ARG1 (arginase 1)

Gene

• 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

SNPs

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

miRNA

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	Microarray, qRT-PCR	31611205
MIRT734342	hsa-miR-34a-5p	Microarray, qRT-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

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	20711410

Gene ontology (GO)

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

Other IDs

• MIM: 608313
• HGNC: 663
• e!Ensembl: ENSG00000118520

Protein

• UniProt ID: 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

Pathways

KEGG:

Arginine biosynthesis
Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids
Efferocytosis
Amoebiasis

Reactome:

Neutrophil degranulation
Urea cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ARG1-related disorder	Pathogenic; Likely pathogenic	rs1064794165, rs1169538148, rs753829097	RCV004751557 RCV003907934 RCV004751656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arginase deficiency	Likely pathogenic; Pathogenic	rs1773910245, rs149310631, rs2114551140, rs2114507395, rs755975244, rs796051923, rs2114539596, rs146625637, rs2114549176, rs2114551021, rs2114545947, rs112432420, rs113645893, rs1311659158, rs748744950, rs2114547911, rs2114546081, rs766868484, rs2114549604, rs1562361751, rs113767658, rs1562361762, rs1288156431, rs2114544574, rs2482379499, rs1773790103, rs2114519176, rs104893940, rs104893942, rs104893947, rs104893948, rs1562361837, rs28941474, rs587776539, rs104893944, rs2482351345, rs2482351208, rs2482351242, rs2482384542, rs2482370169, rs2482384178, rs2482369894, rs2482351701, rs2482351284, rs2482369454, rs1464239857, rs2482368035, rs2482368025, rs1773910389, rs2482351416, rs2482334738, rs1774044564, rs1337890012, rs2482384211, rs1774035827, rs2482351431, rs1773986769, rs2482369125, rs1774059448, rs2482351042, rs1774044680, rs2482352133, rs1774022406, rs2482352800, rs2482333956, rs2482368714, rs1774036379, rs2482383894, rs1478297270, rs2482386783, rs758905397, rs2482390987, rs2482369953, rs2482370138, rs1554250040, rs1773782306, rs2482368498, rs2482391576, rs1239789338, rs2482368322, rs2482379821, rs1064794165, rs755359126, rs1554251356, rs1554251158, rs771395982, rs1326930389, rs1169538148, rs753829097, rs776939220, rs1554251045, rs1399124034, rs1554251191, rs747579073, rs1554249332, rs767219084, rs866970619, rs377280518, rs1562356664, rs140549609, rs745624953, rs1585420294, rs1585429783, rs1441486160, rs1451472748, rs756080885, rs1773783170, rs1773906992, rs1773916575, rs1773915383, rs1773467460, rs897222563	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASBESTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDERS INVOLVING THE IMMUNE MECHANISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERARGININEMIA	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations