ARG1 (arginase 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
383
Gene name Gene Name - the full gene name approved by the HGNC.
Arginase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARG1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 Microarray, qRT-PCR 31611205
MIRT734342 hsa-miR-34a-5p Microarray, qRT-PCR 31611205
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
AR Activation 20711410
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(54)
GO ID Ontology Definition Evidence Reference
GO:0000050 Process Urea cycle IEA
GO:0000050 Process Urea cycle TAS
GO:0001889 Process Liver development IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IEA
GO:0002250 Process Adaptive immune response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608313 663 ENSG00000118520
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 322
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Arginine biosynthesis
Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids
Efferocytosis
Amoebiasis 		  Neutrophil degranulation
Urea cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes Diabetes rs80356611 31451708
Diabetes mellitus Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 31451708, 30054458
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 19800904, 19281908 ClinVar
Kidney Disease Kidney Disease GWAS
Show/Hide Text Mining Associations (120)
Associations from Text Mining
Disease Name Relationship Type References
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