TLE6
entrez
79816
canonical
uniprot
Q9H808
canonical
ensembl
ENSG00000104953
resolver
ensp
ENSP00000246112
resolver
ensp
ENSP00000406893
resolver
ensp
ENSP00000628847
resolver
genesymbol
TLE6
resolver
hgnc
HGNC:30788
resolver
uniprot
A0A087X0R4
resolver
uniprot
J3KMZ1
resolver
uniprot
Q6PJM9
resolver
uniprot_entry
Q6PJM9_HUMAN
resolver
uniprot_entry
TLE6_HUMAN
resolver
uniprot_sec
A0A087X0R4
resolver
uniprot_sec
J3KMZ1
resolver
amino_acid_sequence
MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFPRFSPHFAAELESIYYSLHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPASPGTPQQVKDKTLQESSFEDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLTEQLWRIFAGVHDEKAKPRDRQQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEPPGRASRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCKLEKMRILAHGELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPGAFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVKEQLPCAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLKGYPDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQFKSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMVGQKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVPEMSPVTCCDVSSNNRLVVTGSGEHASVYQITY
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 15 (OZEMA15) [MIM:616814]: A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. {ECO:0000269|PubMed:26537248, ECO:0000269|PubMed:31897846, ECO:0000269|PubMed:33020905, ECO:0000269|PubMed:34178031, ECO:0000269|PubMed:36271123, ECO:0000269|PubMed:39379527, ECO:0000269|PubMed:39887367, ECO:0000269|PubMed:40225929}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (PubMed:26537248). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:41118754). They are required to store maternal proteins critical for embryonic development, such as ribosomal proteins, cytoskeletal tubulins and proteins controlling epigenetic reprogramming of the preimplantation embryo, in a poised but restrained state, regulating their availability for early embryonic development (By similarity). Cytoplasmic lattices also tightly control ubiquitination during the oocyte-to-embryo transition by trapping E3 ubiquitin-protein ligase UHRF1 in a compact autoinhibited conformation and maintaining SCF ubiquitin ligase complexes inactive (By similarity). TLE6 is also required for spermatogenesis: regulates spermatogonia proliferation and cell cycle progression, potentially via regulation of cell cycle regulatory genes such as; CEBPB, CEBPA, CSF3, PCNA, and CDK4 (By similarity). Suppresses FOXG1/BF-1-mediated transcriptional repression by inhibiting interaction of the transcriptional corepressor TLE1 with FOXG1 which promotes cortical neuron differentiation (By similarity). Acts as a transcriptional corepressor of NFATC1-mediated gene expression by contributing to PAX6-mediated repression (By similarity). {ECO:0000250|UniProtKB:Q9WVB3, ECO:0000269|PubMed:26537248, ECO:0000269|PubMed:41118754}.; FUNCTION: [Isoform 1]: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. {ECO:0000269|PubMed:26537248}.
uniprot
proteins
mass_dalton
63473
uniprot
proteins
protein_family
WD repeat Groucho/TLE family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18254933
uniprot
proteins
pubmed
25542835
uniprot
proteins
pubmed
26537248
uniprot
proteins
pubmed
31897846
uniprot
proteins
pubmed
33020905
uniprot
proteins
pubmed
34178031
uniprot
proteins
pubmed
36271123
uniprot
proteins
pubmed
37148315
uniprot
proteins
pubmed
37922900
uniprot
proteins
pubmed
39379527
uniprot
proteins
pubmed
39887367
uniprot
proteins
pubmed
40225929
uniprot
proteins
pubmed
41118754
uniprot
proteins
sequence_length
572
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:37922900}. Nucleus {ECO:0000250|UniProtKB:Q9WVB3}. Note=Core component of cytoplasmic lattices in oocytes. {ECO:0000269|PubMed:37922900}.; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:25542835}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:25542835}.
uniprot
proteins