Gene: Foxe1

Basic information

Tag Content
Uniprot ID Q8R2I0; A2AM00;
Entrez ID 110805
Genbank protein ID CAD29716.2
Genbank nucleotide ID NM_183298.1
Ensembl protein ID ENSMUSP00000092715
Ensembl nucleotide ID ENSMUSG00000070990
Gene name Forkhead box protein E1
Gene symbol Foxe1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 9697704; 22304410;
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 (PubMed:21177256). Also implicated in thyroid gland morphogenesis (PubMed:9697704). May indirectly play a role in cell growth and migration through the regulation of WNT5A expression (By similarity).
Sequence
MTAESAPPPP PQPETLAAVK EERGEAAAAG AGVPAEAAGR GAGGRRRKRP LQRGKPPYSY 60
IALIAMAIAH APERRLTLGG IYKFITERFP FYRDNPKKWQ NSIRHNLTLN DCFLKIPREA 120
GRPGKGNYWA LDPNAEDMFE SGSFLRRRKR FKRSDLSTYP AYMHDAAAAA AAAAAAIFPG 180
AVPAARPAYP GAVYAGYAPP LAAPPPVYYP AASPGPCRVF GLVPERPLSP DLGPAPSAAG 240
GSCAFAAAAG AAGTGSFQPA VCTGARPVNP AAYAAAYAGP DGAYPQGASS ALFAAAAGRL 300
AGPASPPAGG GSGGVEATVD FYGRTSPGQF GAALGPCYNP GGQLGAGGGG AYHSRHATAY 360
PGAVDRFVSA M 371

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFOXE1616734F1ME54Bos taurusPredictionMore>>
1:1 orthologFOXE1106502413A0A452DS04Capra hircusPredictionMore>>
1:1 orthologFOXE12304O00358CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologFoxe1110805Q8R2I0CPOMus musculusPublicationMore>>
1:1 orthologFOXE1100610790H2R467Pan troglodytesPredictionMore>>
1:1 orthologFOXE1100157892F1SSG9Sus scrofaPredictionMore>>
1:1 orthologFoxe1192274O08771Rattus norvegicusPredictionMore>>
1:1 orthologfoxe1R4GEW1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FOXE1rs1867277high-resolution melting curve method or Sequenom MassARRAY method29509083
FOXE1rs894673A>TGWAS and TDT33165418
FOXE1rs3758249T>CGWAS and TDT33165418
FOXE1rs7860144G>A (decrease risk)Genotyping21462296
FOXE1rs874004C>GGenotyping21462296
FOXE1rs973473G>TGenotyping21462296
FOXE1rs10217225C>T (increase risk)meta analysis31944555
FOXE1rs4460498C>T (protective)meta analysis31944555
FOXE1rs7043516Genotyping was performed with double ligation and multiplex fluorescence PCR26728781
FOXE1rs4460498Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)26100861
FOXE1rs3758249Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)26100861
FOXE1rs4460498Genotyping24563486
FOXE1rs3758249Genotyping24563486
FOXE1rs3758249fine mapping strategy19779022
FOXE1rs4460498fine mapping strategy19779022
FOXE1c.274G>TPCR-RFLP24252547
FOXE1c.569C>GPCR-RFLP24252547
FOXE1c.569C>TPCR-RFLP24252547
FOXE1c.664C>TPCR-RFLP24252547
FOXE1c.1090G>APCR-RFLP24252547
FOXE1c.572C>GPCR-RFLP24252547

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISS
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISO
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0003677 DNA bindingISO
GO:0003700 DNA-binding transcription factor activityISO
GO:0043565 sequence-specific DNA bindingISS
GO:0043565 sequence-specific DNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0006357 regulation of transcription by RNA polymerase IIISS
GO:0006357 regulation of transcription by RNA polymerase IIISO
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0006590 thyroid hormone generationIMP
GO:0009653 anatomical structure morphogenesisIBA
GO:0016477 cell migrationIMP
GO:0030154 cell differentiationIBA
GO:0030878 thyroid gland developmentISO
GO:0030878 thyroid gland developmentIMP
GO:0031069 hair follicle morphogenesisIMP
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0048538 thymus developmentIEA
GO:0048562 embryonic organ morphogenesisIMP
GO:0060021 roof of mouth developmentIMP
GO:0060022 hard palate developmentISO
GO:0060023 soft palate developmentISO
GO:0060465 pharynx developmentIEA
GO:1904888 cranial skeletal system developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005634 nucleusIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0238 DNA-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS00657 FORK_HEAD_1
PS00658 FORK_HEAD_2
PS50039 FORK_HEAD_3

Pfam

Pfam ID Pfam Term
PF00250 Forkhead