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Aliases for LEF1 Gene

Aliases for LEF1 Gene

  • Lymphoid Enhancer Binding Factor 1 2 3 5
  • T Cell-Specific Transcription Factor 1-Alpha 3 4
  • Lymphoid Enhancer-Binding Factor 1 2 3
  • TCF1-Alpha 3 4
  • LEF-1 3 4
  • TCF1ALPHA 3
  • TCF7L3 3
  • TCF10 3

External Ids for LEF1 Gene

Previous GeneCards Identifiers for LEF1 Gene

  • GC04M109394
  • GC04M109289
  • GC04M109427
  • GC04M109326
  • GC04M109188
  • GC04M108968
  • GC04M104700

Summaries for LEF1 Gene

Entrez Gene Summary for LEF1 Gene

  • 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, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for LEF1 Gene

LEF1 (Lymphoid Enhancer Binding Factor 1) is a Protein Coding gene. Diseases associated with LEF1 include Colorectal Cancer and Severe Congenital Neutropenia. Among its related pathways are PAK Pathway and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is TCF7L2.

UniProtKB/Swiss-Prot for LEF1 Gene

  • Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells. Isoform 1 transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells.

Gene Wiki entry for LEF1 Gene

Additional gene information for LEF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEF1 Gene

Genomics for LEF1 Gene

GeneHancer (GH) Regulatory Elements for LEF1 Gene

Promoters and enhancers for LEF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I108164 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.1 2057 5.4 PKNOX1 FOXA2 ZNF2 ZNF280A ZNF121 GLIS2 KLF7 RUNX3 SP3 REST LEF1 LEF1-AS1 CYP2U1 HADH GC04P108129
GH04I108169 Enhancer 0.8 Ensembl ENCODE dbSUPER 550.8 -1.0 -972 0.3 ZSCAN29 PRDM10 EZH2 LEF1 LEF1-AS1 GC04P108177 PIR33250 GC04P108129
GH04I108105 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.9 +56.1 56061 13.9 PKNOX1 FOXA2 SMAD1 ARNT FEZF1 IRF4 FOS JUNB ZNF592 SMARCA4 LEF1 ENSG00000249604 LEF1-AS1 CYP2U1 HADH GC04P108129 GC04M107959
GH04I108140 Enhancer 1.3 VISTA UCNEbase ENCODE dbSUPER 12 +27.5 27538 2.4 PKNOX1 ATF7 MLLT1 RUNX3 TCF7L2 LEF1 LEF1-AS1 CYP2U1 HADH GC04P108129
GH04I108354 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -187.0 -186989 2.3 NFIC POLR2A SCRT2 CEBPB RCOR1 CHD2 CYP2U1 LEF1 ZACNP1 GC04P108177 PIR33250
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LEF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LEF1 gene promoter:

Genomic Locations for LEF1 Gene

Genomic Locations for LEF1 Gene
chr4:108,047,545-108,168,956
(GRCh38/hg38)
Size:
121,412 bases
Orientation:
Minus strand
chr4:108,968,701-109,090,112
(GRCh37/hg19)

Genomic View for LEF1 Gene

Genes around LEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEF1 Gene

Proteins for LEF1 Gene

  • Protein details for LEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJU2-LEF1_HUMAN
    Recommended name:
    Lymphoid enhancer-binding factor 1
    Protein Accession:
    Q9UJU2
    Secondary Accessions:
    • B4DG38
    • B7Z8E2
    • E9PDK3
    • Q3ZCU4
    • Q9HAZ0

    Protein attributes for LEF1 Gene

    Size:
    399 amino acids
    Molecular mass:
    44201 Da
    Quaternary structure:
    • Binds the armadillo repeat of CTNNB1 and forms a stable complex. Interacts with EP300, TLE1 and PIASG (By similarity). Binds ALYREF/THOC4, MDFI and MDFIC. Interacts with NLK.

    Alternative splice isoforms for LEF1 Gene

neXtProt entry for LEF1 Gene

Post-translational modifications for LEF1 Gene

  • Phosphorylated at Thr-155 and/or Ser-166 by NLK. Phosphorylation by NLK at these sites represses LEF1-mediated transcriptional activation of target genes of the canonical Wnt signaling pathway.
  • Ubiquitination at posLast=324324, isoforms=3, 5, 7382, and posLast=373373
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LEF1 Gene

Domains & Families for LEF1 Gene

Gene Families for LEF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for LEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJU2

UniProtKB/Swiss-Prot:

LEF1_HUMAN :
  • Proline-rich and acidic regions are implicated in the activation functions of RNA polymerase II transcription factors.
  • Belongs to the TCF/LEF family.
Domain:
  • Proline-rich and acidic regions are implicated in the activation functions of RNA polymerase II transcription factors.
Family:
  • Belongs to the TCF/LEF family.
genes like me logo Genes that share domains with LEF1: view

Function for LEF1 Gene

Molecular function for LEF1 Gene

GENATLAS Biochemistry:
lymphoid enhancer-binding factor,complexing with TCF4 and beta catenin for activation of wingless responsive genes
UniProtKB/Swiss-Prot Function:
Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells. Isoform 1 transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells.

Phenotypes From GWAS Catalog for LEF1 Gene

Gene Ontology (GO) - Molecular Function for LEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23001182
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 23001182
GO:0003677 DNA binding ISS --
genes like me logo Genes that share ontologies with LEF1: view
genes like me logo Genes that share phenotypes with LEF1: view

Animal Models for LEF1 Gene

MGI Knock Outs for LEF1:

Animal Model Products

Clone Products

  • Addgene plasmids for LEF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LEF1 Gene

Localization for LEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEF1 Gene

Nucleus. Note=Found in nuclear bodies upon PIASG binding. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEF1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17063141
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 11751639
GO:0005737 cytoplasm IDA 19402906
GO:0032993 protein-DNA complex IDA 10825188
genes like me logo Genes that share ontologies with LEF1: view

Pathways & Interactions for LEF1 Gene

genes like me logo Genes that share pathways with LEF1: view

SIGNOR curated interactions for LEF1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001569 branching involved in blood vessel morphogenesis IBA --
GO:0001649 osteoblast differentiation IEP 20128911
GO:0001755 neural crest cell migration IBA --
GO:0001756 somitogenesis IBA --
genes like me logo Genes that share ontologies with LEF1: view

Drugs & Compounds for LEF1 Gene

(5) Drugs for LEF1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethacrynic acid Approved, Investigational Pharma Target 3

(2) Additional Compounds for LEF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LEF1: view

Transcripts for LEF1 Gene

Unigene Clusters for LEF1 Gene

Lymphoid enhancer-binding factor 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for LEF1

Alternative Splicing Database (ASD) splice patterns (SP) for LEF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - -
SP11:

ExUns: 19b · 19c · 19d · 19e · 19f · 19g
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for LEF1 Gene

GeneLoc Exon Structure for
LEF1
ECgene alternative splicing isoforms for
LEF1

Expression for LEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LEF1 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for LEF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (41.0), CD4 Tcells (18.0), and CD8 Tcells (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LEF1 Gene



Protein tissue co-expression partners for LEF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LEF1 Gene:

LEF1

SOURCE GeneReport for Unigene cluster for LEF1 Gene:

Hs.743478

mRNA Expression by UniProt/SwissProt for LEF1 Gene:

Q9UJU2-LEF1_HUMAN
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 detected in several pancreatic cell lines.

Evidence on tissue expression from TISSUES for LEF1 Gene

  • Skin(4.6)
  • Nervous system(4.4)
  • Intestine(2.6)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with LEF1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LEF1 Gene

Orthologs for LEF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEF1 33 34
  • 99.75 (n)
oppossum
(Monodelphis domestica)
Mammalia LEF1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEF1 33 34
  • 95.57 (n)
cow
(Bos Taurus)
Mammalia LEF1 33 34
  • 95.24 (n)
mouse
(Mus musculus)
Mammalia Lef1 33 16 34
  • 91.52 (n)
rat
(Rattus norvegicus)
Mammalia Lef1 33
  • 90.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LEF1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEF-1 34
  • 95 (a)
OneToOne
LEF1 33
  • 85.25 (n)
lizard
(Anolis carolinensis)
Reptilia LEF1 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lef1 33
  • 80.8 (n)
Str.10421 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398238 33
zebrafish
(Danio rerio)
Actinopterygii lef1 33 34
  • 77.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta pan 35 34
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea pop-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11069 34
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1608 33
Species where no ortholog for LEF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LEF1 Gene

ENSEMBL:
Gene Tree for LEF1 (if available)
TreeFam:
Gene Tree for LEF1 (if available)

Paralogs for LEF1 Gene

Paralogs for LEF1 Gene

(3) SIMAP similar genes for LEF1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LEF1: view

Variants for LEF1 Gene

Sequence variations from dbSNP and Humsavar for LEF1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs267607214 pathogenic, Sebaceous tumors, somatic 108,167,635(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs267607215 pathogenic, Sebaceous tumors, somatic 108,167,587(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs369649181 A colorectal cancer sample 108,163,645(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000016381 -- 108,167,435(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000027770 -- 108,103,837(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LEF1 Gene

Variant ID Type Subtype PubMed ID
esv275379 CNV loss 21479260
esv3369303 CNV insertion 20981092
esv3564417 CNV deletion 23714750
esv3575767 CNV gain 25503493
nsv4458 CNV deletion 18451855
nsv479048 CNV novel sequence insertion 20440878
nsv830032 CNV gain 17160897

Variation tolerance for LEF1 Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEF1 Gene

Disorders for LEF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LEF1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
severe congenital neutropenia
  • kostmann disease
prostate cancer
  • prostate cancer, susceptibility to
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
skin pilomatrix carcinoma
  • malignant pilomatricoma
- elite association - COSMIC cancer census association via MalaCards
Search LEF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LEF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LEF1 Gene

Publications for LEF1 Gene

  1. Lef-1 isoforms regulate different target genes and reduce cellular adhesion. (PMID: 19653274) Jesse S … Menke A (International journal of cancer 2010) 3 4 22 58
  2. Regulation of lymphoid enhancer factor 1/T-cell factor by mitogen-activated protein kinase-related Nemo-like kinase-dependent phosphorylation in Wnt/beta-catenin signaling. (PMID: 12556497) Ishitani T … Matsumoto K (Molecular and cellular biology 2003) 3 4 22 58
  3. Beta-catenin-sensitive isoforms of lymphoid enhancer factor-1 are selectively expressed in colon cancer. (PMID: 11326276) Hovanes K … Waterman ML (Nature genetics 2001) 3 4 22 58
  4. The human LEF-1 gene contains a promoter preferentially active in lymphocytes and encodes multiple isoforms derived from alternative splicing. (PMID: 10756202) Hovanes K … Waterman ML (Nucleic acids research 2000) 3 4 22 58
  5. ALY, a context-dependent coactivator of LEF-1 and AML-1, is required for TCRalpha enhancer function. (PMID: 9119228) Bruhn L … Grosschedl R (Genes & development 1997) 3 4 22 58

Products for LEF1 Gene

  • Addgene plasmids for LEF1

Sources for LEF1 Gene

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