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    ARG1 arginase 1 [ Homo sapiens (human) ]

    Gene ID: 383, updated on 13-May-2024

    Summary

    Official Symbol
    ARG1provided by HGNC
    Official Full Name
    arginase 1provided by HGNC
    Primary source
    HGNC:HGNC:663
    See related
    Ensembl:ENSG00000118520 MIM:608313; AllianceGenome:HGNC:663
    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]
    Expression
    Biased expression in liver (RPKM 237.4), bone marrow (RPKM 81.9) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See ARG1 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573226..131584329)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132767703..132778804)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131894366..131905469)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131825416-131826081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:131852503-131853004 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131893832-131894333 Neighboring gene mediator complex subunit 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17546 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132021641-132022226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132022227-132022812 Neighboring gene olfactory receptor family 2 subfamily A member 4

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Arginase deficiency Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study on obesity and obesity-related traits.
    EBI GWAS Catalog
    New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arginase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables manganese ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus HDA PubMed 
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    arginase-1
    Names
    arginase, liver
    liver-type arginase
    type I arginase
    NP_000036.2
    NP_001231367.1
    NP_001355949.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5002..16105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000045.4NP_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)
      BC020653, BG542163
      Consensus CDS
      CCDS5145.1
      UniProtKB/Swiss-Prot
      A6NEA0, P05089, Q5JWT5, Q5JWT6, Q8TE72, Q9BS50
      UniProtKB/TrEMBL
      A0A5F9ZGN6
      Related
      ENSP00000357066.3, ENST00000368087.8
      Conserved Domains (1) summary
      cd11587
      Location:9303
      Arginase-like; Arginase types I and II and arginase-like family
    2. NM_001244438.2NP_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)
      AY074488, BC020653
      Consensus CDS
      CCDS59038.1
      UniProtKB/TrEMBL
      A0A5F9ZGN6
      Related
      ENSP00000349446.2, ENST00000356962.2
      Conserved Domains (1) summary
      cd11587
      Location:9311
      Arginase-like; Arginase types I and II and arginase-like family
    3. NM_001369020.1NP_001355949.1  arginase-1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Consensus CDS
      CCDS94002.1
      UniProtKB/TrEMBL
      A0A5F9ZH78
      Related
      ENSP00000500160.1, ENST00000673427.1
      Conserved Domains (1) summary
      cl17011
      Location:9218
      Arginase_HDAC; Arginase-like and histone-like hydrolases

    RNA

    1. NR_160934.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121575

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      131573226..131584329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132767703..132778804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)