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Protein

Transducin-like enhancer protein 6

Gene

TLE6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • embryonic process involved in female pregnancy Source: UniProtKB
  • regulation of transcription, DNA-templated Source: InterPro

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

EuPathDBiHostDB:ENSG00000104953.18
HGNCiHGNC:30788 TLE6
MIMi612399 gene
neXtProtiNX_Q9H808

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Preimplantation embryonic lethality 1 (PREMBL1)1 Publication
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. Inheritance is autosomal recessive.
See also OMIM:616814
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076246510S → Y in PREMBL1; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP. 1 PublicationCorresponds to variant dbSNP:rs767222404EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi79816
MalaCardsiTLE6
MIMi616814 phenotype
OpenTargetsiENSG00000104953
PharmGKBiPA134948893

Polymorphism and mutation databases

BioMutaiTLE6
DMDMi519668658

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000512861 – 572Transducin-like enhancer protein 6Add BLAST572

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei510Phosphoserine; by PKA1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9H808
PeptideAtlasiQ9H808
PRIDEiQ9H808

PTM databases

iPTMnetiQ9H808
PhosphoSitePlusiQ9H808

Expressioni

Gene expression databases

BgeeiENSG00000104953
CleanExiHS_TLE6
ExpressionAtlasiQ9H808 baseline and differential
GenevisibleiQ9H808 HS

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi122911, 1 interactor
IntActiQ9H808, 2 interactors
STRINGi9606.ENSP00000246112

Structurei

3D structure databases

ProteinModelPortaliQ9H808
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati284 – 322WD 1Add BLAST39
Repeati332 – 372WD 2Add BLAST41
Repeati377 – 416WD 3Add BLAST40
Repeati419 – 456WD 4Add BLAST38
Repeati458 – 497WD 5Add BLAST40
Repeati499 – 538WD 6Add BLAST40
Repeati540 – 571WD 7Add BLAST32

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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0639 Eukaryota
ENOG410XPX3 LUCA
GeneTreeiENSGT00550000074465
HOGENOMiHOG000154599
HOVERGENiHBG014064
InParanoidiQ9H808
OMAiWDLRDQS
OrthoDBiEOG091G0FSZ
PhylomeDBiQ9H808
TreeFamiTF314167

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR009146 Groucho_enhance
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PRINTSiPR01850 GROUCHOFAMLY
SMARTiView protein in SMART
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_076246510S → Y in PREMBL1; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP. 1 PublicationCorresponds to variant dbSNP:rs767222404EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0472161 – 123Missing in isoform 2. 2 PublicationsAdd BLAST123

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

Similar proteinsi

Entry informationi

Entry nameiTLE6_HUMAN
AccessioniPrimary (citable) accession number: Q9H808
Secondary accession number(s): J3KMZ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: June 26, 2013
Last modified: April 25, 2018
This is version 135 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health