| Tag | Content |
|---|---|
| Uniprot ID | Q3V3R1; Q3TVQ0; Q3V402; Q80V98; Q8CAL0; Q8K2N5; |
| Entrez ID | 270685 |
| Genbank protein ID | AAH30437.1; BAE20438.1; BAC30053.1; AAH49936.1; BAE20500.1; BAE35568.1; |
| Genbank nucleotide ID | NM_001170785.1; NM_001170786.1; NM_172308.4; |
| Ensembl protein ID | ENSMUSP00000036178; ENSMUSP00000112870; ENSMUSP00000112897; |
| Ensembl nucleotide ID | ENSMUSG00000040675 |
| Gene name | Monofunctional C1-tetrahydrofolate synthase, mitochondrial |
| Gene symbol | Mthfd1l |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 23267094 |
| Functional description | May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. |
| Sequence | MSVRLPLLLR QLGRQQLPSG PACRLRELCR SGSRSSSSGG GDPEGLRGRR LQDGQTFSSH 60 GPGNPEAPGM DSIVRDVIHN SKEVLSLLQE KNPAFKPVLV VIQAGDDNLM KDMNQNLAKE 120 AGLDITHICL PPDSGEDEII DEILKINEDP RVHGLTLQIS EDSLSNKVLN ALKPEKDVDG 180 VTDINLGKLV RGDAPECFVS PLAKAAVELV EKSGITLDGK KVLVVGAHGP LEAALQWLFQ 240 RKGSMTMSCP WATPQLPDKL READIVVLGS PKPEEIPAVW IPSGTTILNC FHDFLSGKLS 300 GGSPGVPVDK LIAEESVSLL AAALRIQNMV SSGRRWLREQ QHRRWRLHCL KLQPLSPVPS 360 DIEISRGQTP KAVDVLAKEI GLLADEIEIY GKSKAKVQLS LLERLKDQTD GKYVLVAGIT 420 PTPLGEGKST VTIGLVQALT AHLKVNSFAC LRQPSQGPTF GVKGGAAGGG YAQVIPMEEF 480 NLHLTGDIHA ITAANNLLAA AIDTRILHES TQTDKALYNR LVPLVNGVRE FSEIQLSRLK 540 KLGIHKTDPS TLTEEEVRKF ARLNIDPATI TWQRVLDTND RFLRKITIGQ GSTEKGYSRQ 600 AQFDIAVASE IMAVLALTDS LTDMKERLGR MVVASDKDGQ PVTAEDLGVT GALTVLMKDA 660 IKPNLMQTLE GTPVFVHAGP FANIAHGNSS VLADKIALKL VGEEGFVVTE AGFGADIGME 720 KFFNIKCRAS GLVPNVVVLV ATVRALKMHG GGPSVTAGVP LKKEYTEENI QLVADGCCNL 780 QKQIQIAQLF GVPVVVALNV FKTDTRAEID LVCELAKRAG AFDAVPCYHW SAGGKGSVDL 840 ARAVREAANK RSRFQFLYDV QLPIVEKIRV IAQTVYGAKD IELSPEAQSK IDRYTQQGFG 900 NLPICMAKTH LSLSHEPDKK GVPRDFTLPI SDVRASIGAG FIYPLVGTMS TMPGLPTRPC 960 FYDIDLDTET EQVKGLF 977 |
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 | MTHFD1L | 102188948 | A0A452G6W1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MTHFD1L | 25902 | B7ZM99 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Mthfd1l | 270685 | Q3V3R1 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | H2QTW9 | Pan troglodytes | Prediction | More>> | ||||
| 1:1 ortholog | MTHFD1L | F1S7V9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Mthfd1l | 361472 | B2GUZ3 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | mthfd1l | 100034522 | F1QQ79 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004329 | formate-tetrahydrofolate ligase activity | ISO |
| GO:0004329 | formate-tetrahydrofolate ligase activity | IBA |
| GO:0004488 | methylenetetrahydrofolate dehydrogenase (NADP+) activity | IEA |
| GO:0005524 | ATP binding | ISO |
| GO:0042803 | protein homodimerization activity | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001843 | neural tube closure | IMP |
| GO:0006760 | folic acid-containing compound metabolic process | ISO |
| GO:0009113 | purine nucleobase biosynthetic process | IBA |
| GO:0009257 | 10-formyltetrahydrofolate biosynthetic process | ISO |
| GO:0009257 | 10-formyltetrahydrofolate biosynthetic process | IBA |
| GO:0015942 | formate metabolic process | ISO |
| GO:0035999 | tetrahydrofolate interconversion | IEA |
| GO:0048702 | embryonic neurocranium morphogenesis | IMP |
| GO:0048703 | embryonic viscerocranium morphogenesis | IMP |
| GO:0055114 | oxidation-reduction process | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | IBA |
| GO:0005739 | mitochondrion | ISO |
| GO:0005739 | mitochondrion | HDA |
| GO:0005739 | mitochondrion | IDA |
| GO:0005739 | mitochondrion | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-196757 | Metabolism of folate and pterines | IEA |
| R-MMU-196849 | Metabolism of water-soluble vitamins and cofactors | IEA |
| R-MMU-196854 | Metabolism of vitamins and cofactors | IEA |