Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.16.1.6
Oxidoreductases;
Oxidizing metal ions;
With NAD+ or NADP+ as acceptor;
cyanocobalamin reductase
2.5.1.151
Transferases;
Transferring alkyl or aryl groups, other than methyl groups;
Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date);
alkylcobalamin dealkylase
PDB | Resolution (Å) | PDB name |
---|---|---|
3SBY | 2.71 | Crystal Structure of SeMet-Substituted Apo-MMACHC (1-244), a human B12 processing enzyme |
3SBZ | 2.0 | Crystal Structure of Apo-MMACHC (1-244), a human B12 processing enzyme |
3SC0 | 1.95 | Crystal Structure of MMACHC (1-238), a human B12 processing enzyme, complexed with MethylCobalamin |
3SOM | 2.4 | crystal structure of human MMACHC |
5UOS | 2.51 | Crystal Structure of CblC (MMACHC) (1-238), a human B12 processing enzyme, complexed with an Antivitamin B12 |
7WUZ | 1.93 | Structural study of the complex of cblC methylmalonic aciduria and homocysteinuria-related protein MMACHC with cyanocobalamin |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0009235 | cobalamin metabolic process |
Biological Process | GO:0070988 | demethylation |
Biological Process | GO:0006749 | glutathione metabolic process |
Molecular Function | GO:0071949 | FAD binding |
Molecular Function | GO:0031419 | cobalamin binding |
Molecular Function | GO:0033787 | cyanocobalamin reductase (cyanide-eliminating) activity |
Molecular Function | GO:0032451 | demethylase activity |
Molecular Function | GO:0043295 | glutathione binding |
Molecular Function | GO:0016491 | oxidoreductase activity |
Molecular Function | GO:0042803 | protein homodimerization activity |
Molecular Function | GO:0016740 | transferase activity |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-3359473 | Defective MMADHC causes MMAHCD | Leaf | R-HSA-1643685 | Disease |
R-HSA-3359474 | Defective MMACHC causes MAHCC | Leaf | R-HSA-1643685 | Disease |
R-HSA-9759218 | Cobalamin (Cbl) metabolism | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm, cytosol | ECO:0000269 | PubMed:23270877 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000093 | Proteinuria |
HP:0000112 | Nephropathy |
HP:0000206 | Glossitis |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000276 | Long face |
HP:0000319 | Smooth philtrum |
HP:0000348 | High forehead |
HP:0000369 | Low-set ears |
HP:0000400 | Macrotia |
HP:0000505 | Visual impairment |
HP:0000546 | Retinal degeneration |
HP:0000580 | Pigmentary retinopathy |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000707 | Abnormality of the nervous system |
HP:0000708 | Atypical behavior |
HP:0000709 | Psychosis |
HP:0000726 | Dementia |
HP:0000751 | Personality changes |
HP:0000790 | Hematuria |
HP:0000952 | Jaundice |
HP:0001116 | Macular coloboma |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001263 | Global developmental delay |
HP:0001268 | Mental deterioration |
HP:0001289 | Confusion |
HP:0001290 | Generalized hypotonia |
HP:0001297 | Stroke |
HP:0001298 | Encephalopathy |
HP:0001337 | Tremor |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001511 | Intrauterine growth retardation |
HP:0001627 | Abnormal heart morphology |
HP:0001644 | Dilated cardiomyopathy |
HP:0001789 | Hydrops fetalis |
HP:0001873 | Thrombocytopenia |
HP:0001875 | Neutropenia |
HP:0001889 | Megaloblastic anemia |
HP:0001907 | Thromboembolism |
HP:0001942 | Metabolic acidosis |
HP:0001943 | Hypoglycemia |
HP:0001944 | Dehydration |
HP:0001987 | Hyperammonemia |
HP:0001999 | Abnormal facial shape |
HP:0002045 | Hypothermia |
HP:0002059 | Cerebral atrophy |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0002092 | Pulmonary arterial hypertension |
HP:0002098 | Respiratory distress |
HP:0002120 | Cerebral cortical atrophy |
HP:0002156 | Homocystinuria |
HP:0002160 | Hyperhomocystinemia |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002204 | Pulmonary embolism |
HP:0002352 | Leukoencephalopathy |
HP:0002354 | Memory impairment |
HP:0002376 | Developmental regression |
HP:0002625 | Deep venous thrombosis |
HP:0002912 | Methylmalonic acidemia |
HP:0002919 | Ketonuria |
HP:0003145 | Decreased adenosylcobalamin |
HP:0003153 | Cystathioninuria |
HP:0003210 | Decreased methylmalonyl-CoA mutase activity |
HP:0003223 | Decreased methylcobalamin |
HP:0003286 | Cystathioninemia |
HP:0003524 | Decreased methionine synthase activity |
HP:0003593 | Infantile onset |
HP:0003658 | Hypomethioninemia |
HP:0005575 | Hemolytic-uremic syndrome |
HP:0006827 | Atrophy of the spinal cord |
HP:0007010 | Poor fine motor coordination |
HP:0007258 | Severe demyelination of the white matter |
HP:0007663 | Reduced visual acuity |
HP:0008002 | Abnormality of macular pigmentation |
HP:0008765 | Auditory hallucinations |
HP:0008872 | Feeding difficulties in infancy |
HP:0010280 | Stomatitis |
HP:0011096 | Peripheral demyelination |
HP:0011968 | Feeding difficulties |
HP:0012120 | Methylmalonic aciduria |
HP:0012443 | Abnormality of brain morphology |
HP:0012469 | Infantile spasms |
HP:0012758 | Neurodevelopmental delay |
HP:0030891 | Periventricular white matter hyperintensities |
HP:0031258 | Delirium |
HP:0031544 | Elevated circulating palmitoleylcarnitine concentration |
HP:0040126 | Abnormal vitamin B12 level |
HP:0100309 | Subdural hemorrhage |
HP:0100820 | Glomerulopathy |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
benign concentric annular macular dystrophy | MONDO:0007934 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:153870 | Orphanet:251287 |
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | MONDO:0009612 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:251000 | Orphanet:27 |
methylmalonic aciduria and homocystinuria type cblc | MONDO:0010184 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:277400 | Orphanet:79282 |