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FLASH GENE
Symbol ARG1 contributors: shn/npt - updated : 10-05-2009
HGNC name arginase, liver
HGNC id 663
Corresponding disease
ARG1 hyperargininemia
Location 6q23.2      Physical location : 131.894.364 - 131.905.468
Synonym name
  • arginase 1
  • type I arginase
  • Synonym symbol(s) A-I
    EC.number 3.5.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 11.10 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map by a combination of somatic cell hybrid analysis and in situ hybridization the human liver arginase gene was mapped to 6q23 cen - D6S262 - D6S457 - ARG1- D6S1656 - D6S472 - qter
    Authors Sparkes (1986)
    Physical map
    SAMD3 6q23.1 sterile alpha motif domain containing 3 KIAA1913 6q23.1 KIAA1913 EPB41L2 6q23 erythrocyte membrane protein band 4.1-like 2 AKAP7 6q22-q23 a kinase (PRKA) anchor protein 7 ARG1 6q22.3-q23.1 arginase, liver CRSP3 6q22.33-q24.1 cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa ENPP3 6q22 ectonucleotide pyrophosphatase/phosphodiesterase 3 OR2A4 6q33-q35 olfactory receptor, family 2, subfamily A, member 4 ENPP1 6q22-q23 ectonucleotide pyrophosphatase/phosphodiesterase 1 CTGF 6q23.1 connective tissue growth factor MOXD1 6q22-q23 monooxygenase, DBH-like 1 STX7 6q22.3-q24 syntaxin 7 TAR3 6q23.1 trace amine receptor 3 GPR102 6q23.2 G protein-coupled receptor 102 TA4 6q23.1 trace amine receptor 4 PNR 6q23 putative neurotransmitter receptor GPR57 6q23-q24 G protein-coupled receptor 57 GPR58 6q23-q24 G protein-coupled receptor 58 TAR1 6q23.1 trace amine receptor 1 VNN1 6q23-q24 vanin 1 VNN3 6q23-q24 vanin 3 VNN2 6q23-q24 vanin 2 C6orf192 6q22.3-q23.3 chromosome 6 open reading frame 192 RPS12 6q23.1 ribosomal protein S12
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1471 34.7 330 red blood cell, liver, kidney, brain and the gastrointestinal tract Spector et al, 1983
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   specific
    Lymphoid/Immunespleen   moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Two arginine control elements (ARC1 and ARC2)
  • Two Gcn4p binding sites
  • mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to Arg1, Rattus norvegicus
    ortholog to Arg1, Mus musculus
    Homologene
    FAMILY
  • arginase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
  • arginine and proline metabolism
  • urea cycle and metabolism of amino groups
  • metabolism of amino acids
  • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Mn2+
  • protein
  • arginase II (ARG2)
  • nitric oxide synthase 1 (NOS1)
  • the co-activator complex SWI/SNF
  • cell & other
    REGULATION
    activated by Gcn4p
    induced by arginine
    homoarginine
    repressed by Mcm1p
    ASSOCIATED DISORDERS
    corresponding disease(s) ARG1
    Susceptibility to myocardial infarction and common carotid intima media thickness.
    Variant & Polymorphism other Polymorphisms increasing the risk of myocardial infarction and common carotid intima media thickness.
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockout mice exhibited severe hyperammonemia and died between postnatal days 10 and 14
  • livers of Arg1-deficient animals showed hepatocyte abnormalities, including cell swelling and inclusion. The mean arginine level in plasma showed of Arg1-knockout mice was 4-fold and 3-fold greater than in wildtype and heterozygous mice, respectively and proline and ornithine levels were reduced
  • Arg1-KO mice duplicate several pathobiologic aspects of human argininemia
  • Arg1/Arg2 double-knockout mice exhibited the phenotype of the Arg1 knockout mice, with the additional absence of Arg2 not exacerbating the phenotype. Arginine levels increased roughly 100-fold and ornithine decreased roughly 10-fold compared with wildtype
  • alpha-keto-delta-guanidinovaleric acid, alpha-N-acetylarginine and argininic acid are increased in brain tissue from Arg1 KO and Arg1/Arg2 double-KO mice