Showing entry for Biotin--protein ligase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT010817
Protein NameBiotin--protein ligase
Uniport IdP50747
GeneHLCS
Gene Id3141
DomainBPL_C; BPL_LplA_LipB; BPL_N
Pfam PF02237   PF03099   PF09825  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.8 Metabolism of cofactors and vitamins hsa00780 Biotin metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006768 biotin metabolic process
Biological Process GO:0071110 histone biotinylation
Biological Process GO:0016570 histone modification
Biological Process GO:0009305 protein biotinylation
Biological Process GO:0070781 response to biotin
molecular function GO:0005524 ATP binding
molecular function GO:0009374 biotin binding
molecular function GO:0018271 biotin-protein ligase activity
molecular function GO:0019899 enzyme 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
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
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-196780 Biotin transport and metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-3296482 Defects in vitamin and cofactor metabolism
R-HSA-3323169 Defects in biotin (Btn) metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-5668914 Diseases of metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0002965 BXGD000162 Angina, Unstable Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0007766 BXGD000478 Intracranial Aneurysm Nervous System Diseases; Cardiovascular Diseases
C0007965 BXGD000508 Chediak-Higashi Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
C0008479 BXGD000544 Chondrosarcoma Neoplasms
C0008497 BXGD000549 Choriocarcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0009421 BXGD000608 Comatose Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0010691 BXGD000685 Cystinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0014772 BXGD000948 Red Blood Cell Count measurement
C0015230 BXGD000969 Exanthema Skin and Connective Tissue Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0018671 BXGD001211 Head and Neck Neoplasms Neoplasms
C0020578 BXGD001434 Hyperventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0022107 BXGD001530 Irritable Mood Behavior and Behavior Mechanisms
C0022573 BXGD001554 Keratoconjunctivitis Eye Diseases
C0022638 BXGD001567 Ketosis Nutritional and Metabolic Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0026755 BXGD001926 Multiple Carboxylase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037284 BXGD002679 Skin lesion Skin and Connective Tissue Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0153690 BXGD003684 Secondary malignant neoplasm of bone Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases
C0220754 BXGD004337 Biotinidase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0220981 BXGD004348 Metabolic acidosis Nutritional and Metabolic Diseases
C0220994 BXGD004357 Hyperammonemia Pathological Conditions, Signs and Symptoms
C0231835 BXGD004527 Tachypnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0241775 BXGD005113 Organic aciduria
C0268581 BXGD005996 Holocarboxylase Synthetase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268680 BXGD006026 Biotin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0270971 BXGD006146 Floppy infant syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0454651 BXGD008851 Specific language impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0456070 BXGD008863 Growth delay
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0557874 BXGD009444 Global developmental delay
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0878787 BXGD011392 Growth failure
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1269955 BXGD012005 Tumor Cell Invasion
C1396126 BXGD012992 Perioral eczema Skin and Connective Tissue Diseases
C1636149 BXGD013482 Macular dystrophy, corneal type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1833213 BXGD013900 Hyperferritinemia, hereditary, with congenital cataracts Nutritional and Metabolic Diseases; Eye Diseases
C1839436 BXGD014373 Severe lactic acidosis Nutritional and Metabolic Diseases
C1842714 BXGD014535 Desquamation of skin soon after birth
C1848030 BXGD014902 Hypotonia-Cystinuria Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1860787 BXGD015997 DOWN SYNDROME CRITICAL REGION Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2700617 BXGD017474 Irritation - emotion Behavior and Behavior Mechanisms
C2937225 BXGD018157 Biotin deficiency disease Nutritional and Metabolic Diseases
C3714796 BXGD019434 Isolated somatotropin deficiency
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4524092 BXGD023092 Chronic rhinosinusitis with nasal polyps
C4552810 BXGD023525 Irritability, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0026123 Biotin 244.09
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein