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Aliases for ARG1 Gene

Aliases for ARG1 Gene

  • Arginase 1 2 3 5
  • Liver-Type Arginase 3 4
  • Arginase, Liver 2 3
  • Type I Arginase 3 4
  • EC 4 58
  • Arginase-1 3

External Ids for ARG1 Gene

Previous GeneCards Identifiers for ARG1 Gene

  • GC06P131741
  • GC06P131874
  • GC06P131936
  • GC06P129475

Summaries for ARG1 Gene

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 Argininemia and Blue Toe Syndrome. Among its related pathways are Metabolism and ATF-2 transcription factor network. GO annotations related to this gene include manganese ion binding and arginase activity. An important paralog of this gene is ARG2.

Additional gene information for ARG1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARG1 Gene

Genomics for ARG1 Gene

Regulatory Elements for ARG1 Gene

Enhancers for ARG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H131639 1.2 FANTOM5 ENCODE 43.6 +67.1 67123 1.1 HDAC1 PKNOX1 ATF1 TBL1XR1 NFRKB TCF12 ZNF766 GATA2 ELK1 ATF7 ARG1 RNU4-18P ENPP3
GH06H131634 1 ENCODE 44.3 +63.7 63687 4.5 FOXA2 ATF1 MLX ZFP64 ZNF133 ARID4B DMAP1 YY1 MXD4 NFYC ARG1 ENPP3 RNU4-18P
GH06H131627 1.2 ENCODE 27.2 +55.0 54973 2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC MED23 ARG1
GH06H131602 0.5 ENCODE 62 +30.1 30077 1.2 JUND FOS MAFK ARG1 MED23 ENPP3 RNU4-18P
GH06H131651 0.7 ENCODE 39.5 +79.3 79256 1.7 FOXA2 MAX MNT ZIC2 YY1 FOXA1 JUND GATA3 ATF3 CUX1 ARG1 RNU4-18P GC06M131690
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARG1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARG1 Gene

Genomic Locations for ARG1 Gene
11,189 bases
Plus strand

Genomic View for ARG1 Gene

Genes around ARG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARG1 Gene

Proteins for ARG1 Gene

  • Protein details for ARG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A6NEA0
    • Q5JWT5
    • Q5JWT6
    • Q8TE72
    • Q9BS50

    Protein attributes for ARG1 Gene

    322 amino acids
    Molecular mass:
    34735 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for ARG1 Gene

    Alternative splice isoforms for ARG1 Gene


neXtProt entry for ARG1 Gene

Selected DME Specific Peptides for ARG1 Gene


Post-translational modifications for ARG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARG1 Gene

Protein Products

Domains & Families for ARG1 Gene

Gene Families for ARG1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ARG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the arginase family.
  • Belongs to the arginase family.
genes like me logo Genes that share domains with ARG1: view

Function for ARG1 Gene

Molecular function for ARG1 Gene

GENATLAS Biochemistry:
arginase,liver,ornithine metabolism,urea cycle,cytoplasmic
UniProtKB/Swiss-Prot CatalyticActivity:
L-arginine + H(2)O = L-ornithine + urea.
UniProtKB/Swiss-Prot Induction:
By arginine or homoarginine.

Enzyme Numbers (IUBMB) for ARG1 Gene

Phenotypes From GWAS Catalog for ARG1 Gene

Gene Ontology (GO) - Molecular Function for ARG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004053 arginase activity EXP,TAS 16141327
GO:0016787 hydrolase activity IEA --
GO:0016813 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IEA --
GO:0030145 manganese ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARG1: view
genes like me logo Genes that share phenotypes with ARG1: view

Human Phenotype Ontology for ARG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARG1 Gene

MGI Knock Outs for ARG1:

Animal Model Products

miRNA for ARG1 Gene

miRTarBase miRNAs that target ARG1

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for ARG1 Gene

Localization for ARG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARG1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARG1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
lysosome 4
mitochondrion 3
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ARG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 16709924
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm TAS 3540966
GO:0005741 mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with ARG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARG1 Gene

Pathways & Interactions for ARG1 Gene

genes like me logo Genes that share pathways with ARG1: view

UniProtKB/Swiss-Prot P05089-ARGI1_HUMAN

  • Pathway: Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.

Gene Ontology (GO) - Biological Process for ARG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0001889 liver development IEA --
GO:0001938 positive regulation of endothelial cell proliferation IEA --
GO:0006525 arginine metabolic process IEA --
GO:0006527 arginine catabolic process TAS 3540966
genes like me logo Genes that share ontologies with ARG1: view

No data available for SIGNOR curated interactions for ARG1 Gene

Drugs & Compounds for ARG1 Gene

(31) Drugs for ARG1 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urea Approved Pharma Target 0
Manganese Approved Nutra Target 35
Ornithine Approved Nutra Target 70
Phenylacetic acid Approved Pharma 12
Water Approved Pharma 0

(10) Additional Compounds for ARG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ARG1 Gene

Compound Action Cas Number
Arginase inhibitor 1 1345808-25-4
genes like me logo Genes that share compounds with ARG1: view

Drug Products

Transcripts for ARG1 Gene

Unigene Clusters for ARG1 Gene

Arginase, liver:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARG1 Gene

No ASD Table

Relevant External Links for ARG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARG1 Gene

This gene is overexpressed in Liver (x28.1) and Whole Blood (x17.7).

Protein differential expression in normal tissues from HIPED for ARG1 Gene

This gene is overexpressed in Liver, secretome (40.5) and Liver (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARG1 Gene:


SOURCE GeneReport for Unigene cluster for ARG1 Gene:


Evidence on tissue expression from TISSUES for ARG1 Gene

  • Liver(4.9)
  • Blood(4.7)
  • Muscle(4.3)
  • Bone marrow(2.9)
  • Spleen(2.6)
  • Lung(2.5)
  • Skin(2.5)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • head
  • esophagus
  • kidney
  • stomach
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ARG1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ARG1 Gene

Orthologs for ARG1 Gene

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

Orthologs for ARG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ARG1 33 34
  • 99.38 (n)
(Canis familiaris)
Mammalia ARG1 33 34
  • 90.2 (n)
(Bos Taurus)
Mammalia ARG1 33 34
  • 89.34 (n)
(Monodelphis domestica)
Mammalia ARG1 34
  • 86 (a)
(Mus musculus)
Mammalia Arg1 33 16 34
  • 83.13 (n)
(Rattus norvegicus)
Mammalia Arg1 33
  • 82.71 (n)
(Ornithorhynchus anatinus)
Mammalia ARG1 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arg1 33
  • 68.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia arg1-prov 33
(Danio rerio)
Actinopterygii arg1 33 34
  • 64.54 (n)
ARG1 (1 of 2) 34
  • 57 (a)
fruit fly
(Drosophila melanogaster)
Insecta arg 34
  • 35 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F00704g 33
  • 48.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAR1 33 34 36
  • 48.22 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR225C 33
  • 46.69 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02333 33
  • 50.89 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes car1 33
  • 49.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8475 34
  • 42 (a)
Species where no ortholog for ARG1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARG1 Gene

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

Paralogs for ARG1 Gene

Paralogs for ARG1 Gene

(1) SIMAP similar genes for ARG1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ARG1: view

Variants for ARG1 Gene

Sequence variations from dbSNP and Humsavar for ARG1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs104893943 Pathogenic, Argininemia (ARGIN) [MIM:207800] 131,581,326(+) AAGTG(G/T)AAACT intron-variant, reference, missense
rs104893948 Pathogenic, Argininemia (ARGIN) [MIM:207800] 131,583,392(+) TTGAC(A/C/G)GACTG intron-variant, reference, missense
rs28941474 Pathogenic, Argininemia (ARGIN) [MIM:207800] 131,573,314(+) GATTA(C/T)TGGAG reference, missense
rs377280518 Argininemia (ARGIN) [MIM:207800] 131,583,862(+) TGCTC(A/G)GGAGG intron-variant, reference, missense
VAR_072164 Argininemia (ARGIN) [MIM:207800]

Structural Variations from Database of Genomic Variants (DGV) for ARG1 Gene

Variant ID Type Subtype PubMed ID
nsv950509 CNV duplication 24416366

Variation tolerance for ARG1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARG1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARG1 Gene

Disorders for ARG1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ARG1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • hyperargininemia
blue toe syndrome
intestinal schistosomiasis
  • katayama fever
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search ARG1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:1463019, ECO:0000269 PubMed:22959135, ECO:0000269 PubMed:23859858, ECO:0000269 PubMed:7649538}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ARG1 Gene

argininemia,with progressive spastic quadriplegia and mental retardation

Relevant External Links for ARG1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ARG1: view

Publications for ARG1 Gene

  1. Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. (PMID: 22959135) Carvalho DR … Pratesi R (Gene 2012) 2 3 4 60
  2. Arginase 1 and arginase 2 variations associate with asthma, asthma severity and beta2 agonist and steroid response. (PMID: 20124949) Vonk JM … Meurs H (Pharmacogenetics and genomics 2010) 3 22 45 60
  3. Roles of arginase variants, atopy, and ozone in childhood asthma. (PMID: 19281908) Salam MT … Gilliland FD (The Journal of allergy and clinical immunology 2009) 3 22 45 60
  4. Characterization of arginase 1 gene polymorphisms in the Algerian population and association with blood pressure. (PMID: 19303401) Meroufel D … Brousseau T (Clinical biochemistry 2009) 3 22 45 60
  5. Crystal structure of human arginase I complexed with thiosemicarbazide reveals an unusual thiocarbonyl mu-sulfide ligand in the binuclear manganese cluster. (PMID: 17469833) Di Costanzo L … Christianson DW (Journal of the American Chemical Society 2007) 3 4 22 60

Products for ARG1 Gene

Sources for ARG1 Gene

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