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Details on Person UniProt:P00966 ASS1
| Class:Id | ReferenceGeneProduct:50409 |
|---|---|
| _chainChangeLog | chain:1-412 added on Sat February 7 2015 |
| _displayName | UniProt:P00966 ASS1 |
| _timestamp | 2025-02-21 19:35:38 |
| chain | chain:1-412 |
| checksum | 47CAD2373AE47E47 |
| comment | FUNCTION One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.CATALYTIC ACTIVITY L-citrulline + L-aspartate + ATP = 2-(N(omega)-L-arginino)succinate + AMP + diphosphate + H(+)BIOPHYSICOCHEMICAL PROPERTIES Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 2/3.PATHWAY Nitrogen metabolism; urea cycle; (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline: step 1/1.SUBUNIT Homotetramer (PubMed:18323623). Interacts with NMRAL1 (PubMed:17496144). Interacts with CLOCK; in a circadian manner (PubMed:28985504). Forms tissue-specific complexes with ASL, SLC7A1, HSP90AA1 and nitric oxide synthase NOS1, NOS2 or NOS3; the complex regulates cell-autonomous L-arginine synthesis and citrulline recycling while channeling extracellular L-arginine to nitric oxide synthesis pathway.INTERACTION Expressed in adult liver.DEVELOPMENTAL STAGE Expressed in fetal liver and kidney.PTM Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the argininosuccinate synthase family. Type 1 subfamily.ONLINE INFORMATION Leiden Open Variation Database (LOVD) |
| description | recommendedName: fullName evidence="25"Argininosuccinate synthase ecNumber evidence="13 20 24"6.3.4.5 alternativeName: Citrulline--aspartate ligase |
| geneName | ASS1 ASS |
| identifier | P00966 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Amino-acid biosynthesis Arginine biosynthesis ATP-binding Cytoplasm Direct protein sequencing Disease variant Ligase Nucleotide-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 |
| name | ASS1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962371] ENSEMBL:ENSG00000130707 ASS1 [Homo sapiens] |
| secondaryIdentifier | ASSY_HUMAN Q6LDL2 Q86UZ0 Q96GT4 |
| sequenceLength | 412 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:70574] ASS1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959106] ASS1 S180I [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959107] ASS1 D124N [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959111] ASS1 W179R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959112] ASS1 T119I [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959116] ASS1 K310Q [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959122] ASS1 R272C [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959123] ASS1 E191Q [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959126] ASS1 V263M [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9959127] ASS1 G324S [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:9959076] L-arginine 157 replaced with L-cysteine [ReplacedResidue:9959077] L-arginine 304 replaced with L-tryptophan [ReplacedResidue:9959078] L-arginine 127 replaced with L-glutamine [ReplacedResidue:9959079] L-tryptophan 179 replaced with L-arginine [NonsenseMutation:9959080] Nonsense mutation at L-arginine 279 [ReplacedResidue:9959081] L-threonine 284 replaced with L-isoleucine [ReplacedResidue:9959082] L-glutamic acid 191 replaced with L-glutamine removal [ReplacedResidue:9959083] L-arginine 265 replaced with L-cysteine [ReplacedResidue:9959084] L-threonine 91 replaced with L-proline [ReplacedResidue:9959085] L-arginine 86 replaced with L-cysteine |
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No pathways have been reviewed or authored by UniProt:P00966 ASS1 (50409)
