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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARG1 Gene

protein-coding   GIFtS: 73
GCID: GC06P131936

Arginase 1

(Previous names: arginase, liver)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Arginase 11 2
Arginase, Liver1 2
Liver-Type Arginase2 3
Type I Arginase2 3
EC 3.5.3.13 8
arginase-12

External Ids:    HGNC: 6631   Entrez Gene: 3832   Ensembl: ENSG000001185207   OMIM: 6083135   UniProtKB: P050893   

Export aliases for ARG1 gene to outside databases

Previous GC identifers: GC06P131553 GC06P131741 GC06P131874 GC06P129475


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARG1 Gene:
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase
exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic
crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and
expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme
results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for ARG1 Gene: 
ARG1 (arginase 1) is a protein-coding gene. Diseases associated with ARG1 include hyperargininemia, and recessive dystrophic epidermolysis bullosa, and among its related super-pathways are Metabolic pathways and Urea cycle and metabolism of amino groups. GO annotations related to this gene include manganese ion binding. An important paralog of this gene is ARG2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARG1 gene promoter:
         SRF   AML1a   p53   ATF-2   SRF (504 AA)   LCR-F1   GATA-1   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q23   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q23

ARG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARG1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P131936:  view genomic region     (about GC identifiers)

Start:
131,894,284 bp from pter      End:
131,905,472 bp from pter
Size:
11,189 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARGI1_HUMAN, P05089 (See protein sequence)
Recommended Name: Arginase-1  
Size: 322 amino acids; 34735 Da
Cofactor: Binds 2 manganese ions per subunit
Subunit: Homotrimer
Subcellular location: Cytoplasm
6/36 PDB 3D structures from and Proteopedia for ARG1 (see all 36):
1WVA (3D)        1WVB (3D)        2AEB (3D)        2PHA (3D)        2PHO (3D)        2PLL (3D)    
Secondary accessions: A6NEA0 Q5JWT5 Q5JWT6 Q8TE72 Q9BS50
Alternative splicing: 3 isoforms:  P05089-1   P05089-2   P05089-3   (May be due to a competing acceptor splice site. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARG1: NX_P05089

Explore proteomics data for ARG1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05089

  • 4/10 DME Specific Peptides for ARG1 (P05089) (see all 10)
     VIWVDAH  GGDHSLA  KTGLLSG  AIGSISG 

    ARG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARG1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000036.2  NP_001231367.1  

    ENSEMBL proteins: 
     ENSP00000357066   ENSP00000349446   ENSP00000417694  
    Reactome Protein details: P05089
    Human Recombinant Protein Products for ARG1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ARG1 (Arginase 1/ARG1)
    Enzo Life Sciences proteins for ARG1
    OriGene Purified Protein for ARG1
    OriGene Protein Over-expression Lysate for ARG1
    OriGene MassSpec for ARG1 
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    Novus Biologicals ARG1 Proteins
    Novus Biologicals ARG1 Lysates
    Sino Biological Recombinant Protein for ARG1
    Sino Biological Cell Lysate for ARG1 
    ProSpec Recombinant Protein for ARG1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm TAS3540966
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--
    GO:0043025neuronal cell body IEA--

    ARG1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ARG1 

    Assay Products for ARG1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Arginase I 
    Arginase

    4 InterPro protein domains:
     IPR014033 Arginase
     IPR006035 Ureohydrolase
     IPR020855 Ureohydrolase_Mn_BS
     IPR023696 Ureohydrolase_domain

    Graphical View of Domain Structure for InterPro Entry P05089

    ProtoNet protein and cluster: P05089

    2 Blocks protein domains:
    IPB005924 Arginase signature
    IPB006035 Arginase/agmatinase/formiminoglutamase


    UniProtKB/Swiss-Prot: ARGI1_HUMAN, P05089
    Similarity: Belongs to the arginase family


    ARG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARGI1_HUMAN, P05089
    Catalytic activity: L-arginine + H(2)O = L-ornithine + urea
    Induction: By arginine or homoarginine

         Genatlas biochemistry entry for ARG1:
    arginase,liver,ornithine metabolism,urea cycle,cytoplasmic

         Enzyme Number (IUBMB): EC 3.5.3.11 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004053arginase activity EXP--
    GO:0016813hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines ----
    GO:0030145manganese ion binding IEA--
    GO:0046872metal ion binding ----
         
    ARG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ARG1:
     Increased S DNA content 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Arg1):
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  normal 

    ARG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ARG1: Arg1tm1Rki Arg1tm1.1Pmu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARG1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARG1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ARG1:
    hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidARG1 3' UTR sequence
    Inhib. RNA
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARG1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    3glutamate degradation X
    Urea cycle0.56
    4Carbon metabolism
    Biosynthesis of amino acids0.37
    5Spinal Cord Injury
    Spinal Cord Injury

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ARG1
        NgR-p75(NTR)-Mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for ARG1
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for ARG1
        NO-dependent CFTR activation (normal and CF)

    4 BioSystems Pathways for ARG1
        Spinal Cord Injury
    ATF-2 transcription factor network
    IL4-mediated signaling events
    Urea cycle and metabolism of amino groups


    3        Reactome Pathways for ARG1
        Metabolism
    Metabolism of amino acids and derivatives
    Urea cycle


    4         Kegg Pathways  (Kegg details for ARG1):
        Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids
    Amoebiasis

    UniProtKB/Swiss-Prot: ARGI1_HUMAN, P05089
    Pathway: Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1


    ARG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/59 Interacting proteins for ARG1 (P050892, 3 ENSP000003570664) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206379O759552, 3, ENSP000003728734MINT-3974680 I2D: score=3 STRING: ENSP00000372873
    ENSG00000206480O759552, 3MINT-3974680 I2D: score=3 
    ENSG00000230143O759552, 3MINT-3974680 I2D: score=3 
    ENSG00000232280O759552, 3MINT-3974680 I2D: score=3 
    FLOT1O759552, 3, ENSP000003655694MINT-3974680 I2D: score=3 STRING: ENSP00000365569
    About this table

    Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0001889liver development IEA--
    GO:0001938positive regulation of endothelial cell proliferation IEA--
    GO:0006525arginine metabolic process ----
    GO:0006527arginine catabolic process TAS3540966

    ARG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARG1 for compounds           About GeneDecksing

    EMD Millipore small molecules for ARG1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for ARG1

    Browse Tocris compounds for ARG1 (ARGI1)

    5 HMDB Compounds for ARG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    Manganesemanganese 7439-96-5--
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    UreaCarbonyl diamine (see all 90)57-13-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/12 DrugBank Compounds for ARG1 (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--12589193 12135320 12446178 12679340 11971019
    2(S)-Amino-6-Boronohexanoic Acid-- --target--17139284 17016423 10592235
    Descarboxy-nor-N(Omega)-Hydroxy-L-Arginine-- --target--17139284 17016423 10592235
    Dinor-N(Omega)-Hydroxy-L-Arginine-- --target--17139284 17016423 10592235
    N-Omega-Hydroxy-L-Arginine-- --target--17139284 17016423 10592235
    Nor-N-Omega-Hydroxy-L-Arginine-- --target--17139284 17016423 10592235
    S,S-(2-Hydroxyethyl)Thiocysteine-- --target--17139284 17016423 10592235
    S-2-(Boronoethyl)-L-Cysteine-- --target--17139284 17016423 10592235
    S-{2-[Amino(Dihydroxy)-Lambda~4~-Sulfanyl]Ethyl}-D-Cysteine-- --target--17139284 17016423 10592235
    Urea-- 57-13-6target--17139284 17016423 10592235

    10/27 Novoseek inferred chemical compound relationships for ARG1 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2(s)-amino-6-boronohexanoic acid 89.3 7 16141327 (2), 17562323 (1), 11478904 (1)
    ornithine 86.4 28 9874001 (2), 11370664 (2), 17098461 (2), 17708746 (2) (see all 19)
    arginine 83.7 104 15780765 (3), 15289616 (3), 17708746 (3), 19577247 (2) (see all 52)
    s-2-(boronoethyl)-l-cysteine 82.3 4 11478904 (1), 16141327 (1)
    urea 69.9 16 17098461 (2), 9874001 (1), 11370664 (1), 9131018 (1) (see all 12)
    manganese 64.2 10 12820884 (1), 17469833 (1), 10872443 (1), 17252946 (1) (see all 10)
    nitric oxide 63 59 11080091 (6), 17119118 (2), 17194896 (2), 17291856 (2) (see all 30)
    citrulline 59.8 1 19638312 (1)
    agmatine 58.3 1 16094464 (1)
    proline 55.6 7 17252946 (3), 11370664 (1), 9636659 (1), 20107769 (1) (see all 5)

    3 PharmGKB related drug/compound annotations for ARG1 gene    About this table
    Drug/compound PharmGKB Annotation
    phenylacetic acid
    selective beta-2-adrenoreceptor agonistsCA  
    sodium benzoate

    Search CenterWatch for drugs/clinical trials and news about ARG1 / ARGI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARG1 gene (2 alternative transcripts): 
    NM_000045.3  NM_001244438.1  

    Unigene Cluster for ARG1:

    Arginase, liver
    Hs.440934  [show with all ESTs]
    Unigene Representative Sequence: AK128314
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368087(uc003qco.2 uc003qcp.2 uc010kfm.2) ENST00000469293
    ENST00000356962 ENST00000275196 ENST00000476845 ENST00000498260 ENST00000492505
    ENST00000473794 ENST00000484820
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARG1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARG1

    Additional mRNA sequence: 

    AK128314.1 AY074488.1 BC005321.1 BC020653.1 BT006741.1 M14502.1 

    14 DOTS entries:

    DT.115141  DT.95173781  DT.91772406  DT.121372519  DT.446742  DT.75196334  DT.95173777  DT.95262884 
    DT.100796734  DT.100796737  DT.100727541  DT.406880  DT.95151751  DT.95364047 

    24/147 AceView cDNA sequences (see all 147):

    N68409 BM729221 AL601926 BG562548 AK128314 AL596878 BC005321 NM_000045 
    AA453673 CR615342 CB162352 BG617358 CB164753 CB162422 BC020653 BX494188 
    CB163950 CB163226 CB161540 BU657257 M14502 CB154102 R01795 N91204 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARG1 expression in normal human tissues (normalized intensities)      ARG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTCAAAA
    ARG1 Expression
    About this image


    ARG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See ARG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARG1

    SOURCE GeneReport for Unigene cluster: Hs.440934
        SABiosciences Expression via Pathway-Focused PCR Arrays including ARG1: 
              Neurotoxicity in human mouse rat
              Allergy & Asthma in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARG1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arg11 , 5 arginase, liver1, 5 83.13(n)1
    86.96(a)1
      10 (12.26 cM)5
    118461  NM_007482.31  NP_031508.11 
     249152085 
    African clawed frog
    (Xenopus laevis)
    Amphibia arg1-prov2 arginase 75.74(n)    BC043635.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arg11 arginase, liver 64.54(n)
    62.94(a)
      570368  NM_001045197.1  NP_001038662.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta arg6
    arginase
    34(a)
    1 → many
    X(403451-422067)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAR1(YPL111W)4
    CAR11
    Arginase, responsible for arginine degradation, expression more4
    Car1p1
    49.39(n)1
    44.85(a)1
      16(339944-340945)4
    8559931, 4  NP_015214.11, 4 


    ENSEMBL Gene Tree for ARG1 (if available)
    TreeFam Gene Tree for ARG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARG1 gene
    ARG22  AGMAT2  
    1 SIMAP similar gene for ARG1 using alignment to 1 protein entry:     ARGI1_HUMAN:
    ARG2

    ARG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/38 SNPs in ARG1 are shown (see all 38)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0006744
    Argininemia (ARGIN)4--see VAR_0006742 G R mis40--------
    VAR_0155954
    Argininemia (ARGIN)4--see VAR_0155952 G V mis40--------
    rs289414741,2,4
    CArgininemia (ARGIN)4 pathogenic1131895689(+) GATTAC/TTGGAG 4 T I mis1 ese30--------
    VAR_0006754
    ----see VAR_0006752 T S mis40--------
    rs1822891461,2
    --131893133(+) CCTATC/TTGGAA 2 -- us2k10--------
    rs27816651,2
    C,F,A,H--131893247(+) TGGGGA/TTACAG 2 -- us2k112Minor allele frequency- T:0.41NS EA WA NA CSA 771
    rs26088971,2
    C,F,O,A,H--131893463(-) GGGAAG/AGTGTC 2 -- us2k124Minor allele frequency- A:0.46NS EA NA WA CSA 2553
    rs748333281,2
    C,F--131893528(+) ATCCCG/AACTTT 2 -- us2k11Minor allele frequency- A:0.10WA 118
    rs603893581,2
    C,F--131893557(+) GGCAAC/TGGGTC 2 -- us2k14Minor allele frequency- T:0.12WA NA 242
    rs1385850021,2
    --131893558(+) GCAACA/GGGTCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARG1 (131894284 - 131905472 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ARG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv886668CNV Gain21882294


    Human Gene Mutation Database (HGMD): ARG1

    Locus Specific Mutation Databases (LSDB): ARG1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608313   
    OMIM disorders: 207800  
    UniProtKB/Swiss-Prot: ARGI1_HUMAN, P05089
  • Argininemia (ARGIN) [MIM:207800]: 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 and progressive spastic
    quadriplegia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/49 diseases for ARG1 (see all 49):    About MalaCards
    hyperargininemia    recessive dystrophic epidermolysis bullosa    q fever    spastic quadriplegia
    cysticercosis    quadriplegia    spastic diplegia    autoimmune hepatitis
    schistosomiasis    epidermolysis bullosa    spinal cord injury    sickle cell disease
    vaginitis    psoriasis    hypotonia    atopy
    hepatoblastoma    spasticity    hepatitis c    bronchiolitis

    1 disease from the University of Copenhagen DISEASES database for ARG1:
    Hyperargininemia

    ARG1 for disorders           About GeneDecksing

    10/23 Novoseek inferred disease relationships for ARG1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperargininemia 93.7 20 10502833 (2), 15565656 (2), 1463019 (1), 11883902 (1) (see all 13)
    hyperammonemia 57.8 5 15465784 (1), 8454280 (1), 15050972 (1), 9608538 (1)
    hepatitis autoimmune 41.4 4 11750286 (2), 10520898 (2)
    asthma 32.9 30 19281908 (5), 19286931 (4), 20124949 (4), 17015747 (2) (see all 7)
    inflammation 30.1 9 19286931 (2), 19737603 (1), 19486531 (1), 20483789 (1) (see all 7)
    infection chronic 28.2 1 16186186 (1)
    hepatocellular carcinoma 26.7 1 19138817 (1)
    molecular pathology 22.5 1 1598908 (1)
    liver diseases 19.3 6 11676974 (4), 8387407 (1), 10520898 (1)
    tumors 14.7 26 15313928 (6), 19414774 (2), 8124860 (1), 18828017 (1) (see all 9)

    Genatlas disease: ARG1
    argininemia,with progressive spastic quadriplegia and mental retardation

    GeneTests: ARG1
    GeneReviews: ARG1
    Genetic Association Database (GAD): ARG1
    Human Genome Epidemiology (HuGE) Navigator: ARG1 (18 documents)

    Export disorders for ARG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ARG1 gene, integrated from 9 sources (see all 262):
    (articles sorted by number of sources associating them with ARG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Arginase 1 and arginase 2 variations associate with a sthma, asthma severity and beta2 agonist and steroid response. (PubMed id 20124949)1, 4, 9 Vonk J.M....Meurs H. (2010)
    2. Roles of arginase variants, atopy, and ozone in childhood asthma. (PubMed id 19281908)1, 4, 9 Salam M.T....Gilliland F.D. (2009)
    3. Genetic polymorphisms in arginase I and II and childhood asthma and atopy. (PubMed id 16387594)1, 4, 9 Li H....London S.J. (2006)
    4. Characterization of arginase 1 gene polymorphisms in the Algerian population and association with blood pressure. (PubMed id 19303401)1, 4, 9 Meroufel D....Brousseau T. (2009)
    5. Expression of human liver arginase in Escherichia coli. Purification and properties of the product. (PubMed id 2241902)1, 2, 9 Ikemoto M....Murachi T. (1990)
    6. Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima media thickness. (PubMed id 17369504)1, 4, 9 Dumont J....Brousseau T. (2007)
    7. Crystal structure of human arginase I complexed with thiosemicarbazide reveals an unusual thiocarbonyl mu-sulfide ligand in the binuclear manganese cluster. (PubMed id 17469833)1, 2, 9 Di Costanzo L.... Christianson D.W. (2007)
    8. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. (PubMed id 1463019)1, 2, 9 Uchino T.... Matsuda I. (1992)
    9. Molecular genetic study of human arginase deficiency. (PubMed id 1598908)1, 2, 9 Grody W.W....Cederbaum S.D. (1992)
    10. Analysis of novel ARG1 mutations causing hyperarginine mia and correlation with arginase I activity in erythrocytes. (PubMed id 22959135)1, 3 Carvalho D.R....Pratesi R. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 383 HGNC: 663 AceView: ARG1 Ensembl:ENSG00000118520 euGenes: HUgn383
    ECgene: ARG1 Kegg: 383 H-InvDB: ARG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARG1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARG1
    Wikipedia http://en.wikipedia.org/wiki/Arginase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARG1 gene:
    Search GeneIP for patents involving ARG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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