LEF1
entrez
51176
canonical
uniprot
Q9UJU2
canonical
ensembl
ENSG00000138795
resolver
ensp
ENSP00000265165
resolver
ensp
ENSP00000369284
resolver
ensp
ENSP00000406176
resolver
ensp
ENSP00000422840
resolver
ensp
ENSP00000668329
resolver
genesymbol
LEF1
resolver
hgnc
HGNC:6551
resolver
uniprot
B4DG38
resolver
uniprot
B7Z8E2
resolver
uniprot
E9PDK3
resolver
uniprot
Q3ZCU4
resolver
uniprot
Q9HAZ0
resolver
uniprot_entry
LEF1_HUMAN
resolver
uniprot_sec
B4DG38
resolver
uniprot_sec
B7Z8E2
resolver
uniprot_sec
E9PDK3
resolver
uniprot_sec
Q3ZCU4
resolver
uniprot_sec
Q9HAZ0
resolver
amino_acid_sequence
MPQLSGGGGGGGGDPELCATDEMIPFKDEGDPQKEKIFAEISHPEEEGDLADIKSSLVNESEIIPASNGHEVARQAQTSQEPYHDKAREHPDDGKHPDGGLYNKGPSYSSYSGYIMMPNMNNDPYMSNGSLSPPIPRTSNKVPVVQPSHAVHPLTPLITYSDEHFSPGSHPSHIPSDVNSKQGMSRHPPAPDIPTFYPLSPGGVGQITPPLGWQGQPVYPITGGFRQPYPSSLSVDTSMSRFSHHMIPGPPGPHTTGIPHPAIVTPQVKQEHPHTDSDLMHVKPQHEQRKEQEPKRPHIKKPLNAFMLYMKEMRANVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHMQLYPGWSARDNYGKKKKRKREKLQESASGTGPRMTAAYI
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 17 with or without limb malformations (ECTD17) [MIM:621224]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD17 is an autosomal dominant form characterized by hypohidrosis, dry skin, hair and tooth anomalies, and slow nail growth. Some patients have limb abnormalities such as radial ray defects, polydactyly, syndactyly, and split hand/foot malformation. {ECO:0000269|PubMed:35583550, ECO:0000269|PubMed:39107921}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1 (PubMed:11266540). Regulates T-cell receptor alpha enhancer function (PubMed:19653274). Required for IL17A expressing gamma-delta T-cell maturation and development, via binding to regulator loci of BLK to modulate expression (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity). May play a role in hair cell differentiation and follicle morphogenesis (By similarity). {ECO:0000250|UniProtKB:P27782, ECO:0000269|PubMed:11266540, ECO:0000269|PubMed:19653274, ECO:0000269|PubMed:2010090}.; FUNCTION: [Isoform 1]: Transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells. {ECO:0000269|PubMed:19653274}.; FUNCTION: [Isoform 3]: Lacks the CTNNB1 interaction domain and may therefore be an antagonist for Wnt signaling. {ECO:0000269|PubMed:11326276}.; FUNCTION: [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. {ECO:0000269|PubMed:19653274}.
uniprot
proteins
mass_dalton
44201
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="T->A: Reduced phosphorylation by NLK; when associated with A-166."; /evidence="ECO:0000269|PubMed:12556497"; MUTAGEN 166; /note="S->A: Reduced phosphorylation by NLK; when associated with A-155."; /evidence="ECO:0000269|PubMed:12556497
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000269|PubMed:12556497}.
uniprot
proteins
protein_family
TCF/LEF family
uniprot
proteins
pubmed
10756202
uniprot
proteins
pubmed
11266540
uniprot
proteins
pubmed
11326276
uniprot
proteins
pubmed
12192039
uniprot
proteins
pubmed
12556497
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19304756
uniprot
proteins
pubmed
19653274
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
2010090
uniprot
proteins
pubmed
35583550
uniprot
proteins
pubmed
39107921
uniprot
proteins
pubmed
9119228
uniprot
proteins
pubmed
9488439
uniprot
proteins
pubmed
9751710
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}. Note=Found in nuclear bodies upon PIASG binding. {ECO:0000250}.
uniprot
proteins