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Details on Person UniProt:P05089 ARG1

Class:IdReferenceGeneProduct:50257
_chainChangeLogchain:1-322 added on Fri February 6 2015
_displayNameUniProt:P05089 ARG1
_timestamp2025-02-21 19:25:17
chainchain:1-322
checksum8F3BE2652243F622
commentFUNCTION 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, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.FUNCTION Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure.CATALYTIC ACTIVITY L-arginine + H2O = urea + L-ornithineCOFACTOR Binds 2 manganese ions per subunit.PATHWAY Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.SUBUNIT Homotrimer (PubMed:16141327, PubMed:17469833, PubMed:17562323, PubMed:18802628, PubMed:2241902). Interacts with CMTM6 (PubMed:28813417).SUBCELLULAR LOCATION Localized in azurophil granules of neutrophils (PubMed:15546957).ALTERNATIVE PRODUCTS 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 group2 innate lymphoid cells (ILC2s) during lung disease (PubMed:27043409).INDUCTION By arginine or homoarginine.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS May be due to a competing acceptor splice site.SIMILARITY Belongs to the arginase family.ONLINE INFORMATION Arginase entry
descriptionrecommendedName: Arginase-1 ecNumber evidence="8 11 14"3.5.3.1 alternativeName: Liver-type arginase alternativeName: Type I arginase
geneNameARG1
identifierP05089
isSequenceChangedFALSE
keyword3D-structure
Adaptive immunity
Alternative splicing
Arginine metabolism
Cytoplasm
Disease variant
Hydrolase
Immunity
Innate immunity
Manganese
Metal-binding
Phosphoprotein
Proteomics identification
Reference proteome
Urea cycle
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameARG1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9002202] ENSEMBL:ENSG00000118520 ARG1 [Homo sapiens]
secondaryIdentifierARGI1_HUMAN
A6NEA0
Q5JWT5
Q5JWT6
Q8TE72
Q9BS50
sequenceLength322
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:144148] UniProt:P05089-2 ARG1 [Homo sapiens]
[ReferenceIsoform:144149] UniProt:P05089-3 ARG1 [Homo sapiens]
[ReferenceIsoform:402430] UniProt:P05089-1 ARG1 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:70561] ARG1 [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:6798764] ARG1 [azurophil granule lumen] [Homo sapiens]
[EntityWithAccessionedSequence:6801011] ARG1 [specific granule lumen] [Homo sapiens]
[EntityWithAccessionedSequence:6806221] ARG1 [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9959598] ARG1 A125V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959601] ARG1 G138V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959604] ARG1 G235R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959606] ARG1 G27D [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959609] ARG1 G74V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959613] ARG1 I11T [cytosol] [Homo sapiens]
List all 17 refering instances
(referenceSequence)[ReplacedResidue:9959496] glycine 138 replaced with L-valine
[ReplacedResidue:9959498] glycine 235 replaced with L-arginine
[ReplacedResidue:9959500] glycine 27 replaced with L-aspartic acid
[ReplacedResidue:9959503] glycine 74 replaced with L-valine
[NonsenseMutation:9959512] Nonsense mutation at L-tryptophan 122
[NonsenseMutation:9959513] Nonsense mutation at L-arginine 291
[NonsenseMutation:9959515] Nonsense mutation at L-arginine 21
[ReplacedResidue:9959534] L-threonine 290 replaced with L-serine
[ReplacedResidue:9959535] L-threonine 134 replaced with L-isoleucine
[ReplacedResidue:9959537] L-isoleucine 11 replaced with L-threonine
List all 13 refering instances
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No pathways have been reviewed or authored by UniProt:P05089 ARG1 (50257)