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Details on Person UniProt:P50747-2 HLCS
| Class:Id | ReferenceIsoform:9773290 |
|---|---|
| _chainChangeLog | chain:1-726 for 9773290 added on Wed May 4 2022 |
| _displayName | UniProt:P50747-2 HLCS |
| _timestamp | 2025-02-21 19:46:02 |
| chain | chain:1-726 |
| checksum | 855B8E52106D675F |
| comment | FUNCTION Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.CATALYTIC ACTIVITY apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + biotin + ATP = holo-[methylmalonyl-CoA:pyruvate carboxytransferase] + AMP + diphosphate + H(+)CATALYTIC ACTIVITY apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + biotin + ATP = holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + AMP + diphosphate + H(+)CATALYTIC ACTIVITY apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + biotin + ATP = holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + AMP + diphosphate + H(+)CATALYTIC ACTIVITY biotin + L-lysyl-[protein] + ATP = N(6)-biotinyl-L-lysyl-[protein] + AMP + diphosphate + H(+)BIOPHYSICOCHEMICAL PROPERTIES Monomer.INTERACTION Widely expressed (PubMed:7753853, PubMed:7842009). Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung (PubMed:7842009).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the biotin--protein ligase family. |
| created | [InstanceEdit:9773244] Weiser, Joel |
| description | recommendedName: Biotin--protein ligase ecNumber evidence="19"6.3.4.- alternativeName: Biotin apo-protein ligase domain recommendedName: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase ecNumber evidence="19"6.3.4.9 /domain domain recommendedName: Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase ecNumber evidence="13"6.3.4.10 alternativeName: Holocarboxylase synthetase shortName: HCS /domain domain recommendedName: Biotin--[methylcrotonoyl-CoA-carboxylase] ligase ecNumber evidence="19"6.3.4.11 /domain domain recommendedName: Biotin--[acetyl-CoA-carboxylase] ligase ecNumber evidence="19"6.3.4.15 /domain |
| geneName | HLCS |
| identifier | P50747 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing ATP-binding Cytoplasm Disease variant Ligase Mitochondrion Multifunctional enzyme Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome |
| 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:9939033] Weiser, Joel, 2025-02-21 |
| name | HLCS |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989399] ENSEMBL:ENSG00000159267 HLCS [Homo sapiens] |
| secondaryIdentifier | BPL1_HUMAN B2RAH1 D3DSG6 Q99451 |
| sequenceLength | 726 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P50747-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P50747-2 HLCS (9773290)
