| Tag | Content |
|---|---|
| Uniprot ID | P11586; B2R5Y2; G3V2B8; Q86VC9; Q9BVP5; |
| Entrez ID | 4522 |
| Genbank protein ID | AAH01014.2; AAA59574.1; AAH09806.1; BAG35279.1; AAH50420.1; EAW80857.1; |
| Genbank nucleotide ID | NM_005956.3 |
| Ensembl protein ID | ENSP00000450560; ENSP00000216605; |
| Ensembl nucleotide ID | ENSG00000100714 |
| Gene name | C-1-tetrahydrofolate synthase, cytoplasmic |
| Gene symbol | MTHFD1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25129243; 18661527; |
| Functional description | |
| Sequence | MAPAEILNGK EISAQIRARL KNQVTQLKEQ VPGFTPRLAI LQVGNRDDSN LYINVKLKAA 60 EEIGIKATHI KLPRTTTESE VMKYITSLNE DSTVHGFLVQ LPLDSENSIN TEEVINAIAP 120 EKDVDGLTSI NAGRLARGDL NDCFIPCTPK GCLELIKETG VPIAGRHAVV VGRSKIVGAP 180 MHDLLLWNNA TVTTCHSKTA HLDEEVNKGD ILVVATGQPE MVKGEWIKPG AIVIDCGINY 240 VPDDKKPNGR KVVGDVAYDE AKERASFITP VPGGVGPMTV AMLMQSTVES AKRFLEKFKP 300 GKWMIQYNNL NLKTPVPSDI DISRSCKPKP IGKLAREIGL LSEEVELYGE TKAKVLLSAL 360 ERLKHRPDGK YVVVTGITPT PLGEGKSTTT IGLVQALGAH LYQNVFACVR QPSQGPTFGI 420 KGGAAGGGYS QVIPMEEFNL HLTGDIHAIT AANNLVAAAI DARIFHELTQ TDKALFNRLV 480 PSVNGVRRFS DIQIRRLKRL GIEKTDPTTL TDEEINRFAR LDIDPETITW QRVLDTNDRF 540 LRKITIGQAP TEKGHTRTAQ FDISVASEIM AVLALTTSLE DMRERLGKMV VASSKKGEPV 600 SAEDLGVSGA LTVLMKDAIK PNLMQTLEGT PVFVHAGPFA NIAHGNSSII ADRIALKLVG 660 PEGFVVTEAG FGADIGMEKF FNIKCRYSGL CPHVVVLVAT VRALKMHGGG PTVTAGLPLP 720 KAYIQENLEL VEKGFSNLKK QIENARMFGI PVVVAVNAFK TDTESELDLI SRLSREHGAF 780 DAVKCTHWAE GGKGALALAQ AVQRAAQAPS SFQLLYDLKL PVEDKIRIIA QKIYGADDIE 840 LLPEAQHKAE VYTKQGFGNL PICMAKTHLS LSHNPEQKGV PTGFILPIRD IRASVGAGFL 900 YPLVGTMSTM PGLPTRPCFY DIDLDPETEQ VNGLF 935 |
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.