Tag | Content |
---|---|
Uniprot ID | O14896; B4DLE2; D3DT90; F5GWX8; G0ZTL0; |
Entrez ID | 3664 |
Genbank protein ID | AAH14852.1; AAB84111.1; EAW93438.1; AEL89176.1; EAW93439.1; BAG59504.1; |
Genbank nucleotide ID | NM_001206696.1; NM_006147.3; |
Ensembl protein ID | ENSP00000355988; ENSP00000440532; |
Ensembl nucleotide ID | ENSG00000117595 |
Gene name | Interferon regulatory factor 6 |
Gene symbol | IRF6 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | CPO,CL/P |
Developmental stage | |
Data sources | Manually collected |
Reference | 18278815; 16096995; 25592222; 12920575; 16132054; 18247422; 26346622; 20121942; 16160700; 15317890; 12964020; 20436469; 21039277; 20799332; 18209213; 17702008; 22887868; 25579819; 18506368; 17438386; 19734457; 20544801; 21683068; 25853057; 17549393; 15994871; 19419265; 25896061; 26714022; 12219090; 19536891; 20564431; 21834040; 23029012; 23921572; 21045959; 23169698; 20652317; 14618417; 27033726; 23940636; 15558496; 18798331; 19388848; 15013698; 14757865; 16998136; 23713753; 15472655; 25896037; |
Functional description | Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). |
Sequence | MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 60 AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 120 GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 180 CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 240 MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300 GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 360 GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 420 LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 467 |
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.