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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]
LEF1 (Lymphoid Enhancer Binding Factor 1) is a Protein Coding gene. Diseases associated with LEF1 include Pilomatrixoma and Severe Congenital Neutropenia. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 16344550 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 23001182 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA,IDA | 7657162 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 17063141 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IDA | 11751639 |
GO:0005737 | cytoplasm | IBA,IDA | 19402906 |
GO:0032993 | protein-DNA complex | IDA | 10825188 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endometrial cancer |
Signal transduction PTEN pathway
.44
.36
|
.32
|
2 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.41
|
|
3 | Gastric cancer |
.62
.62
|
|
4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
5 | Aldosterone synthesis and secretion |
.41
|
.41
|
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,IEA | -- |
GO:0001649 | osteoblast differentiation | IBA,IEP | 20128911 |
GO:0001756 | somitogenesis | IBA,IEA | -- |
GO:0001837 | epithelial to mesenchymal transition | IBA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ethacrynic acid | Approved, Investigational | Pharma | Target | 4 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LEF1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LEF1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LEF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LEF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lef1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lef1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LEF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LEF-1 31 |
|
OneToOne | |
LEF1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | LEF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lef1 30 |
|
||
Str.10421 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398238 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lef1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | pan 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pop-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11069 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1608 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
739485 | Benign: not provided | 108,083,452(-) | A/C | INTRON_VARIANT | |
773869 | Benign: not provided | 108,165,124(-) | C/T | MISSENSE_VARIANT | |
783383 | Benign: not provided | 108,163,655(-) | C/T | SYNONYMOUS_VARIANT | |
rs369649181 | A colorectal cancer sample | p.Gly113Arg |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pilomatrixoma |
|
|
severe congenital neutropenia |
|
|
colorectal cancer |
|
|
hair follicle neoplasm |
|
|
hyaline fibromatosis syndrome |
|
|