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Gene Model: Ass1

NomenclatureGenomic Location
SymbolArgininosuccinate synthetase 1Chromosome2
NameAss1Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 55 Mbp

Molecular Function

ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate.

Molecular Function Terms:

binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding

catalytic activity
   ligase activity
      ligase activity, forming carbon-nitrogen bonds

Human Disease Association

Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:215700]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or adulthood.

Predicted Transcript
     1 GTCATCGCTCCATGGAGGATTCCTGAGTTTTACAACCGTTTCCGTGGCCGGAAGGACCTG
    61 ATGGAATACGCAGAGAAACACAACATTCCTGTTCCCGTCACACCAAAGGCTCCGTGGAGT
   121 ATGGACGCCAATCTGATGCACATCAGCTATGAGTCTGGCATTCTGGAGAACCCCAAGAAT
   181 CACGCACCTTCAGATCTCTACCAGATGACCAAAAACCCTGAGCATTCTCCTGATCAAGCA
   241 GATATGCTGGAGATCGAGTTCAAGAAAGGTGTTCCAGTGAGAGTGTCTCATTTAAAGGAT
   301 GGCATCAGTAAAGAGACCCCGCTGGAGATTTTCTGCTATCTGAATGAGATCGGAGGAAAG
   361 CATGGTGTGGGGAGGATCGATATCGTGGAGAACCGCTTCATCGGAATGAAGTCCCGAGGA
   421 ATCTACGAGACTCCTGGAGGAACGGTTCTCCTTCAGGCTCATCTGGACATCGAGACCTTC
   481 ACTATGGACCGAGAGGTGCGCAAGATCAAGCAGAGCCTCGGCATCAAGTTCTCTGAGCTC
   541 ATCTATAACGGCTTCTGGTTCAGCCCCGAGTGTGAGTTTGTGCGCGAGTGTGTGGAGAGA
   601 TCTCAGAAACACGTGGAGGGACGAGTCCAGCTCTCCGTCTACAAGGGACAGGTGTACATC
   661 CTGGGCCGAGAGTCTCCCAAATCACTGTACAACGAGGAGCTGGTCAGGTTTGATGTCAAA
   721 ACTGACAGCTGGAGGTGTGATGATATAGGTTTAATCAAAATTTCAGCTTTAAAGCTGAGG
   781 GAACACAACCGTCTGCAGGGAGCCGCCCTCAGCAAACACAACGTCTGA

Predicted Protein Product
VIAPWRIPEFYNRFRGRKDLMEYAEKHNIPVPVTPKAPWSMDANLMHISYESGILENPKN
HAPSDLYQMTKNPEHSPDQADMLEIEFKKGVPVRVSHLKDGISKETPLEIFCYLNEIGGK
HGVGRIDIVENRFIGMKSRGIYETPGGTVLLQAHLDIETFTMDREVRKIKQSLGIKFSEL
IYNGFWFSPECEFVRECVERSQKHVEGRVQLSVYKGQVYILGRESPKSLYNEELVRFDVK
TDSWRCDDIGLIKISALKLREHNRLQGAALSKHNV
Protein Alignment to Mouse
sp|P16460|ASSY_MOUSE Argininosuccinate synthase OS=Mus musculus GN=Ass1 PE=1
            SV=1
      MGI:88090 Ass1 argininosuccinate synthetase 1 (Chr 2)
        Length = 412

 Score = 1049 (374.3 bits), Expect = 1.0e-106, P = 1.0e-106
 Identities = 190/272 (69%), Positives = 230/272 (84%)

Query:     1 VIAPWRIPEFYNRFRGRKDLMEYAEKHNIPVPVTPKAPWSMDANLMHISYESGILENPKN 60
             VIAPWR+PEFYNRF+GR DLMEYA++H IP+PVTPK+PWSMD NLMHISYE+GILENPKN
Sbjct:   141 VIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKSPWSMDENLMHISYEAGILENPKN 200

Query:    61 HAPSDLYQMTKNPEHSPDQADMLEIEFKKGVPVRVSHLKDGISKETPLEIFCYLNEIGGK 120
              AP  LY  T++P  +P+  D+LEIEFKKGVPV+V+++KDG ++ T LE+F YLNE+ GK
Sbjct:   201 QAPPGLYTKTQDPAKAPNSPDVLEIEFKKGVPVKVTNIKDGTTRTTSLELFMYLNEVAGK 260

Query:   121 HGVGRIDIVENRFIGMKSRGIYETPGGTVLLQAHLDIETFTMDREVRKIKQSLGIKFSEL 180
             HGVGRIDIVENRFIGMKSRGIYETP GT+L  AHLDIE FTMDREVRKIKQ LG+KF+EL
Sbjct:   261 HGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL 320

Query:   181 IYNGFWFSPECEFVRECVERSQKHVEGRVQLSVYKGQVYILGRESPKSLYNEELVRFDVK 240
             +Y GFW SPECEFVR C+++SQ+ VEG+VQ+SV+KGQVYILGRESP SLYNEELV  +V+
Sbjct:   321 VYTGFWHSPECEFVRHCIQKSQERVEGKVQVSVFKGQVYILGRESPLSLYNEELVSMNVQ 380

Query:   241 TDSWRCDDIGLIKISALKLREHNRLQGAALSK 272
              D    D  G I I++L+L+E++RLQ    +K
Sbjct:   381 GDYEPIDATGFININSLRLKEYHRLQSKVTAK 412