Tag | Content |
---|---|
Uniprot ID | B7ZM99 |
Entrez ID | 25902 |
Genbank protein ID | AAI44369.1; AAI36686.1; |
Genbank nucleotide ID | XM_017010702.1; NM_001242767.1; XM_017010703.1; |
Ensembl protein ID | ENSP00000478253 |
Ensembl nucleotide ID | ENSG00000120254 |
Gene name | MTHFD1L protein |
Gene symbol | MTHFD1L |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | |
Sequence | MGTRLPLVLR QLRRPPQPPG PPRRLRVPCR ASSGGGGGGG GGREGLLGQR RPQDGQARSS 60 CSPGGRTPAA RDSIVREVIQ NSKEVLSLLQ EKNPAFKPVL AIIQAGDDNL MQEINQNLAE 120 EAGLNITHIC LPPDSSEAEI IDEILKINED TRVHGLALQI SENLFSNKVL NALKPEKDVD 180 GVTDINLGKL VRGDAHECFV SPVAKAVIEL LEKSVGVNLD GKKILVVGAH GSLEAALQCL 240 FQRKGSMTMS IQWKTRQLQS KLHEADIVVL GSPKPEEIPL TWIQPGTTVL NCSHDFLSGK 300 VGCGSPRIHF GGLIEEDDVI LLAAALRIQN MVSSGRRWLR EQQHRRWRLH CLKLQPLSPV 360 PSDIEISRGQ TPKAVDVLAK EIGLLADEIE IYGKSKAKVR LSVLERLKDQ ADGKYVLVAG 420 ITPTPLGEGK STVTIGLVQA LTAHLNVNSF ACLRQPSQGP TFGVKGGAAG GGYAQVIPME 480 EFNLHLTGDI HAITAANNLL AAAIDTRILH ENTQTDKALY NRLVPLVNGV REFSEIQLAR 540 LKKLGINKTD PSTLTEEEVS KFARLDIDPS TITWQRVLDT NDRFLRKITI GQGNTEKGHY 600 RQAQFDIAVA SEIMAVLALT DSLADMKARL GRMVVASDKS GQPVTADDLG VTGALTVLMK 660 DAIKPNLMQT LEGTPVFVHA GPFANIAHGN SSVLADKIAL KLVGEEGFVV TEAGFGADIG 720 MEKFFNIKCR ASGLVPNVVV LVATVRALKM HGGGPSVTAG VPLKKEYTEE NIQLVADGCC 780 NLQKQIQITQ LFGVPVVVAL NVFKTDTRAE IDLVCELAKR AGAFDAVPCY HWSVGGKGSV 840 DLARAVREAA SKRSRFQFLY DVQVPIVDKI RTIAQAVYGA KDIELSPEAQ AKIDRYTQQG 900 FGNLPICMAK THLSLSHQPD KKGVPRDFIL PISDVRASIG AGFIYPLVGT MSTMPGLPTR 960 PCFYDIDLDT ETEQVKGLF 979 |
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.