Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	383
Gene name	Arginase 1
Gene symbol	ARG1
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6q23.2
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 functi

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941474	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587776539	G>A	Pathogenic	Splice donor variant
rs745624953	G>A	Likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs1554249332	T>C	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024079	hsa-miR-1-3p	Proteomics	18668040
MIRT025899	hsa-miR-7-5p	Microarray	17612493
MIRT028633	hsa-miR-30a-5p	Proteomics	18668040
MIRT734337	hsa-miR-23a-3p	MicroarrayqRT-PCR	31611205
MIRT734342	hsa-miR-34a-5p	MicroarrayqRT-PCR	31611205
MIRT793389	hsa-miR-3148	CLIP-seq
MIRT793390	hsa-miR-3613-3p	CLIP-seq
MIRT793391	hsa-miR-3692	CLIP-seq
MIRT793392	hsa-miR-3978	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
AR	Activation	20711410

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IBA
GO:0000050	Process	Urea cycle	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004053	Function	Arginase activity	IBA
GO:0004053	Function	Arginase activity	IEA
GO:0004053	Function	Arginase activity	TAS	3540966
GO:0005515	Function	Protein binding	IPI	28813417
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	16709924
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	3540966
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006525	Process	Arginine metabolic process	IEA
GO:0006527	Process	L-arginine catabolic process	TAS	3540966
GO:0009624	Process	Response to nematode	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016813	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines	IEA
GO:0030145	Function	Manganese ion binding	IBA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042130	Process	Negative regulation of T cell proliferation	IDA	16709924
GO:0042832	Process	Defense response to protozoan	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046007	Process	Negative regulation of activated T cell proliferation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	IMP	16709924
GO:0070965	Process	Positive regulation of neutrophil mediated killing of fungus	IMP	15546957
GO:2000552	Process	Negative regulation of T-helper 2 cell cytokine production	IEA

MIM	HGNC	e!Ensembl
608313	663	ENSG00000118520

P05089

Protein name

Arginase-1 (EC 3.5.3.1) (Liver-type arginase) (Type I arginase)

Protein function

Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respective

PDB

1WVA , 1WVB , 2AEB , 2PHA , 2PHO , 2PLL , 2ZAV , 3DJ8 , 3E6K , 3E6V , 3F80 , 3GMZ , 3GN0 , 3KV2 , 3LP4 , 3LP7 , 3MFV , 3MFW , 3MJL , 3SJT , 3SKK , 3TF3 , 3TH7 , 3THE , 3THH , 3THJ , 4FCI , 4FCK , 4GSM , 4GSV , 4GSZ , 4GWC , 4GWD , 4HWW , 4HXQ , 4IE1 , 6Q92 , 6Q9P , 6QAF , 6V7C , 6V7D , 6V7E , 6V7F , 7K4G , 7K4H , 7K4I , 7K4J , 7K4K , 7KLK , 7KLL , 7KLM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00491	Arginase	6 → 305	Arginase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Within the immune system initially reported to be selectively expressed in granulocytes (polymorphonuclear leukocytes [PMNs]) (PubMed:15546957). Also detected in macrophages mycobacterial granulomas (PubMed:23749634). Expressed in grou

Sequence

MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPN
DSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGV
IWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVPGFSWVTPCISAKDIVYIGLR
DVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSF
TPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAIT
LACFGLAREGNHKPIDYLNPPK

Sequence length

322

Interactions

View interactions

	KEGG		Reactome
	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids Efferocytosis Amoebiasis		Neutrophil degranulation Urea cycle

526

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ARG1-related disorder	Pathogenic; Likely pathogenic	rs1064794165, rs1169538148, rs753829097	RCV004751557 RCV003907934 RCV004751656
Arginase deficiency	Likely pathogenic; Pathogenic	rs1773910245, rs149310631, rs2114551140, rs2114507395, rs755975244, rs796051923, rs2114539596, rs146625637, rs2114549176, rs2114551021, rs2114545947, rs112432420, rs113645893, rs1311659158, rs748744950 View all (97 more)	RCV001332127 RCV001349284 RCV001375048 RCV001388185 RCV001390418 RCV001384623 RCV001380853 RCV001388640 RCV001389541 RCV001389574 RCV001806384 RCV001844000 RCV002048951 RCV002048877 RCV001871492 RCV001889119 RCV002019961 RCV002007359 RCV001994776 RCV002037913 RCV001933794 RCV001949446 RCV002015942 RCV002021570 RCV002319750 RCV000002487 RCV000002488 RCV000002489 RCV000002490 RCV000002491 RCV000002492 RCV000002493 RCV000002494 RCV000002496 RCV000002498 RCV002306636 RCV002306724 RCV002306772 RCV002309544 RCV002309530 RCV002310217 RCV002310426 RCV002310551 RCV002310572 RCV003060080 RCV003060081 RCV002631007 RCV000666741 RCV002741312 RCV002765367 RCV002819880 RCV002870839 RCV002928484 RCV002953800 RCV003028630 RCV003039629 RCV003056323 RCV003040558 RCV003471784 RCV003463454 RCV003471793 RCV003463465 RCV003471805 RCV003471814 RCV003463483 RCV003471816 RCV003463490 RCV003471819 RCV003463493 RCV003463496 RCV003463501 RCV003463502 RCV003471823 RCV003463503 RCV003471824 RCV003499002 RCV003497727 RCV003604327 RCV003604465 RCV003604805 RCV003602618 RCV003603830 RCV003840068 RCV003990667 RCV004574739 RCV004574768 RCV000666865 RCV000667889 RCV000668053 RCV000556422 RCV000669017 RCV000670532 RCV000664471 RCV000665999 RCV000671671 RCV000674133 RCV000666611 RCV000669434 RCV000673724 RCV000665205 RCV000674834 RCV000674156 RCV000671896 RCV000671959 RCV000667699 RCV000665488 RCV000701044 RCV000779489 RCV000799290 RCV000814071 RCV000805737 RCV000987780 RCV000987781 RCV000987782 RCV001050878 RCV001041742 RCV001057261 RCV001039338 RCV001172232 RCV001280807 RCV001310012

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs144994895	RCV005900056
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs150766204, rs144994895	RCV005899041 RCV005900057
Hepatocellular carcinoma	Benign	rs150766204	RCV005899040
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs144994895	RCV005900058

Show/Hide Text Mining Associations (120)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Stimulate	25591771, 39399429
Adenoma Liver Cell	Associate	20661013
Anthropophobia	Associate	33048872
Arthritis Juvenile	Associate	34480465
Arthritis Psoriatic	Stimulate	12507903
Asthma	Associate	16387594, 18617639, 20851928, 21512169, 30381539
Asthma	Inhibit	19281908
Atherosclerosis	Associate	17369504
Brain Injuries Diffuse	Associate	36894313
Brain Injuries Traumatic	Associate	28222567
Breast Neoplasms	Associate	26061397, 28283696
Breast Neoplasms	Stimulate	31552680
Breast Neoplasms	Inhibit	36949762
Bronchopulmonary Dysplasia	Associate	24919409, 27895230, 30267614
Burns	Associate	35363228
Carcinoma Hepatocellular	Associate	20661013, 22298472, 22434791, 25577247, 30557986, 32118719, 32476791, 37249521, 37530240, 39528951, 40189907
Carcinoma Hepatocellular	Inhibit	30320132
Carcinoma Non Small Cell Lung	Associate	30956278, 36377658
Carcinoma Non Small Cell Lung	Stimulate	40199139
Carcinoma Squamous Cell	Associate	22951905
Cardiomyopathy Dilated	Associate	27287545, 31764771
Cerebellar Hypoplasia	Associate	36305856
Cerebral Infarction	Associate	26515089, 40696650
Cerebral Palsy	Associate	32769929
Cholangiocarcinoma	Associate	32118719, 34715880, 37249521
Chondrosarcoma	Associate	37993261
Colitis Ulcerative	Inhibit	27104830
Colorectal Neoplasms	Associate	26759006, 37530327, 38369188
Coronary Artery Disease	Stimulate	33731531
COVID 19	Associate	33492309, 33674591, 34341659, 37261353, 39253969
COVID 19	Stimulate	35379747
Cystic Fibrosis	Associate	25926674, 35954202
Death	Associate	34341659
Dermatitis Atopic	Inhibit	21211653
Diabetes Mellitus	Associate	21217072, 38255949
Diabetes Mellitus Type 2	Associate	34560403
Endometrial Neoplasms	Stimulate	24658839
Erythema	Stimulate	26061397
Esophageal Neoplasms	Associate	23082063, 31960110
Esophageal Neoplasms	Stimulate	25144454
Esophageal Squamous Cell Carcinoma	Associate	36921563, 37839637
Fever	Stimulate	38139402
Fibrosis	Associate	36524315
Gastritis	Associate	31320834
Glioblastoma	Associate	32498400
Glioma	Associate	27287871, 31195027
Glioma	Stimulate	28107450
Hemangiosarcoma	Associate	24489574
HIV Infections	Stimulate	27534685, 35092727
Hodgkin Disease	Associate	27637084
Hyperargininemia	Associate	21802329, 29443755, 32769929, 36722221
Hypersensitivity Delayed	Associate	36911725
Hypertension Pulmonary	Associate	24919409, 27895230, 30267614
Hypomagnesemia primary	Associate	39712018
Ichthyosis Lamellar	Stimulate	26061397
Idiopathic Pulmonary Fibrosis	Associate	33604393, 38086271
Infarction	Associate	26515089
Inflammation	Associate	28576736, 28658303, 31320834, 32064239, 32600435, 35092727, 35379747, 36462310, 37809107
Inflammation	Inhibit	30320132, 38099990
Ischemic Stroke	Associate	26515089
Kaposi Varicelliform Eruption	Associate	21211653
Leprosy	Associate	35552484
Leukemia	Associate	36960055
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23383287, 25014230
Leukemia Myeloid Acute	Associate	36212177
Liver Neoplasms	Associate	30176945
Lung Diseases	Associate	37809107
Lung Diseases Interstitial	Associate	38086271
Lung Diseases Interstitial	Stimulate	38302188
Lung Neoplasms	Stimulate	31552680
Lung Neoplasms	Associate	38007577
Lymphoma Extranodal NK T Cell	Associate	26497849
Lymphoma T Cell	Associate	33492309
Malaria	Associate	32801995
Malaria Cerebral	Associate	32801995
Metabolism Inborn Errors	Associate	29443755
Microcephaly	Associate	30199767
Mucocutaneous Lymph Node Syndrome	Associate	37837870, 38427757
Multiple Sclerosis	Associate	34025661
Multiple System Atrophy	Associate	29850876
Myasthenia Gravis	Associate	37414259
Myelodysplastic Syndromes	Associate	15147372, 37366304
Myocardial Infarction	Associate	17369504, 25469788, 31772617
Neoplasm Metastasis	Associate	30320132
Neoplasms	Associate	22434791, 26514486, 26759006, 30320132, 32118719, 32313729, 32415175, 32476791, 33395072, 33714729, 36377658, 36524315, 36911725, 36921563, 36933158 View all (6 more)
Neoplasms	Stimulate	30180849
Neoplasms	Inhibit	32872669
Neuroblastoma	Associate	25961062, 26161395
Obesity	Stimulate	32313729
Osteoarthritis	Associate	32925767
Pancreatic Neoplasms	Associate	21347333, 22434791, 24741628
Panic Disorder	Associate	35105872
Papilloma	Inhibit	39712018
Pneumonia Ventilator Associated	Associate	32031163
Polycystic Ovary Syndrome	Associate	29055959
Prostatic Neoplasms	Associate	20711410
Psoriasis	Associate	12507903
Pulmonary Arterial Hypertension	Associate	33604393
Pulmonary Embolism	Associate	26337933
Pulmonary Fibrosis	Associate	38302188
Respiratory Distress Syndrome	Associate	32282748, 37261353
Retinal Arterial Macroaneurysm	Associate	21217072
Rhinitis Vasomotor	Associate	21217072
Sarcoidosis	Associate	21356378
Sepsis	Associate	31484735, 35720398, 37261353
Severe Acute Respiratory Syndrome	Stimulate	35911709
Short Stature Idiopathic Autosomal	Associate	29443755
Skin Diseases	Associate	12507903, 26061397, 34669971
Spinal Cord Injuries	Associate	35802304
Squamous Cell Carcinoma of Head and Neck	Stimulate	26514486, 32092078
ST Elevation Myocardial Infarction	Associate	34227921
ST Elevation Myocardial Infarction	Stimulate	34237174
Status Asthmaticus	Associate	30381539
Stomach Neoplasms	Stimulate	24741632
Stomach Neoplasms	Associate	32415175
Stroke	Associate	26515089
Subarachnoid Hemorrhage	Associate	34542421
Triple Negative Breast Neoplasms	Associate	40613791
Tuberculosis	Associate	33763081
Tuberculosis	Stimulate	35092727

ARG1 (arginase 1)