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Gene Model: Arg

NomenclatureGenomic Location
SymbolArgChromosome2
NameArginaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 95 Mbp

Molecular Function

L-arginine + H2O = L-ornithine + urea.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   hydrolase activity
      hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds

Human Disease Association

Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:207800]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.

Predicted Transcript
     1 ATGTCGCTTCGCAGCAGCTTCGGCCGGCTCCTCAAGCAGCGGGCGGGATCCACGTTGAGG
    61 GTCCAGAAGAGACCGGCGCACTCGGTGGCCCTAATTGGAGCCCCTTTCTCCCGGGGCCAG
   121 AAAAAAAGCGGAGTAGACCATGGCCCTGCCGCCATCAGGGACGCGGGGCTGGTGGGCAAG
   181 CTCTCCCGCATGGGTTGCCAGGTATATGATCTGGGAGACTTAAATTTCACTCAAATCCCC
   241 AATGATGAGCTCTACAACAACCTAGTGAAATATCCACGCTCTGTAGGATCAGCTAGCCAA
   301 GTTCTAGCTGACACTGTGAATGGAGCCGTGGCTGCTGGTCATAGCTGTGTAACCATCGGA
   361 GGTGATCACAGTTTAGCACTTGGTTCCATCAGTGGCCACACAAGGCAGTACCCACACCTC
   421 TGTGTAATCTGGGTAGATGCACATGCGGACATCAATACTCCACTCACCACAAATTCAGGG
   481 AATCTCCATGGACAGCCAGTTTCATTTCTTTTAAGGGAGCTTCAAGATAAGGTGCCACAG
   541 CTTCCTGGCTTCTCTTGGCTAAAACCCTGTCTTTCACGATCAGATATTGTATATATTGGC
   601 TTAAGAGATGTTGATCCTGCTGAACACTATATTCTGAAGAACTATGGCATCCAGTATTTT
   661 TCAATGAGAGATATTGATCGCTTAGGGATCCAGAAAGTGATGGAGAGAACCTTTGACCAC
   721 CTTTTAAGCAGAGGACAAAGACCTATCCATCTCAGCTTCGACATTGATGCCTTTGATCCA
   781 ACATTGGCTCCATCAACTGGGACTCCTGTCTTGGGTGGCTTAACATATCGTGAAGGAATG
   841 TACATTTCAGAGGAAATACACAACACAGGCCTGCTTTCAGCAGTGGACCTTGTAGAAGTA
   901 AATCCGTTGCTCGGAACGTCCCAGGAAGACGTGGCTGCAACAGCTAACCTTGCAGTGGAA
   961 GTGATTGCCACATGCTTTGGCCAAACAAGAGAAGGGGCACACATTGTTTTTGATGGCCTC
  1021 CCCACTCCCAGTTCCCCTGATGAATCTGACAGTGAAGAGCAAGTGCGGATTTAG

Predicted Protein Product
MSLRSSFGRLLKQRAGSTLRVQKRPAHSVALIGAPFSRGQKKSGVDHGPAAIRDAGLVGK
LSRMGCQVYDLGDLNFTQIPNDELYNNLVKYPRSVGSASQVLADTVNGAVAAGHSCVTIG
GDHSLALGSISGHTRQYPHLCVIWVDAHADINTPLTTNSGNLHGQPVSFLLRELQDKVPQ
LPGFSWLKPCLSRSDIVYIGLRDVDPAEHYILKNYGIQYFSMRDIDRLGIQKVMERTFDH
LLSRGQRPIHLSFDIDAFDPTLAPSTGTPVLGGLTYREGMYISEEIHNTGLLSAVDLVEV
NPLLGTSQEDVAATANLAVEVIATCFGQTREGAHIVFDGLPTPSSPDESDSEEQVRI
Protein Alignment to Mouse
sp|O08691|ARGI2_MOUSE Arginase-2, mitochondrial OS=Mus musculus GN=Arg2 PE=1
            SV=1
      MGI:1330806 Arg2 arginase type II (Chr 12)
        Length = 354

 Score = 1309 (465.8 bits), Expect = 2.8e-134, P = 2.8e-134
 Identities = 249/342 (72%), Positives = 291/342 (85%)

Query:     1 MSLRSSFGRLLKQRAGSTLRVQKRPAHSVALIGAPFSRGQKKSGVDHGPAAIRDAGLVGK 60
             M LRSS  RLL    G    V  R  HSVA++GAPFSRGQKK GV++GPAAIR+AGL+ +
Sbjct:     1 MFLRSSASRLLH---GQIPCVLTRSVHSVAIVGAPFSRGQKKLGVEYGPAAIREAGLLKR 57

Query:    61 LSRMGCQVYDLGDLNFTQIPNDELYNNLVKYPRSVGSASQVLADTVNGAVAAGHSCVTIG 120
             LSR+GC + D GDL+FT +P D+ YNNLV YPRSVG A+Q LA+ V+ AV+ G+SCVT+G
Sbjct:    58 LSRLGCHLKDFGDLSFTNVPQDDPYNNLVVYPRSVGLANQELAEVVSRAVSGGYSCVTMG 117

Query:   121 GDHSLALGSISGHTRQYPHLCVIWVDAHADINTPLTTNSGNLHGQPVSFLLRELQDKVPQ 180
             GDHSLA+G+I GH R  P LCVIWVDAHADINTPLTT SGN+HGQP+SFL++ELQDKVPQ
Sbjct:   118 GDHSLAIGTIIGHARHRPDLCVIWVDAHADINTPLTTVSGNIHGQPLSFLIKELQDKVPQ 177

Query:   181 LPGFSWLKPCLSRSDIVYIGLRDVDPAEHYILKNYGIQYFSMRDIDRLGIQKVMERTFDH 240
             LPGFSW+KPCLS  +IVYIGLRDV+P EH+ILKNY IQYFSMR+IDRLGIQKVME+TFD 
Sbjct:   178 LPGFSWIKPCLSPPNIVYIGLRDVEPPEHFILKNYDIQYFSMREIDRLGIQKVMEQTFDR 237

Query:   241 LLSRGQRPIHLSFDIDAFDPTLAPSTGTPVLGGLTYREGMYISEEIHNTGLLSAVDLVEV 300
             L+ + QRPIHLSFDIDAFDP LAP+TGTPV+GGLTYREG+YI+EEIHNTGLLSA+DLVEV
Sbjct:   238 LIGKRQRPIHLSFDIDAFDPKLAPATGTPVVGGLTYREGVYITEEIHNTGLLSALDLVEV 297

Query:   301 NPLLGTSQEDVAATANLAVEVIATCFGQTREGAHIVFDGLPT 342
             NP L TS+E+  ATA LAV+VIA+ FGQTREG HIV+D LPT
Sbjct:   298 NPHLATSEEEAKATARLAVDVIASSFGQTREGGHIVYDHLPT 339