ARG1 arginase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 6q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (131573226..131584329)
110	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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.
Title: Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.
Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in the Han Chinese population.
Title: Common variants in <i>AGR1</i> genes contributed to the risk and traits of cirrhotic cardiomyopathy in the Han Chinese population.
Physical Interaction between Embryonic Stem Cell-Expressed Ras (ERas) and Arginase-1 in Quiescent Hepatic Stellate Cells.
Title: Physical Interaction between Embryonic Stem Cell-Expressed Ras (ERas) and Arginase-1 in Quiescent Hepatic Stellate Cells.
Efficacy of expressions of Arg-1, Hep Par-1, and CK19 in the diagnosis of the primary hepatocellular carcinoma subtypes and exclusion of the metastases.
Title: Efficacy of expressions of Arg-1, Hep Par-1, and CK19 in the diagnosis of the primary hepatocellular carcinoma subtypes and exclusion of the metastases.
Development of a Novel Label-Free and High-Throughput Arginase-1 Assay Using Self-Assembled Monolayer Desorption Ionization Mass Spectrometry.
Title: Development of a Novel Label-Free and High-Throughput Arginase-1 Assay Using Self-Assembled Monolayer Desorption Ionization Mass Spectrometry.
Expression dynamics of the immune mediators ARG1, TBET, CIITA, IL10 and TGFB1 in chronic myeloid leukaemia patients during the first year of imatinib therapy.
Title: Expression dynamics of the immune mediators ARG1, TBET, CIITA, IL10 and TGFB1 in chronic myeloid leukaemia patients during the first year of imatinib therapy.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Title: Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
CD15(+) Bone Marrow-derived Cells Are Regulators of Immune Response in ARG1-producing Colorectal Cancer Cells.
Title: CD15<sup>+</sup> Bone Marrow-derived Cells Are Regulators of Immune Response in ARG1-producing Colorectal Cancer Cells.
Neuroblastoma Formation Requires Unconventional CD4 T Cells and Arginase-1-Dependent Myeloid Cells.
Title: Neuroblastoma Formation Requires Unconventional CD4 T Cells and Arginase-1-Dependent Myeloid Cells.
Arginase II polymorphisms modify the hypotensive responses to propofol by affecting nitric oxide bioavailability.
Title: Arginase II polymorphisms modify the hypotensive responses to propofol by affecting nitric oxide bioavailability.

Submit: New GeneRIF Correction See all GeneRIFs (158)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arginase deficiency MedGen: C0268548 OMIM: 207800 GeneReviews: Arginase Deficiency, Urea Cycle Disorders Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:196989 (e-PCR)
- UniSTS:155906

STS-M14502 (e-PCR)
- UniSTS:40466

RH46810 (e-PCR)
- UniSTS:82885

SHGC-16174 (e-PCR)
- UniSTS:79323

GDB:190876 (e-PCR)
- UniSTS:155628

SGC38314 (e-PCR)
- UniSTS:19443

Homology

Homologs of the ARG1 gene: The ARG1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 325 organisms have orthologs with human gene ARG1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arginase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in aging	IEA Inferred from Electronic Annotation more info
involved_in arginine catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in arginine catabolic process to ornithine	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucagon stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-4	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in defense response to protozoan	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland involution	IEA Inferred from Electronic Annotation more info
involved_in maternal process involved in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T-helper 2 cell cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interferon-gamma-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neutrophil mediated killing of fungus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of L-arginine import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to amino acid	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to herbicide	IEA Inferred from Electronic Annotation more info
involved_in response to manganese ion	IEA Inferred from Electronic Annotation more info
involved_in response to methylmercury	IEA Inferred from Electronic Annotation more info
involved_in response to selenium ion	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in urea cycle	IEA Inferred from Electronic Annotation more info

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	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: arginase-1

Names: arginase, liver; liver-type arginase; type I arginase

NP_000036.2

EC 3.5.3.1

NP_001231367.1

EC 3.5.3.1

NP_001355949.1

EC 3.5.3.1

NCBI Reference Sequences (RefSeq)

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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

NG_007086.2 RefSeqGene

Range

5002..16105

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000045.4 → NP_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

P05089, Q9BS50

Related

ENSP00000357066.3, ENST00000368087.8

Conserved Domains (1) summary

cd11587
Location:9 → 303

Arginase-like; Arginase types I and II and arginase-like family
NM_001244438.2 → NP_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/Swiss-Prot

P05089

Related

ENSP00000349446.2, ENST00000356962.2

Conserved Domains (1) summary

cd11587
Location:9 → 311

Arginase-like; Arginase types I and II and arginase-like family
NM_001369020.1 → NP_001355949.1 arginase-1 isoform 3

Status: REVIEWED

Source sequence(s)

AL121575

UniProtKB/TrEMBL

A0A5F9ZH78

Related

ENSP00000500160.1, ENST00000673427.1

Conserved Domains (1) summary

cl17011
Location:9 → 218

Arginase_HDAC; Arginase-like and histone-like hydrolases