| Tag | Content |
|---|---|
| Uniprot ID | H2PYX3; A0A2J8LZZ6; |
| Entrez ID | 469180 |
| Genbank protein ID | JAA13533.1; JAA02791.1; JAA33251.1; |
| Genbank nucleotide ID | XM_524565.5 |
| Ensembl protein ID | ENSPTRP00000083955 |
| Ensembl nucleotide ID | ENSPTRG00000052080 |
| Gene name | Metabolism of cobalamin associated C |
| Gene symbol | MMACHC |
| Organism | Pan troglodytes |
| NCBI taxa ID | 9598 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MEPKVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPLPGPTLAF LVLSTPAMFD 60 RALKPFLQSC HLRMLTDPVD QCVAYHLGRV RESLPELQIE IIADYEVHPN RRPKILAQTA 120 AHVAGAAYYY QRQDVEADPW GNQRISGVCI HPRFGGWFAI RGVVLLPGIE VPDLPPRKPH 180 DCVPTRADRI VLLEGFNFHW RDWTYRDAVT PQERYSEEQK AYFSTPPAQR LALLGLAQPS 240 EKPSSPSPDL PFTTPAPKKP GNPSRARSWL SPRVSPPASP GP 282 |
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 |