Q9H808 · TLE6_HUMAN
- ProteinTransducin-like enhancer protein 6
- GeneTLE6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids572 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
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).
Isoform 1
As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (PubMed:26537248).
Required for the formation of F-actin cytoplasmic lattices in oocytes which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity).
Required for the formation of F-actin cytoplasmic lattices in oocytes which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cell cortex | |
Cellular Component | cytoplasm | |
Cellular Component | nucleus | |
Cellular Component | protein-containing complex | |
Cellular Component | subcortical maternal complex | |
Cellular Component | transcription regulator complex | |
Molecular Function | transcription corepressor activity | |
Biological Process | actin filament organization | |
Biological Process | embryonic process involved in female pregnancy | |
Biological Process | endoplasmic reticulum localization | |
Biological Process | establishment of spindle localization | |
Biological Process | mitochondrion localization | |
Biological Process | negative regulation of canonical Wnt signaling pathway | |
Biological Process | negative regulation of transcription by RNA polymerase II | |
Biological Process | positive regulation of embryonic development | |
Biological Process | regulation of cell division |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTransducin-like enhancer protein 6
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9H808
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Oocyte/zygote/embryo maturation arrest 15 (OZEMA15)
- Note
- DescriptionA 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.
- See alsoMIM:616814
Natural variants in OZEMA15
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084162 | 74 | Q>H | in OZEMA15; uncertain significance | |
VAR_084163 | 130 | D>N | in OZEMA15; uncertain significance; dbSNP:rs769137034 | |
VAR_084164 | 240 | A>G | in OZEMA15; uncertain significance | |
VAR_084165 | 298 | T>R | in OZEMA15; uncertain significance | |
VAR_084166 | 338 | R>H | in OZEMA15; uncertain significance; dbSNP:rs763793074 | |
VAR_084167 | 409 | R>Q | in OZEMA15; uncertain significance; dbSNP:rs1310808966 | |
VAR_084168 | 446-572 | missing | in OZEMA15; uncertain significance | |
VAR_084169 | 503 | V>I | in OZEMA15; uncertain significance; dbSNP:rs551247575 | |
VAR_076246 | 510 | S>Y | in OZEMA15; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP; dbSNP:rs767222404 | |
VAR_084170 | 522 | D>H | in OZEMA15; uncertain significance | |
VAR_084171 | 541 | E>K | in OZEMA15; uncertain significance; dbSNP:rs1176718387 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_084162 | 74 | in OZEMA15; uncertain significance | |||
Sequence: Q → H | ||||||
Natural variant | VAR_084163 | 130 | in OZEMA15; uncertain significance; dbSNP:rs769137034 | |||
Sequence: D → N | ||||||
Natural variant | VAR_084164 | 240 | in OZEMA15; uncertain significance | |||
Sequence: A → G | ||||||
Natural variant | VAR_084165 | 298 | in OZEMA15; uncertain significance | |||
Sequence: T → R | ||||||
Natural variant | VAR_084166 | 338 | in OZEMA15; uncertain significance; dbSNP:rs763793074 | |||
Sequence: R → H | ||||||
Natural variant | VAR_084167 | 409 | in OZEMA15; uncertain significance; dbSNP:rs1310808966 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_084168 | 446-572 | in OZEMA15; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_084169 | 503 | in OZEMA15; uncertain significance; dbSNP:rs551247575 | |||
Sequence: V → I | ||||||
Natural variant | VAR_076246 | 510 | in OZEMA15; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP; dbSNP:rs767222404 | |||
Sequence: S → Y | ||||||
Natural variant | VAR_084170 | 522 | in OZEMA15; uncertain significance | |||
Sequence: D → H | ||||||
Natural variant | VAR_084171 | 541 | in OZEMA15; uncertain significance; dbSNP:rs1176718387 | |||
Sequence: E → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 778 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000051286 | 1-572 | Transducin-like enhancer protein 6 | |||
Sequence: MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFPRFSPHFAAELESIYYSLHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPASPGTPQQVKDKTLQESSFEDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLTEQLWRIFAGVHDEKAKPRDRQQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEPPGRASRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCKLEKMRILAHGELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPGAFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVKEQLPCAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLKGYPDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQFKSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMVGQKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVPEMSPVTCCDVSSNNRLVVTGSGEHASVYQITY | ||||||
Modified residue | 510 | Phosphoserine; by PKA | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Developmental stage
Isoform 1
Expressed in oocytes of the fetal ovary (PubMed:25542835).
Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835).
Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835).
Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
Isoform 2
Expressed in the fetal kidney.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimers (By similarity).
Interacts with FOXG1/BF-1; the interaction inhibits TLE1 interaction with FOXG1/BF-1 (By similarity).
Interacts with NFATC1 (By similarity).
Interacts with PAX6 (By similarity).
Interacts with FOXG1/BF-1; the interaction inhibits TLE1 interaction with FOXG1/BF-1 (By similarity).
Interacts with NFATC1 (By similarity).
Interacts with PAX6 (By similarity).
Isoform 1
Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3L, OOEP, and TLE6 isoform 1 (PubMed:25542835, PubMed:26537248).
Within the complex, interacts with NLRP5, KHDC3L and OOEP (PubMed:25542835, PubMed:26537248).
The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835).
As part of the SCMC interacts with the SCMC-associated protein ZBED3 (By similarity).
As part of the SCMC interacts with the SCMC-associated protein NLRP4F (By similarity).
As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1 (By similarity).
Within the complex, interacts with NLRP5, KHDC3L and OOEP (PubMed:25542835, PubMed:26537248).
The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835).
As part of the SCMC interacts with the SCMC-associated protein ZBED3 (By similarity).
As part of the SCMC interacts with the SCMC-associated protein NLRP4F (By similarity).
As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1 (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9H808 | BDNF P23560-2 | 3 | EBI-3921684, EBI-12275524 | |
BINARY | Q9H808 | KLK6 Q92876 | 3 | EBI-3921684, EBI-2432309 | |
BINARY | Q9H808-1 | KHDC3L Q587J8 | 2 | EBI-32711753, EBI-22731520 | |
BINARY | Q9H808-1 | NLRP5 P59047 | 2 | EBI-32711753, EBI-11071382 | |
BINARY | Q9H808-1 | OOEP A6NGQ2 | 2 | EBI-32711753, EBI-18583589 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-30 | Disordered | ||||
Sequence: MTSRDQPRPKGPPKSTSPCPGISNSESSPT | ||||||
Region | 92-121 | Disordered | ||||
Sequence: QSEEVSPAEPASPGTPQQVKDKTLQESSFE | ||||||
Compositional bias | 102-121 | Polar residues | ||||
Sequence: ASPGTPQQVKDKTLQESSFE | ||||||
Region | 174-236 | Disordered | ||||
Sequence: KAKPRDRQQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEP | ||||||
Repeat | 284-322 | WD 1 | ||||
Sequence: AHGELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDR | ||||||
Repeat | 332-372 | WD 2 | ||||
Sequence: TPGAFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVK | ||||||
Repeat | 377-416 | WD 3 | ||||
Sequence: CAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRD | ||||||
Repeat | 419-456 | WD 4 | ||||
Sequence: GYPDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLE | ||||||
Repeat | 458-497 | WD 5 | ||||
Sequence: QFKSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMV | ||||||
Repeat | 499-538 | WD 6 | ||||
Sequence: QKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFE | ||||||
Repeat | 540-571 | WD 7 | ||||
Sequence: PEMSPVTCCDVSSNNRLVVTGSGEHASVYQIT |
Domain
Contrary to other WD repeat Groucho/TLE family members, does not contain any identifiable Q, GP, CcN or SP domains. Only the C-terminal WD-repeat domain is conserved.
Sequence similarities
Belongs to the WD repeat Groucho/TLE family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9H808-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length572
- Mass (Da)63,473
- Last updated2013-06-26 v2
- Checksum4C9FF29BEB7DF9FF
Q9H808-2
- Name2
- Differences from canonical
- 1-123: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_047216 | 1-123 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 102-121 | Polar residues | ||||
Sequence: ASPGTPQQVKDKTLQESSFE |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK024071 EMBL· GenBank· DDBJ | BAB14815.1 EMBL· GenBank· DDBJ | mRNA | ||
AC006277 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC007766 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC007215 EMBL· GenBank· DDBJ | AAH07215.1 EMBL· GenBank· DDBJ | mRNA | ||
BC020206 EMBL· GenBank· DDBJ | AAH20206.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |