Gene: E2f1

Basic information

Tag Content
Uniprot ID Q9CYB4
Entrez ID 13555
Genbank protein ID BAB30968.1
Genbank nucleotide ID NM_001291105.1; NM_007891.5;
Ensembl protein ID ENSMUSP00000000894
Ensembl nucleotide ID ENSMUSG00000027490
Gene name Transcription factor E2F1
Gene symbol E2f1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E12.5, E13.5, E14.5
Data sources Homology search
Reference
Functional description
Sequence
MGKCFTQLQM VGLIFELMSA GLLQNLWLGS AHSCLLEVKR RLDLETDHQY LAGSSGPFRG 60
RGRHPGKGVK SPGEKSRYET SLNLTTKRFL ELLSRSADGV VDLNWAAEVL KVQKRRIYDI 120
TNVLEGIQLI AKKSKNHIQW LGSHTMVGIG KRLEGLTQDL QQLQESEQQL DHLMHICTTQ 180
LQLLSEDSDT QRLAYVTCQD LRSIADPAEQ MVIVIKAPPE TQLQAVDSSE TFQISLKSKQ 240
GPIDVFLCPE ESADGISPGK TSCQETSSGE DRTADSGPAG PPPSPPSTSP ALDPSQSLLG 300
LEQEAVLPRM GHLRVPMEED QLSPLVAADS LLEHVKEDFS GLLPGEFISL SPPHEALDYH 360
FGLEEGEGIR DLFDCDFGDL TPLDF 385

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 orthologE2F1A0A452ESG5Capra hircusPredictionMore>>
1:1 orthologE2F11869Q01094Homo sapiensPublicationMore>>
1:1 orthologE2f113555Q9CYB4E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologE2f1399489O09139Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
E2F1rs2071054C>TGenotyping25045080

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1640170 Cell CycleIEA
R-MMU-453274 Mitotic G2-G2/M phasesIEA
R-MMU-453279 Mitotic G1 phase and G1/S transitionIEA
R-MMU-68689 CDC6 association with the ORC:origin complexIEA
R-MMU-68867 Assembly of the pre-replicative complexIEA
R-MMU-68911 G2 PhaseIEA
R-MMU-69002 DNA Replication Pre-InitiationIEA
R-MMU-69231 Cyclin D associated events in G1IEA
R-MMU-69236 G1 PhaseIEA
R-MMU-69278 Cell Cycle, MitoticIEA
R-MMU-69306 DNA ReplicationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1267 Proteomics identification
KW-1185 Reference proteome
KW-0732 Signal
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR015633 E2F
IPR037241 E2F-DP_heterodim
IPR032198 E2F_CC-MB
IPR003316 E2F_WHTH_DNA-bd_dom
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF16421 E2F_CC-MB
PF02319 E2F_TDP

Protein-protein interaction

Protein-miRNA interaction