| Tag |
Content |
| Uniprot ID |
Q9CZD0; Q9D8S7;
|
| Entrez ID |
67096 |
| Genbank protein ID |
AAH54756.1; BAC39135.1; BAB25214.1; BAB28451.1; |
| Genbank nucleotide ID |
NM_025962.3 |
| Ensembl protein ID |
ENSMUSP00000030453 |
| Ensembl nucleotide ID |
ENSMUSG00000028690 |
|
Gene name
|
Cyanocobalamin reductase / alkylcobalamin dealkylase |
|
Gene symbol
|
Mmachc |
|
Organism
|
Mus musculus |
|
NCBI taxa ID
|
10090 |
|
Cleft type
|
CPO |
|
Developmental stage
|
|
|
Data sources
|
Manually collected |
| Reference |
27933520 |
|
Functional description
|
Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate. Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle. Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine. Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether. The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors. Cysteine and homocysteine cannot substitute for glutathione in this reaction. |
Sequence
| MEPRVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPFPGPTLAF LVLSTPAMFD 60
RALKPFLKSC HFQTLRDPVD QCVSYHLRSV TEKFPEVHME VIADYEVHPN RRPKILAQTA 120
AHVAGAAYYY QRQDVDADPW GTQHIAGVCI HPRFGGWFAI RGVMLLPGIE VPNLPPRKPP 180
DCVPTRAGRI TLLEGFNFHW RDWTYRDAVT PEERYSEEQK IYFSTPPAQR LALLGLAQPS 240
EHPSTTSELP LSLLTKPQNS RRARSWLSPS VSPPVSPGP 279 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
