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Details on Person UniProt:P22314 UBA1
| Class:Id | ReferenceGeneProduct:66719 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Sat February 7 2015;chain:2-1058 added on Sat February 7 2015;initiator methionine: for 66719 added on Sun February 16 2020;initiator methionine:1 for 66719 removed on Fri Nov 03 2023;initiator methionine: for 66719 removed on Fri Aug 15 2025;initiator methionine: for 66719 removed on Fri Aug 15 2025;initiator methionine:1 for 66719 added on Fri Aug 15 2025;initiator methionine:1 for 66719 added on Fri Aug 15 2025 |
| _displayName | UniProt:P22314 UBA1 |
| _timestamp | 2025-08-15 21:50:08 |
| chain | initiator methionine:1 chain:2-1058 initiator methionine:1 |
| checksum | 4B413AAA75FAA562 |
| comment | FUNCTION Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1447181, PubMed:1606621, PubMed:33108101). Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).CATALYTIC ACTIVITY ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine.PATHWAY Protein modification; protein ubiquitination.SUBUNIT Monomer (By similarity). Interacts with GAN (via BTB domain).INTERACTION Detected in erythrocytes (at protein level). Ubiquitous.DOMAIN The first 11 amino acids are essential for phosphorylation and exclusive nuclear localization.PTM ISGylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. Somatic variants affecting the initiator methionine of isoform 2 are recurrently found in VEXAS patients. These variants cause loss of isoform 2 and production of a shorter isoform with strongly reduced enzymatic activity from a downstream methionine (Met-67).MISCELLANEOUS There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site.SIMILARITY Belongs to the ubiquitin-activating E1 family. |
| description | recommendedName: Ubiquitin-like modifier-activating enzyme 1 ecNumber evidence="19"6.2.1.45 alternativeName: Protein A1S9 alternativeName: Ubiquitin-activating enzyme E1 |
| geneName | UBA1 A1S9T UBE1 |
| identifier | P22314 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative initiation ATP-binding Cytoplasm Direct protein sequencing Disease variant Ligase Mitochondrion Neurodegeneration Nucleotide-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Ubl conjugation Ubl conjugation pathway |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | UBA1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8958633] ENSEMBL:ENSG00000130985 UBA1 [Homo sapiens] |
| secondaryIdentifier | UBA1_HUMAN Q5JRR8 Q96E13 |
| sequenceLength | 1058 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8976316] UniProt:P22314-1 UBA1 [Homo sapiens] [ReferenceIsoform:8976317] UniProt:P22314-2 UBA1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:947698] UBA1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:8852116] UBA1 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:8957945] UBA1 [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P22314 UBA1 (66719)
