Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
6.3.4.-
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
6.3.4.10
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
biotin—[propionyl-CoA-carboxylase (ATP-hydrolysing)] ligase
6.3.4.11
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
biotin—[methylcrotonoyl-CoA-carboxylase] ligase
6.3.4.15
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
biotin—[biotin carboxyl-carrier protein] ligase
6.3.4.9
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
biotin—[methylmalonyl-CoA-carboxytransferase] ligase
PDB | Resolution (Å) | PDB name |
---|
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006768 | biotin metabolic process |
Biological Process | GO:0043687 | post-translational protein modification |
Biological Process | GO:0070781 | response to biotin |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0009374 | biotin binding |
Molecular Function | GO:0004077 | biotin-acetyl-CoA-carboxylase ligase activity |
Molecular Function | GO:0004078 | biotin-methylcrotonoyl-CoA-carboxylase ligase activity |
Molecular Function | GO:0004079 | biotin-methylmalonyl-CoA-carboxytransferase ligase activity |
Molecular Function | GO:0004080 | biotin-propionyl-CoA-carboxylase (ATP-hydrolyzing) ligase activity |
Molecular Function | GO:0018271 | biotin-protein ligase activity |
Molecular Function | GO:0019899 | enzyme binding |
Molecular Function | GO:0042802 | identical protein binding |
Cellular Component | GO:0000785 | chromatin |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0005739 | mitochondrion |
Cellular Component | GO:0005652 | nuclear lamina |
Cellular Component | GO:0016363 | nuclear matrix |
InterPro | InterPro name |
---|---|
IPR003142 | Biotin protein ligase, C-terminal |
IPR004143 | Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain |
IPR004408 | Biotin--acetyl-CoA-carboxylase ligase |
IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
Pfam | Pfam name |
---|---|
PF02237 | Biotin protein ligase C terminal domain |
PF03099 | Biotin/lipoate A/B protein ligase family |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-196780 | Biotin transport and metabolism | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-3371599 | Defective HLCS causes multiple carboxylase deficiency | Leaf | R-HSA-1643685 | Disease |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm | ECO:0000305 | PubMed:7842009 |
Mitochondrion | ECO:0000305 | PubMed:7842009 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000737 | Irritability |
HP:0000964 | Eczema |
HP:0000988 | Skin rash |
HP:0001096 | Keratoconjunctivitis |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001259 | Coma |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
HP:0001290 | Generalized hypotonia |
HP:0001510 | Growth delay |
HP:0001596 | Alopecia |
HP:0001824 | Weight loss |
HP:0001873 | Thrombocytopenia |
HP:0001942 | Metabolic acidosis |
HP:0001987 | Hyperammonemia |
HP:0001992 | Organic aciduria |
HP:0002013 | Vomiting |
HP:0002017 | Nausea and vomiting |
HP:0002039 | Anorexia |
HP:0002098 | Respiratory distress |
HP:0002789 | Tachypnea |
HP:0002883 | Hyperventilation |
HP:0003128 | Lactic acidosis |
HP:0003623 | Neonatal onset |
HP:0007549 | Desquamation of skin soon after birth |
HP:0008872 | Feeding difficulties in infancy |
HP:0011127 | Perioral eczema |
HP:0033111 | 3-hydroxyisovaleric aciduria |
HP:0033596 | Elevated urinary 3-methylcrotonylglycine level |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
holocarboxylase synthetase deficiency | MONDO:0009666 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:253270 | Orphanet:79242 |
holocarboxylase synthetase deficiency | MONDO:0009666 | E53 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:253270 | Orphanet:79242 |