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
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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (131573226..131584329)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (132767703..132778804)
RS_2024_09	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?

Emergence of dysfunctional neutrophils with a defect in arginase-1 release in severe COVID-19.
Title: Emergence of dysfunctional neutrophils with a defect in arginase-1 release in severe COVID-19.
Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal Cancer.
Title: Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal Cancer.
Arginase-induced cell death pathways and metabolic changes in cancer cells are not altered by insulin.
Title: Arginase-induced cell death pathways and metabolic changes in cancer cells are not altered by insulin.
DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
Title: DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression.
Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract.
Title: Arginase-1 promotes lens epithelial-to-mesenchymal transition in different models of anterior subcapsular cataract.
Arginase 1 is a key driver of immune suppression in pancreatic cancer.
Title: Arginase 1 is a key driver of immune suppression in pancreatic cancer.
Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.
Title: Arginase-1+ bone marrow myeloid cells are reduced in myeloproliferative neoplasms and correlate with clinical phenotype, fibrosis, and molecular driver.
Pathophysiological correlation of arginase-1 in development of type 2 diabetes from obesity in adolescents.
Title: Pathophysiological correlation of arginase-1 in development of type 2 diabetes from obesity in adolescents.
Expression of Inhibitory Molecules (Arginase-1, IDO, and PD-L1) by Myeloid-Derived Suppressor Cells in Multiple Myeloma Patients in Remission.
Title: Expression of Inhibitory Molecules (Arginase-1, IDO, and PD-L1) by Myeloid-Derived Suppressor Cells in Multiple Myeloma Patients in Remission.
Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression in tumor-associated neutrophils.
Title: Annexin A2/TLR2/MYD88 pathway induces arginase 1 expression in tumor-associated neutrophils.

Submit: New GeneRIF Correction See all GeneRIFs (170)

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
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

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

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

Process	Evidence Code	Pubs
involved_in adaptive immune response	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
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 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 type II interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neutrophil mediated killing of fungus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nematode	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
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 more info	PubMed
located_in 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

A6NEA0, P05089, Q5JWT5, Q5JWT6, Q8TE72, Q9BS50

UniProtKB/TrEMBL

A0A5F9ZGN6

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/TrEMBL

A0A5F9ZGN6

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

Consensus CDS

CCDS94002.1

UniProtKB/TrEMBL

A0A5F9ZH78

Related

ENSP00000500160.1, ENST00000673427.1

Conserved Domains (1) summary

cl17011
Location:9 → 218

Arginase_HDAC; Arginase-like and histone-like hydrolases