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
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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (131573226..131584329)
105.20201022	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A possible role for inducible arginase isoform (AI) in the pathogenesis of chronic venous leg ulcer.
Title: A possible role for inducible arginase isoform (AI) in the pathogenesis of chronic venous leg ulcer.
Red Blood Cell Peroxynitrite Causes Endothelial Dysfunction in Type 2 Diabetes Mellitus via Arginase.
Title: Red Blood Cell Peroxynitrite Causes Endothelial Dysfunction in Type 2 Diabetes Mellitus via Arginase.
Arginase as a Potential Biomarker of Disease Progression: A Molecular Imaging Perspective.
Title: Arginase as a Potential Biomarker of Disease Progression: A Molecular Imaging Perspective.
Detection and functional evaluation of arginase-1 isolated from human PMNs and murine MDSC.
Title: Detection and functional evaluation of arginase-1 isolated from human PMNs and murine MDSC.
The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.
Title: The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report.
Title: A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report.
Cytochrome P450 1A1 enhances Arginase-1 expression, which reduces LPS-induced mouse peritonitis by targeting JAK1/STAT6.
Title: Cytochrome P450 1A1 enhances Arginase-1 expression, which reduces LPS-induced mouse peritonitis by targeting JAK1/STAT6.
ARG1 was significantly up-regulated in acute myocardial infarction patients compared to controls.
Title: Clinical value of ARG1 in acute myocardial infarction patients: Bioinformatics-based approach.
the Fra-1/ARG1 ratio in synovial macrophages was related to RA disease activity. In conclusion, these data suggest that Fra-1 orchestrates the inflammatory state of macrophages by inhibition of Arg1 expression and thereby impedes the resolution of inflammation.
Title: Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis.
IL-33 may be a crucial mediator of the immune response against an H. pylori infection, after gastric mucosal damage; ARG1 and Treg profile appeared to be modulating the inflammatory process, protecting patients from the tissue lesions with chronic inactive gastritis
Title: Arginase-1 and Treg Profile Appear to Modulate Inflammatory Process in Patients with Chronic Gastritis: <i>IL-33</i> May Be the Alarm Cytokine in <i>H. pylori</i>-Positive Patients.

Submit: New GeneRIF Correction See all GeneRIFs (134)

Phenotypes

Go to the top of the page Help

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
A genome-wide association study on obesity and obesity-related traits. GeneReviews: Not available
Arginase deficiency MedGen: C0268548 OMIM: 207800	Compare labs
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. GeneReviews: Not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 249 organisms have orthologs with human gene ARG1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
arginase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
identical protein binding	IEA Inferred from Electronic Annotation more info
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
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	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 more info	PubMed
specific granule lumen	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_007086.2 RefSeqGene

Range

5002..16105

Download

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

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

Related

ENSP00000500160.1, ENST00000673427.1

Conserved Domains (1) summary

cl17011
Location:9 → 218

Arginase_HDAC; Arginase-like and histone-like hydrolases