   243 LFWASLCMTHLSRMAEDLILYGTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGR 302

Query:   302 VFGRLAAVLMVLKGLPSTYNKDLQEDKEAVFDVVDTLTAVLQVATGVISTLQVNKENMEK 361
             VFGR A +LM LKGLPSTYNKDLQEDKEAVF+V DT+ AVLQVATGVISTLQ+++ENM++
Sbjct:   303 VFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMIAVLQVATGVISTLQIHRENMKQ 362

Query:   362 ALTPELLSTDLALYLVRKGMPFRQAHVASGKAVHLAETKGIAINKLTLEDLKSISPLFAS 421
             AL+P++L+TDLA YLVRKGMPFRQAH ASGKAV +AETKG+A+N L+L++L++ISPLF+ 
Sbjct:   363 ALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNLLSLQELQTISPLFSG 422

Query:   422 DVSQVFNIVNSVEQYTAVGGTAKSSVTAQIEQLRELLKKQK 462
             DVS V++  +SVEQY+A+GGTAKSSV  QI Q+R LL+ Q+
Sbjct:   423 DVSHVWDYSHSVEQYSALGGTAKSSVEWQIRQVRALLQAQE 463