| Tag | Content |
|---|---|
| Uniprot ID | D4A729 |
| Entrez ID | 313520 |
| Genbank protein ID | EDL90263.1 |
| Genbank nucleotide ID | NM_001107962.1 |
| Ensembl protein ID | ENSRNOP00000023178 |
| Ensembl nucleotide ID | ENSRNOG00000017233 |
| Gene name | Metabolism of cobalamin-associated C |
| Gene symbol | Mmachc |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MEPRVAELKQ KIEGTLCPFG FEVYPFQVAW YNELLPPAFH LPFPGPTLAF VVLSTPAMFD 60 RALKPFLKSC HLQTLRDPVD QCVSYHLKSV TEKFPELHIE VIADYEVHPN RRPKILAQTA 120 AHVAGAAYYY QRQDVDADPW GTQHIAGVCI HPRFGGWFAI RGVMLLPGIE VPNLLPRKPP 180 DCVPTRAARI TLLEGFNFHW RDWTYRDAVT PEERYSEEQK IYFSTPPAQR LALLGLAQPS 240 GHPSTTSEHP LSLLTKPQDS RRLRSWLSPS VSPPASPGP 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | MMACHC | Q5E9C8 | Bos taurus | Prediction | More>> | |||
| 1:1 ortholog | MMACHC | 102183931 | A0A452G8L9 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MMACHC | 25974 | Q9Y4U1 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Mmachc | 67096 | Q9CZD0 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | MMACHC | 469180 | H2PYX3 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | MMACHC | 100347413 | G1SQ06 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Mmachc | 313520 | D4A729 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | mmachc | F1QZ86 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005737 | cytoplasm |
| GO:0033787 | cyanocobalamin reductase (cyanide-eliminating) activity |
| GO:0032451 | demethylase activity |
| GO:0071949 | FAD binding |
| GO:0043295 | glutathione binding |
| GO:0016491 | oxidoreductase activity |
| GO:0042803 | protein homodimerization activity |
| GO:0009236 | cobalamin biosynthetic process |
| GO:0009235 | cobalamin metabolic process |
| GO:0070988 | demethylation |
| GO:0006749 | glutathione metabolic process |
| GO:0055114 | oxidation-reduction process |
| Keyword ID | Keyword Term |
|---|---|
| KW-1185 | Reference proteome |
| InterPro ID | InterPro Term |
|---|---|
| IPR032037 | MMACHC |
| Pfam ID | Pfam Term |
|---|---|
| PF16690 | MMACHC |