| Tag | Content |
|---|---|
| Uniprot ID | A0A3Q2HUW6 |
| Entrez ID | |
| Genbank protein ID | |
| Genbank nucleotide ID | |
| Ensembl protein ID | ENSECAP00000038098 |
| Ensembl nucleotide ID | ENSECAG00000020032 |
| Gene name | Methylenetetrahydrofolate reductase |
| Gene symbol | MTHFR |
| Organism | Equus caballus |
| NCBI taxa ID | 9796 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MDHPKPKVLL ARHCCPSLGM WASEAGSVRF SVPPSISRNR AMVNEPRGNG GPIPRSDGSS 60 SGSESSRDSS RCSTPGLDPE RHERLREKMR RRMESGDKWF SLEFFPPRTA QGAVNLISRF 120 DQMGAGGPLF IDVTWHPAGD PGSDKETSSM MIASTAVNYC GLETVLHMTC CRQSREEITG 180 YLHKAKRLGL KNILALRGDP VGDQWEEEEG GFSYAADLVK HIRSEFGDYF DVCVAGYPKG 240 HPDSGSFEAD LKYLKEKVSA GADFIITQLF FEADTFFHFV KACSEIGITC PILPGIFPIQ 300 GYHSLRQLVK LSKLEVPQEI KDVIEPIKDN DGAIRNYGID QAVSLCQQLL ASGLVPGLHF 360 YTLNREVATT EVLKRLGMWV EDPRRPLPWA LSAHPKRREE DVRPIFWATR PKSYIYRTQE 420 WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPKEELLKM WGEELTSEES VFEVFAHYLS 480 GEPNQNGYKV TCLPWNDEPL AAETSLMKEE LLRVNRQGVL TINSQPNING KPSSDPVVGW 540 GPSGGYVFQK AYLEFFTSRE TVEALLQVLK KYELRVNYHI VDVKGENITN APELQPNAVT 600 WGIFPGREII QPTVVDPISF MFWKDEAFAL WIEQWGKLYE EESPSRMIIQ YIHDNYFLVN 660 LVDNDFPLDN CLWQVVEDTF ELLNRPAPNE REMEAP 696 |
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 | MTHFR | 497032 | A0A3Q1M8J1 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | MTHFR | E2QXW9 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | MTHFR | 102182523 | A0A452G4N1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MTHFR | A0A3Q2HUW6 | Equus caballus | Prediction | More>> | |||
| 1:1 ortholog | MTHFR | 4524 | P42898 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Mthfr | A2A7F9 | Mus musculus | Prediction | More>> | |||
| 1:1 ortholog | MTHFR | 469800 | H2PY11 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | 397180 | F1RF82 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Mthfr | 362657 | D4A7E8 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | mthfr | 567547 | B0V153 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0050660 | flavin adenine dinucleotide binding |
| GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| GO:0072341 | modified amino acid binding |
| GO:0044877 | protein-containing complex binding |
| GO:0070829 | heterochromatin maintenance |
| GO:0050667 | homocysteine metabolic process |
| GO:0006555 | methionine metabolic process |
| GO:0001843 | neural tube closure |
| GO:0031060 | regulation of histone methylation |
| GO:0035999 | tetrahydrofolate interconversion |
| Pfam ID | Pfam Term |
|---|---|
| PF02219 | MTHFR |