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Details on Person UniProt:P50747 HLCS
| Class:Id | ReferenceGeneProduct:50938 |
|---|---|
| _chainChangeLog | chain:1-726 added on Sat February 7 2015 |
| _displayName | UniProt:P50747 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. |
| 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 |
| 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 |
| (isoformParent) | [ReferenceIsoform:9773289] UniProt:P50747-1 HLCS [Homo sapiens] [ReferenceIsoform:9773290] UniProt:P50747-2 HLCS [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2993800] HLCS [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:2993867] HLCS [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325442] HLCS R508W [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325460] HLCS V550M [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325463] HLCS G261Vfs*20 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325499] HLCS D571N [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325506] HLCS G581S [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325513] HLCS L216R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:3325514] HLCS L237P [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:3325443] L-leucine 263 replaced with L-cysteine [ReplacedResidue:3325444] glycine 581 replaced with L-serine [ReplacedResidue:3325448] L-histidine 264 replaced with L-threonine [ReplacedResidue:3325451] L-leucine 270 replaced with L-tryptophan [ReplacedResidue:3325454] L-valine 271 replaced with L-phenylalanine [ReplacedResidue:3325461] L-aspartic acid 276 replaced with L-threonine [ReplacedResidue:3325464] L-threonine 266 replaced with L-glutamine [ReplacedResidue:3325468] L-arginine 508 replaced with L-tryptophan [ReplacedResidue:3325471] L-lysine 265 replaced with L-arginine [ReplacedResidue:3325474] L-glutamic acid 279 replaced with L-arginine |
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No pathways have been reviewed or authored by UniProt:P50747 HLCS (50938)
