| Tag | Content |
|---|---|
| Uniprot ID | G1SQ06 |
| Entrez ID | 100347413 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_002715139.3 |
| Ensembl protein ID | ENSOCUP00000005152 |
| Ensembl nucleotide ID | ENSOCUG00000005954 |
| Gene name | Metabolism of cobalamin associated C |
| Gene symbol | MMACHC |
| Organism | Oryctolagus cuniculus |
| NCBI taxa ID | 9986 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MEPHVAELQQ KVEDTLCPFG FEVYPFQVAW YNELLPPAFH LPLPGPTLAF LVLSTPAMFD 60 QALKPFLQSC HLQPLTDPVD QCVAYHLSRV KQSLPELQIE VIADYEVHPN RRPKILAQTA 120 AHVAGAAYYY QRQDVEDDPW GNQHISGVCI HPQFGGWFAI RAVVLLPGIE VPDLPPRKPP 180 DCVPTRADRI ALLEGFNFRW RDWTYRDAVT PQERYSEEQK AYFSTPPAQR LALLGLAQPS 240 EPRPSSPGLS FTTVNCKKPQ NPGRARSWLS PRVSPPESPG P 281 |
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:0042803 | protein homodimerization activity |
| GO:0009235 | cobalamin metabolic process |
| GO:0006749 | glutathione metabolic process |
| Keyword ID | Keyword Term |
|---|---|
| KW-1185 | Reference proteome |
| InterPro ID | InterPro Term |
|---|---|
| IPR032037 | MMACHC |
| Pfam ID | Pfam Term |
|---|---|
| PF16690 | MMACHC |