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ARG1 arginase 1 [ Homo sapiens (human) ]

Gene ID: 383, updated on 4-Nov-2018

Summary

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]
Expression
Biased expression in liver (RPKM 237.4), bone marrow (RPKM 81.9) and 1 other tissue See more
Orthologs

Genomic context

See ARG1 in Genome Data Viewer
Location:
6q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arginase activity EXP
Inferred from Experiment
more info
PubMed 
arginase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
arginine catabolic process TAS
Traceable Author Statement
more info
PubMed 
arginine catabolic process to ornithine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
defense response to protozoan IEA
Inferred from Electronic Annotation
more info
 
innate immune response 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
 
negative regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of T-helper 2 cell cytokine production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of activated T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interferon-gamma-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neutrophil mediated killing of fungus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
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 HDA PubMed 
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
XP_011534103.1

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 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
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