Showing entry for Methylmalonyl-CoA mutase, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008721
Protein NameMethylmalonyl-CoA mutase, mitochondrial
Uniport IdP22033
GeneMMUT
Gene Id4594
DomainB12-binding; MM_CoA_mutase
Pfam PF02310   PF01642  
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 1.1 Carbohydrate metabolism hsa00630 Glyoxylate and dicarboxylate metabolism
1. Metabolism 1.1 Carbohydrate metabolism hsa00640 Propanoate metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
1. Metabolism 1.0 Global and overview maps hsa01200 Carbon metabolism
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009235 cobalamin metabolic process
Biological Process GO:0050667 homocysteine metabolic process
Biological Process GO:0043547 positive regulation of GTPase activity
Biological Process GO:0009791 post-embryonic development
Biological Process GO:0019626 short-chain fatty acid catabolic process
molecular function GO:0031419 cobalamin binding
molecular function GO:0003924 GTPase activity
molecular function GO:0042802 identical protein binding
molecular function GO:0046872 metal ion binding
molecular function GO:0004494 methylmalonyl-CoA mutase activity
molecular function GO:0072341 modified amino acid binding
molecular function GO:0042803 protein homodimerization activity
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-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-3296469 Defects in cobalamin (B12) metabolism
R-HSA-3296482 Defects in vitamin and cofactor metabolism
R-HSA-3359475 Defective MMAA causes methylmalonic aciduria type cblA
R-HSA-3359478 Defective MUT causes methylmalonic aciduria mut type
R-HSA-556833 Metabolism of lipids
R-HSA-5668914 Diseases of metabolism
R-HSA-71032 Propionyl-CoA catabolism
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-8978868 Fatty acid metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000737 BXGD000005 Abdominal Pain Pathological Conditions, Signs and Symptoms
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0006079 BXGD000365 Bowen's Disease Neoplasms
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007138 BXGD000446 Carcinoma, Transitional Cell Neoplasms
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007867 BXGD000497 Cervix Diseases Female Urogenital Diseases and Pregnancy Complications
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009421 BXGD000608 Comatose Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009946 BXGD000638 Conversion disorder Mental Disorders
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0012546 BXGD000776 Diphtheria Infections
C0013338 BXGD000816 Pituitary dwarfism Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0017638 BXGD001132 Glioma Neoplasms
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019880 BXGD001351 Homocystinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0021051 BXGD001475 Immunologic Deficiency Syndromes Immune System Diseases
C0021400 BXGD001504 Influenza Infections; Respiratory Tract Diseases
C0022602 BXGD001564 Actinic keratosis Neoplasms; Skin and Connective Tissue Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0024523 BXGD001781 Malabsorption Syndrome Digestive System Diseases; Nutritional and Metabolic Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025221 BXGD001837 Meleda Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0025286 BXGD001850 Meningioma Neoplasms; Nervous System Diseases
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0028945 BXGD002099 oligodendroglioma Neoplasms
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030305 BXGD002206 Pancreatitis Digestive System Diseases
C0030312 BXGD002207 Pancytopenia Hemic and Lymphatic Diseases
C0032371 BXGD002353 Poliomyelitis Infections; Nervous System Diseases
C0033626 BXGD002412 Protein Deficiency Nutritional and Metabolic Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0039075 BXGD002788 Syndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0041349 BXGD002920 Nephritis, Tubulointerstitial Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151747 BXGD003471 Renal tubular disorder Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0178874 BXGD004037 Tumor Progression Pathological Conditions, Signs and Symptoms
C0202252 BXGD004089 VITAMIN B12 MEASUREMENT
C0206708 BXGD004256 Cervical Intraepithelial Neoplasia Neoplasms
C0220994 BXGD004357 Hyperammonemia Pathological Conditions, Signs and Symptoms
C0232466 BXGD004543 Feeding difficulties
C0238461 BXGD004936 Anaplastic thyroid carcinoma Neoplasms
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0243026 BXGD005210 Sepsis Pathological Conditions, Signs and Symptoms; Infections
C0262401 BXGD005235 Carcinoma of ampulla of Vater Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0268559 BXGD005984 Hyperglycinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268579 BXGD005995 Propionic acidemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268583 BXGD005997 Methylmalonic acidemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0276096 BXGD006401 Mastitis-metritis-agalactia syndrome Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
C0276496 BXGD006426 Familial Alzheimer Disease (FAD) Nervous System Diseases; Mental Disorders
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0280324 BXGD006740 Laryngeal Squamous Cell Carcinoma Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0333307 BXGD006946 Superficial ulcer Pathological Conditions, Signs and Symptoms
C0342701 BXGD007529 Transcobalamin II deficiency
C0346210 BXGD007802 Vulval intraepithelial neoplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0348484 BXGD007874 Other disorders of branched-chain amino-acid metabolism Nutritional and Metabolic Diseases
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0456070 BXGD008863 Growth delay
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0494165 BXGD009022 Secondary malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0686619 BXGD009835 Secondary malignant neoplasm of lymph node Pathological Conditions, Signs and Symptoms; Neoplasms
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0751396 BXGD010425 Well Differentiated Oligodendroglioma Neoplasms
C0850666 BXGD010901 Infection caused by Helicobacter pylori Infections
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0948008 BXGD011499 Ischemic stroke Nervous System Diseases; Cardiovascular Diseases
C0948201 BXGD011515 Alloimmunisation
C0949857 BXGD011589 Mitochondrial Respiratory Chain Deficiencies Nutritional and Metabolic Diseases
C1263739 BXGD011894 Disorder of organic acid metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1266025 BXGD011935 Traditional Serrated Adenoma Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1332271 BXGD012519 Perianal Squamous Intraepithelial Neoplasia
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1335302 BXGD012775 Pancreatic Ductal Adenocarcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1832661 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
C1854704 BXGD015426 Metabolic Ketosis Nutritional and Metabolic Diseases
C1855114 BXGD015460 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855115 BXGD015461 Methylmalonic Aciduria, mut(0) Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855116 BXGD015462 Methylmalonic Aciduria, mut(-) Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855119 BXGD015463 Methylmalonic aciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1865285 BXGD016304 Megalencephaly cutis marmorata telangiectatica congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C2145472 BXGD016931 Urothelial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2316810 BXGD017030 Chronic kidney disease stage 5 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2931536 BXGD018035 Methylmalonyl-Coenzyme A mutase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2939419 BXGD018178 Secondary Neoplasm Pathological Conditions, Signs and Symptoms; Neoplasms
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887524 BXGD019892 Skin Erosion Skin and Connective Tissue Diseases
C4021758 BXGD020761 Delayed CNS myelination
C4025706 BXGD021745 Abnormal globus pallidus morphology
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4049005 BXGD021911 Cataract, total congenital with posterior sutural opacities in Heterozygotes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
C4732730 BXGD023895 Blood spots
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
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