Showing entry for Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019732
Protein NameMethylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
Uniport IdQ96RQ3
GeneMCCC1
Gene Id56922
DomainBiotin_carb_C; Biotin_carb_N; Biotin_lipoyl; CPSase_L_D2
Pfam PF02785   PF00289   PF00364   PF02786  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00280 Valine, leucine and isoleucine degradation
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:0009083 branched-chain amino acid catabolic process
Biological Process GO:0006552 leucine catabolic process
molecular function GO:0005524 ATP binding
molecular function GO:0009374 biotin binding
molecular function GO:0004075 biotin carboxylase activity
molecular function GO:0016421 CoA carboxylase activity
molecular function GO:0046872 metal ion binding
molecular function GO:0004485 methylcrotonoyl-CoA carboxylase activity
cellular component GO:0002169 3-methylcrotonyl-CoA carboxylase complex, mitochondrial
cellular component GO:0005829 cytosol
cellular component GO:1905202 methylcrotonoyl-CoA carboxylase complex
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
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
R-HSA-70895 Branched-chain amino acid catabolism
R-HSA-71291 Metabolism of amino acids and derivatives
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0009421 BXGD000608 Comatose Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0019193 BXGD001299 Hepatitis, Toxic Digestive System Diseases; Chemically-Induced Disorders
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0024535 BXGD001785 Malaria, Falciparum Infections
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0151818 BXGD003480 Opisthotonus Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162275 BXGD003924 Ketonuria Nutritional and Metabolic Diseases
C0220994 BXGD004357 Hyperammonemia Pathological Conditions, Signs and Symptoms
C0241775 BXGD005113 Organic aciduria
C0268600 BXGD006001 3-methylcrotonyl CoA carboxylase 1 deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0424230 BXGD008522 Motor retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0860207 BXGD011220 Drug-Induced Liver Disease Digestive System Diseases; Chemically-Induced Disorders
C1262760 BXGD011886 Hepatitis, Drug-Induced Digestive System Diseases; Chemically-Induced Disorders
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859506 BXGD015904 Acute hyperammonemia Pathological Conditions, Signs and Symptoms
C1859516 BXGD015905 Episodic metabolic acidosis Nutritional and Metabolic Diseases
C1867873 BXGD016473 Failure to thrive in infancy
C2674608 BXGD017250 Feeding difficulties in infancy
C2747816 BXGD017577 Complicated malaria Infections
C3539168 BXGD019085 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
C3658290 BXGD019256 Drug-Induced Acute Liver Injury Digestive System Diseases; Chemically-Induced Disorders
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4022001 BXGD020863 Abnormality of the cerebral vasculature
C4025020 BXGD021527 Acute hepatic steatosis Digestive System Diseases
C4277682 BXGD022376 Chemical and Drug Induced Liver Injury Digestive System Diseases; Chemically-Induced Disorders
C4279912 BXGD022378 Chemically-Induced Liver Toxicity Digestive System Diseases; Chemically-Induced Disorders
C4511452 BXGD023002 Sporadic Parkinson disease Nervous System Diseases
C4551505 BXGD023325 Methylcrotonyl-CoA carboxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C4553743 BXGD023548 Spasticity, 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