| Identification |
|---|
| BMDB Protein ID
| BMDBP01983 |
| Secondary Accession Numbers
| None |
| Name
| Methylmalonic aciduria and homocystinuria type C protein homolog |
| Synonyms
|
Not Available
|
| Gene Name
| MMACHC |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in cobalamin binding |
| Specific Function
| Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate. Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin. Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen. Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives. |
| Pathways
|
- Adenosylcobalamin biosynthesis
- Cofactor biosynthesis
|
| Reactions
| Not Available |
| GO Classification
|
Not Available
|
| Cellular Location
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| 3 |
| Locus
| Not Available |
| SNPs
| MMACHC |
| Gene Sequence
|
>843 bp
ATGGAGCCGCTAGTCGCAGAGCTGAAGCAGAAGATTGAGGACACGTTGTGCCCTTTTGGC
TTCGAAGTTTACCCCTTCCAGGTGGCATGGTACAATGCACTCCTGCCTCCAGCCTTCCAC
CTACCCCTGCCAGGACCTACACTGGCCTTCCTGGTACTCAGCACACCTGCCATGTTTGAC
CAGGCCCTCAAGCCCTTCCTGCAGAGCCACCACCTCCAACCACTGACTGACCCTGTGGAC
CAGTGTGTGGCCTACCACCTGGGCCGAGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGAA
GTCATCGCTGACTACGAGGTACACCCCAACCGGCGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTAGCAGGGGCTGCTTACTACTATCAGCGACAGGATGTGGAGTCTGACCCTTGG
GGGACCCAGCACATAGCAGGTGTGTGCATACATCCCAGGTTTGGGGGCTGGTTTGCCATC
CGAGGGGTGGTGCTACTGCGAGGAACAGAGGTGCCGAATCTGCCACCCACAAAGCCCGTT
GACTGTGTACCCACAAGAGCTGACCGCATCAGCCTGCTTGAACGCTTCAATTTCCATTGG
CGTGACTGGACTTACCGGGATGCTGTGACACCTCAGGAGCGCTACTCAGAAGAGCAGAAG
GCATACTTTTCCACTCCTCCTGCCCAACGCTTGGCCTTACTGGGCTTGCTTCAGCCCTCA
GAGGAGCCTAGCTCTCCATCCCAAGAGCTTCACATCACTACACTCTTATCCAAGAAGCCT
CAGAATCCCAGGAGAGGCTGGCTCAGTCCCACAGTTTCCCCACCTATATCCCCTGGACCC
TGA
|
| Protein Properties |
|---|
| Number of Residues
| 280 |
| Molecular Weight
| 31633.0 |
| Theoretical pI
| 6.85 |
| Pfam Domain Function
|
Not Available |
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Methylmalonic aciduria and homocystinuria type C homolog
MEPLVAELKQKIEDTLCPFGFEVYPFQVAWYNALLPPAFHLPLPGPTLAFLVLSTPAMFD
QALKPFLQSHHLQPLTDPVDQCVAYHLGRVRESLPELQIEVIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVESDPWGTQHIAGVCIHPRFGGWFAIRGVVLLRGTEVPNLPPTKPV
DCVPTRADRISLLERFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLLQPS
EEPSSPSQELHITTLLSKKPQNPRRGWLSPTVSPPISPGP
|
| External Links |
|---|
| GenBank ID Protein
| AAX09009.1 |
| UniProtKB/Swiss-Prot ID
| Q5E9C8 |
| UniProtKB/Swiss-Prot Entry Name
| MMAC_BOVIN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| BT020992 |
| GeneCard ID
| MMACHC |
| GenAtlas ID
| Not Available |
| HGNC ID
| Not Available |
| References |
|---|
| General References
| Not Available |
