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Protein

Transducin-like enhancer protein 6

Gene

TLE6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.1 Publication

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transducin-like enhancer protein 6
Gene namesi
Name:TLE6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:30788. TLE6.

Subcellular locationi

  • Cytoplasm

  • Note: In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Preimplantation embryonic lethality (PREMBL)
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
See also OMIM:616814
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti510 – 5101S → Y in PREMBL; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP. 1 Publication
VAR_076246

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616814. phenotype.
PharmGKBiPA134948893.

Polymorphism and mutation databases

BioMutaiTLE6.
DMDMi519668658.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 572572Transducin-like enhancer protein 6PRO_0000051286Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei510 – 5101Phosphoserine; by PKA1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9H808.
PeptideAtlasiQ9H808.
PRIDEiQ9H808.

PTM databases

iPTMnetiQ9H808.
PhosphoSiteiQ9H808.

Expressioni

Gene expression databases

BgeeiENSG00000104953.
CleanExiHS_TLE6.
ExpressionAtlasiQ9H808. baseline and differential.
GenevisibleiQ9H808. HS.

Organism-specific databases

HPAiCAB025371.

Interactioni

Subunit structurei

Component of the SCMC which also includes at least KHDC3L, NLRP5 and OOEP.1 Publication

Protein-protein interaction databases

BioGridi122911. 1 interaction.
IntActiQ9H808. 2 interactions.
STRINGi9606.ENSP00000246112.

Structurei

3D structure databases

ProteinModelPortaliQ9H808.
SMRiQ9H808. Positions 261-572.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati284 – 32239WD 1Add
BLAST
Repeati332 – 37241WD 2Add
BLAST
Repeati377 – 41640WD 3Add
BLAST
Repeati419 – 45638WD 4Add
BLAST
Repeati458 – 49740WD 5Add
BLAST
Repeati499 – 53840WD 6Add
BLAST
Repeati540 – 57132WD 7Add
BLAST

Domaini

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.1 Publication

Sequence similaritiesi

Belongs to the WD repeat Groucho/TLE family.Curated
Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0639. Eukaryota.
ENOG410XPX3. LUCA.
GeneTreeiENSGT00550000074465.
HOGENOMiHOG000154599.
HOVERGENiHBG014064.
InParanoidiQ9H808.
OMAiAVPCKLE.
OrthoDBiEOG091G0FSZ.
PhylomeDBiQ9H808.
TreeFamiTF314167.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR009146. Groucho_enhance.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PRINTSiPR01850. GROUCHOFAMLY.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H808-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MTSRDQPRPK GPPKSTSPCP GISNSESSPT LNYQGILNRL KQFPRFSPHF
60 70 80 90 100
AAELESIYYS LHKIQQDVAE HHKQIGNVLQ IVESCSQLQG FQSEEVSPAE
110 120 130 140 150
PASPGTPQQV KDKTLQESSF EDIMATRSSD WLRRPLGEDN QPETQLFWDK
160 170 180 190 200
EPWFWHDTLT EQLWRIFAGV HDEKAKPRDR QQAPGLGQES KAPGSCDPGT
210 220 230 240 250
DPCPEDASTP RPPEASSSPP EGSQDRNTSW GVVQEPPGRA SRFLQSISWD
260 270 280 290 300
PEDFEDAWKR PDALPGQSKR LAVPCKLEKM RILAHGELVL ATAISSFTRH
310 320 330 340 350
VFTCGRRGIK VWSLTGQVAE DRFPESHLPI QTPGAFLRTC LLSSNSRSLL
360 370 380 390 400
TGGYNLASVS VWDLAAPSLH VKEQLPCAGL NCQALDANLD ANLAFASFTS
410 420 430 440 450
GVVRIWDLRD QSVVRDLKGY PDGVKSIVVK GYNIWTGGPD ACLRCWDQRT
460 470 480 490 500
IMKPLEYQFK SQIMSLSHSP QEDWVLLGMA NGQQWLQSTS GSQRHMVGQK
510 520 530 540 550
DSVILSVKFS PFGQWWASVG MDDFLGVYSM PAGTKVFEVP EMSPVTCCDV
560 570
SSNNRLVVTG SGEHASVYQI TY
Length:572
Mass (Da):63,473
Last modified:June 26, 2013 - v2
Checksum:i4C9FF29BEB7DF9FF
GO
Isoform 2 (identifier: Q9H808-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.

Show »
Length:449
Mass (Da):49,827
Checksum:i7C53D2AC9DF5B629
GO

Sequence cautioni

The sequence AAH20206 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti510 – 5101S → Y in PREMBL; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP. 1 Publication
VAR_076246

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 123123Missing in isoform 2. 2 PublicationsVSP_047216Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024071 mRNA. Translation: BAB14815.1.
AC006277 Genomic DNA. No translation available.
AC007766 Genomic DNA. No translation available.
BC007215 mRNA. Translation: AAH07215.1.
BC020206 mRNA. Translation: AAH20206.1. Different initiation.
CCDSiCCDS12100.1. [Q9H808-2]
CCDS45910.1. [Q9H808-1]
RefSeqiNP_001137458.1. NM_001143986.1. [Q9H808-1]
NP_079036.1. NM_024760.2. [Q9H808-2]
XP_005259702.1. XM_005259645.2. [Q9H808-1]
XP_011526602.1. XM_011528300.2. [Q9H808-1]
XP_011526603.1. XM_011528301.1. [Q9H808-2]
UniGeneiHs.334507.

Genome annotation databases

EnsembliENST00000246112; ENSP00000246112; ENSG00000104953. [Q9H808-1]
ENST00000452088; ENSP00000406893; ENSG00000104953. [Q9H808-2]
GeneIDi79816.
KEGGihsa:79816.
UCSCiuc002lwt.3. human. [Q9H808-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024071 mRNA. Translation: BAB14815.1.
AC006277 Genomic DNA. No translation available.
AC007766 Genomic DNA. No translation available.
BC007215 mRNA. Translation: AAH07215.1.
BC020206 mRNA. Translation: AAH20206.1. Different initiation.
CCDSiCCDS12100.1. [Q9H808-2]
CCDS45910.1. [Q9H808-1]
RefSeqiNP_001137458.1. NM_001143986.1. [Q9H808-1]
NP_079036.1. NM_024760.2. [Q9H808-2]
XP_005259702.1. XM_005259645.2. [Q9H808-1]
XP_011526602.1. XM_011528300.2. [Q9H808-1]
XP_011526603.1. XM_011528301.1. [Q9H808-2]
UniGeneiHs.334507.

3D structure databases

ProteinModelPortaliQ9H808.
SMRiQ9H808. Positions 261-572.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122911. 1 interaction.
IntActiQ9H808. 2 interactions.
STRINGi9606.ENSP00000246112.

PTM databases

iPTMnetiQ9H808.
PhosphoSiteiQ9H808.

Polymorphism and mutation databases

BioMutaiTLE6.
DMDMi519668658.

Proteomic databases

PaxDbiQ9H808.
PeptideAtlasiQ9H808.
PRIDEiQ9H808.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000246112; ENSP00000246112; ENSG00000104953. [Q9H808-1]
ENST00000452088; ENSP00000406893; ENSG00000104953. [Q9H808-2]
GeneIDi79816.
KEGGihsa:79816.
UCSCiuc002lwt.3. human. [Q9H808-1]

Organism-specific databases

CTDi79816.
GeneCardsiTLE6.
HGNCiHGNC:30788. TLE6.
HPAiCAB025371.
MIMi612399. gene.
616814. phenotype.
neXtProtiNX_Q9H808.
PharmGKBiPA134948893.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0639. Eukaryota.
ENOG410XPX3. LUCA.
GeneTreeiENSGT00550000074465.
HOGENOMiHOG000154599.
HOVERGENiHBG014064.
InParanoidiQ9H808.
OMAiAVPCKLE.
OrthoDBiEOG091G0FSZ.
PhylomeDBiQ9H808.
TreeFamiTF314167.

Miscellaneous databases

GenomeRNAii79816.
PROiQ9H808.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104953.
CleanExiHS_TLE6.
ExpressionAtlasiQ9H808. baseline and differential.
GenevisibleiQ9H808. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR009146. Groucho_enhance.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PRINTSiPR01850. GROUCHOFAMLY.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTLE6_HUMAN
AccessioniPrimary (citable) accession number: Q9H808
Secondary accession number(s): J3KMZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: June 26, 2013
Last modified: September 7, 2016
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.