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    ARG1 arginase 1 [ Homo sapiens (human) ]

    Gene ID: 383, updated on 23-Apr-2017
    Official Symbol
    ARG1provided by HGNC
    Official Full Name
    arginase 1provided by HGNC
    Primary source
    HGNC:HGNC:663
    See related
    Ensembl:ENSG00000118520 MIM:608313; Vega:OTTHUMG00000015566
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    6q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (131573159..131584332)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131894344..131905472)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene mediator complex subunit 23 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene olfactory receptor family 2 subfamily A member 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Arginase deficiency
    MedGen: C0268548 OMIM: 207800 GeneReviews: Arginase Deficiency
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on obesity and obesity-related traits.
    NHGRI GWA Catalog
    New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arginase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    arginine catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    arginine catabolic process to ornithine IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucagon stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interleukin-4 IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland involution IEA
    Inferred from Electronic Annotation
    more info
     
    maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    protein homotrimerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of L-arginine import IEA
    Inferred from Electronic Annotation
    more info
     
    response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to methylmercury IEA
    Inferred from Electronic Annotation
    more info
     
    response to selenium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle IEA
    Inferred from Electronic Annotation
    more info
     
    urea cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    arginase-1
    Names
    arginase, liver
    liver-type arginase
    type I arginase
    NP_000036.2
    NP_001231367.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007086.2 RefSeqGene

      Range
      4980..16108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000045.3NP_000036.2  arginase-1 isoform 2

      See identical proteins and their annotated locations for NP_000036.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AW236349, BC020653, BG217880, BG542163
      Consensus CDS
      CCDS5145.1
      UniProtKB/Swiss-Prot
      P05089
      Related
      ENSP00000357066.3, OTTHUMP00000017209, ENST00000368087.7, OTTHUMT00000042223
      Conserved Domains (1) summary
      cd11587
      Location:9303
      Arginase-like; Arginase types I and II and arginase-like family
    2. NM_001244438.1NP_001231367.1  arginase-1 isoform 1

      See identical proteins and their annotated locations for NP_001231367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as erythroid variant) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW236349, AY074488, BC020653, BG217880, BG542163
      Consensus CDS
      CCDS59038.1
      UniProtKB/Swiss-Prot
      P05089
      Related
      ENSP00000349446.2, OTTHUMP00000017210, ENST00000356962.2, OTTHUMT00000042226
      Conserved Domains (1) summary
      cd11587
      Location:9311
      Arginase-like; Arginase types I and II and arginase-like family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      131573159..131584332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535801.2XP_011534103.1  arginase-1 isoform X1

      Conserved Domains (1) summary
      cl17011
      Location:9218
      Arginase_HDAC; Arginase-like and histone-like hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      132158130..132169259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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