Gene/Proteome Database (LMPD)
LMPD ID
LMP001519
Gene ID
Species
Homo sapiens (Human)
Gene Name
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Gene Symbol
Synonyms
HCS
Alternate Names
biotin--protein ligase; biotin apo-protein ligase; biotin--[acetyl-CoA-carboxylase] ligase; biotin--[methylcrotonoyl-CoA-carboxylase] ligase; biotin--[methylmalonyl-CoA-carboxytransferase] ligase; holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
Chromosome
21
Map Location
21q22.13
EC Number
6.3.4.-
Summary
This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Orthologs
Proteins
| biotin--protein ligase | |
|---|---|
| Refseq ID | NP_001229713 |
| Protein GI | 338753397 |
| UniProt ID | P50747 |
| mRNA ID | NM_001242784 |
| Length | 726 |
| RefSeq Status | REVIEWED |
| MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHVGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQGGKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSPGRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLRFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPFVQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGCGFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVLPLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNLILPKRR | |
| biotin--protein ligase | |
|---|---|
| Refseq ID | NP_000402 |
| Protein GI | 46255045 |
| UniProt ID | P50747 |
| mRNA ID | NM_000411 |
| Length | 726 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:338753397 (mRNA isoform) | |
| biotin--protein ligase | |
|---|---|
| Refseq ID | NP_001229714 |
| Protein GI | 338753400 |
| UniProt ID | P50747 |
| mRNA ID | NM_001242785 |
| Length | 726 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:338753397 (mRNA isoform) | |
Gene Information
Entrez Gene ID
Gene Name
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0000785 | IDA:UniProtKB | C | chromatin |
| GO:0005737 | IDA:HPA | C | cytoplasm |
| GO:0005829 | IDA:UniProtKB | C | cytosol |
| GO:0005739 | IEA:UniProtKB-KW | C | mitochondrion |
| GO:0005652 | IDA:UniProtKB | C | nuclear lamina |
| GO:0016363 | IDA:UniProtKB | C | nuclear matrix |
| GO:0005524 | IEA:UniProtKB-KW | F | ATP binding |
| GO:0009374 | IDA:UniProtKB | F | biotin binding |
| GO:0004077 | IEA:UniProtKB-EC | F | biotin-[acetyl-CoA-carboxylase] ligase activity |
| GO:0004078 | IEA:UniProtKB-EC | F | biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity |
| GO:0004079 | IEA:UniProtKB-EC | F | biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity |
| GO:0004080 | IDA:UniProtKB | F | biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity |
| GO:0018271 | IDA:UniProtKB | F | biotin-protein ligase activity |
| GO:0019899 | IPI:UniProtKB | F | enzyme binding |
| GO:0006768 | TAS:Reactome | P | biotin metabolic process |
| GO:0008283 | IMP:UniProtKB | P | cell proliferation |
| GO:0071110 | IDA:UniProtKB | P | histone biotinylation |
| GO:0016570 | IDA:UniProtKB | P | histone modification |
| GO:0009305 | IDA:UniProtKB | P | protein biotinylation |
| GO:0070781 | IDA:UniProtKB | P | response to biotin |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006766 | TAS:Reactome | P | vitamin metabolic process |
| GO:0006767 | TAS:Reactome | P | water-soluble vitamin metabolic process |
KEGG Pathway Links
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY0-1264 | biotin-carboxyl carrier protein assembly |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_11153 | Biotin transport and metabolism |
Domain Information
UniProt Annotations
Entry Information
Gene Name
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Protein Entry
BPL1_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Biophysicochemical Properties | Kinetic parameters: KM=224 nM for biotin ; Vmax=143.9 pmol/min/mg enzyme ; |
| Catalytic Activity | ATP + biotin + apo-[3-methylcrotonoyl- CoA |
| Catalytic Activity | ATP + biotin + apo-[acetyl-CoA |
| Catalytic Activity | ATP + biotin + apo-[methylmalonyl-CoA |
| Catalytic Activity | ATP + biotin + apo-[propionyl-CoA |
| Disease | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM |
| Function | Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl- CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase. |
| Interaction | O00763:ACACB; NbExp=4; IntAct=EBI-3915568, EBI-2211739; |
| Sequence Caution | Sequence=AK307940; Type=Frameshift; Positions=169; Evidence= ; |
| Similarity | Belongs to the biotin--protein ligase family. |
| Similarity | Contains 1 BPL/LPL catalytic domain. |
| Subcellular Location | Cytoplasm. Mitochondrion. |
| Subunit | Monomer. |
| Tissue Specificity | Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001519 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 338753397 | RefSeq | NP_001229713 | 726 | biotin--protein ligase |
Identical Sequences to LMP001519 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:338753397 | GenBank | AIC54557.1 | 726 | HLCS, partial [synthetic construct] |
| GI:338753397 | RefSeq | XP_005261012.1 | 726 | PREDICTED: biotin--protein ligase isoform X3 [Homo sapiens] |
| GI:338753397 | RefSeq | XP_005261013.1 | 726 | PREDICTED: biotin--protein ligase isoform X4 [Homo sapiens] |
| GI:338753397 | RefSeq | XP_006724057.1 | 726 | PREDICTED: biotin--protein ligase isoform X6 [Homo sapiens] |
| GI:338753397 | RefSeq | XP_006724058.1 | 726 | PREDICTED: biotin--protein ligase isoform X7 [Homo sapiens] |
| GI:338753397 | RefSeq | XP_006724059.1 | 726 | PREDICTED: biotin--protein ligase isoform X8 [Homo sapiens] |
Related Sequences to LMP001519 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:338753397 | DBBJ | BAA13332.1 | 726 | HCS [Homo sapiens] |
| GI:338753397 | DBBJ | BAG36868.1 | 726 | unnamed protein product [Homo sapiens] |
| GI:338753397 | GenBank | JAA14063.1 | 726 | holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) [Pan troglodytes] |
| GI:338753397 | GenBank | JAA26574.1 | 726 | holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) [Pan troglodytes] |
| GI:338753397 | RefSeq | XP_005261010.1 | 873 | PREDICTED: biotin--protein ligase isoform X1 [Homo sapiens] |
| GI:338753397 | RefSeq | XP_006724056.1 | 821 | PREDICTED: biotin--protein ligase isoform X5 [Homo sapiens] |