Tag | Content |
---|---|
Uniprot ID | O00358; O75765; Q5T109; Q99526; |
Entrez ID | 2304 |
Genbank protein ID | CAA73816.1; AAC51294.1; CAA64246.1; EAW58856.1; |
Genbank nucleotide ID | NM_004473.3 |
Ensembl protein ID | ENSP00000364265 |
Ensembl nucleotide ID | ENSG00000178919 |
Gene name | Forkhead box protein E1 |
Gene symbol | FOXE1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | CPO,CL/P |
Developmental stage | |
Data sources | Manually collected |
Reference | 21462296; 19779022; 24563486; 26100861; 24252547; 26728781; |
Functional description | Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression. |
Sequence | MTAESGPPPP QPEVLATVKE ERGETAAGAG VPGEATGRGA GGRRRKRPLQ RGKPPYSYIA 60 LIAMAIAHAP ERRLTLGGIY KFITERFPFY RDNPKKWQNS IRHNLTLNDC FLKIPREAGR 120 PGKGNYWALD PNAEDMFESG SFLRRRKRFK RSDLSTYPAY MHDAAAAAAA AAAAAAAAAI 180 FPGAVPAARP PYPGAVYAGY APPSLAAPPP VYYPAASPGP CRVFGLVPER PLSPELGPAP 240 SGPGGSCAFA SAGAPATTTG YQPAGCTGAR PANPSAYAAA YAGPDGAYPQ GAGSAIFAAA 300 GRLAGPASPP AGGSSGGVET TVDFYGRTSP GQFGALGACY NPGGQLGGAS AGAYHARHAA 360 AYPGGIDRFV SAM 373 |
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.