Gene Gene information from NCBI Gene database.
Entrez ID 51176
Gene name Lymphoid enhancer binding factor 1
Gene symbol LEF1
Synonyms (NCBI Gene)
ECTD1ECTD17LEF-1TCF10TCF1ALPHATCF7L3
Chromosome 4
Chromosome location 4q25
Summary This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereb
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT016343 hsa-miR-193b-3p Microarray 20304954
MIRT025380 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
MIRT053004 hsa-miR-218-5p Luciferase reporter assayWestern blot 22766851
MIRT053005 hsa-miR-449a Luciferase reporter assayqRT-PCRWestern blot 22769578
MIRT054053 hsa-miR-34c-3p Luciferase reporter assayWestern blot 22421157
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
AES Activation 20676368
LMO2 Repression 22517897
PAX5 Activation 9545244
PITX2 Activation 17785445
ZBTB16 Unknown 19723763
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
135
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20363964
GO:0000785 Component Chromatin IBA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 23001182
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
153245 6551 ENSG00000138795
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJU2
Protein name Lymphoid enhancer-binding factor 1 (LEF-1) (T cell-specific transcription factor 1-alpha) (TCF1-alpha)
Protein function Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG anta
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08347 CTNNB1_binding 1 213 N-terminal CTNNB1 binding Family
PF00505 HMG_box 299 367 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Detected in thymus. Not detected in normal colon, but highly expressed in colon cancer biopsies and colon cancer cell lines. Expressed in several pancreatic tumors and weakly expressed in normal pancreatic tissue. Isoforms 1 and 5 are
Sequence
Sequence length 399
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ectodermal dysplasia 17 with or without limb malformations Pathogenic rs2126274969, rs2110266987 RCV005416217
RCV005416218
Ectrodactyly Pathogenic rs2126274969, rs2110266987 RCV003232418
RCV003232419
Ectrodactyly and ectodermal dysplasia without cleft lip/palate Pathogenic rs2110433384 RCV001775057
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal radial ray morphology Uncertain significance rs2126285505 RCV001780083
LEF1-related disorder Likely benign rs372432542 RCV003969561
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Stimulate 32977233
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 37207705
Adenocarcinoma of Lung Associate 23224985
Adenocarcinoma of Lung Stimulate 29866045
Adenoma Associate 39881334
Adenomatous Polyposis Coli Stimulate 10318916
Adenomatous Polyposis Coli Inhibit 18076571
Adenomatous Polyposis Coli Associate 31623618
Alopecia Associate 27472703
Arthritis Rheumatoid Associate 12428226, 33004899