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Protein

Tetratricopeptide repeat protein 8

Gene

Ttc8

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • axon guidance Source: MGI
  • camera-type eye photoreceptor cell differentiation Source: MGI
  • cilium assembly Source: FlyBase
  • establishment of anatomical structure orientation Source: MGI
  • establishment of planar polarity Source: MGI
  • establishment of protein localization to plasma membrane Source: MGI
  • fat cell differentiation Source: BHF-UCL
  • inner ear receptor stereocilium organization Source: MGI
  • multicellular organism growth Source: MGI
  • multi-ciliated epithelial cell differentiation Source: MGI
  • negative regulation of GTPase activity Source: MGI
  • olfactory bulb development Source: MGI
  • protein transport Source: UniProtKB-KW
  • regulation of protein localization Source: MGI
  • regulation of stress fiber assembly Source: MGI
  • renal tubule development Source: MGI
  • sensory perception of smell Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-MMU-5620922. BBSome-mediated cargo-targeting to cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 8
Short name:
TPR repeat protein 8
Alternative name(s):
Bardet-Biedl syndrome 8 protein homolog
Gene namesi
Name:Ttc8
Synonyms:Bbs8
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 12

Organism-specific databases

MGIiMGI:1923510. Ttc8.

Subcellular locationi

GO - Cellular componenti

  • BBSome Source: UniProtKB
  • centriole Source: UniProtKB-SubCell
  • centrosome Source: MGI
  • ciliary basal body Source: MGI
  • ciliary membrane Source: UniProtKB-SubCell
  • cilium Source: UniProtKB
  • membrane Source: MGI
  • photoreceptor connecting cilium Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063891 – 515Tetratricopeptide repeat protein 8Add BLAST515

Proteomic databases

PaxDbiQ8VD72.
PRIDEiQ8VD72.

PTM databases

iPTMnetiQ8VD72.
PhosphoSitePlusiQ8VD72.

Expressioni

Tissue specificityi

Isoform 1 is retina-specific whereas isoform 2 is ubiquitously expressed.1 Publication

Developmental stagei

Expressed at 12 dpc in ciliated structures, including maturing (stages X and XI) spermatids, the connecting cilium of the retina and bronchial epithelial cells. At 14 and 16 dpc, detected in the telencephalon, with prominent expression at the developing ependymal cell layer and the olfactory epithelium.1 Publication

Gene expression databases

BgeeiENSMUSG00000021013.
CleanExiMM_TTC8.
ExpressionAtlasiQ8VD72. baseline and differential.
GenevisibleiQ8VD72. MM.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B. Interacts with PKD1.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

DIPiDIP-60354N.
IntActiQ8VD72. 3 interactors.
STRINGi10090.ENSMUSP00000078148.

Structurei

3D structure databases

ProteinModelPortaliQ8VD72.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati4 – 37TPR 1Add BLAST34
Repeati225 – 258TPR 2Add BLAST34
Repeati259 – 291TPR 3Add BLAST33
Repeati292 – 325TPR 4Add BLAST34
Repeati326 – 359TPR 5Add BLAST34
Repeati360 – 393TPR 6Add BLAST34
Repeati397 – 430TPR 7Add BLAST34
Repeati432 – 464TPR 8Add BLAST33

Sequence similaritiesi

Contains 8 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1129. Eukaryota.
ENOG410Z814. LUCA.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000255572.
HOVERGENiHBG044570.
InParanoidiQ8VD72.
KOiK16781.
OMAiNHFYTDQ.
OrthoDBiEOG091G0FBF.
PhylomeDBiQ8VD72.
TreeFamiTF314892.

Family and domain databases

Gene3Di1.25.40.10. 5 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8VD72-1) [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
MGSEMEPLLR AWSYFRRRKF QLCADLCTQM LEKSPYDQEP APDLPVSQAA
60 70 80 90 100
WILKARALTE MVYIDEIDVD QEGIAEMILD ENAIAQVPRP GTSLKLPGTN
110 120 130 140 150
QTGGPTQAVR PITQAGRPIT GFLRPSTQSG RPGTMEQAIR TPRTAYTARP
160 170 180 190 200
ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK LAKALFEYIL
210 220 230 240 250
HHENDVKMAL DLASLSTEYS QYKDWWWKVQ IGKCYYRLGM YREAEKQFKS
260 270 280 290 300
ALKQQEMVDT FLYLAKVYII LDQPVTALNL FKQGLDKFPG EVTLLCGIAR
310 320 330 340 350
IYEEMNNSSS AAEYYKEVLK QDNTHVEAIA CIGSNHFYSD QPEVALRFYR
360 370 380 390 400
RLLQMGVYNC QLFNNLGLCC FYAQQYDMTL TSFERALSLA ENEEEAADVW
410 420 430 440 450
YNLGHIAVGI GDTNLAHQCF RLALVHNNHH AEAYNNLAVL EMRKGHVEQA
460 470 480 490 500
RALLQTASSL APHMYEPHFN FATVSDKIGD LQRSYVAAQK SEVAFPEHVD
510
TQHLIKQLKQ HFAML
Length:515
Mass (Da):58,440
Last modified:March 1, 2002 - v1
Checksum:i9A8ACDF59BB641C1
GO
Isoform 2 (identifier: Q8VD72-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-47: Missing.

Note: No experimental confirmation available.
Show »
Length:505
Mass (Da):57,406
Checksum:i9B13D8F8D9EB4F22
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00782538 – 47Missing in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002597 mRNA. Translation: BAB22218.1.
AK081697 mRNA. Translation: BAC38298.1.
BC017523 mRNA. Translation: AAH17523.1.
CCDSiCCDS26101.1. [Q8VD72-2]
CCDS26102.1. [Q8VD72-1]
RefSeqiNP_083829.1. NM_029553.3. [Q8VD72-2]
NP_938053.1. NM_198311.1. [Q8VD72-1]
UniGeneiMm.282660.

Genome annotation databases

EnsembliENSMUST00000079146; ENSMUSP00000078148; ENSMUSG00000021013. [Q8VD72-1]
ENSMUST00000085109; ENSMUSP00000082190; ENSMUSG00000021013. [Q8VD72-2]
GeneIDi76260.
KEGGimmu:76260.
UCSCiuc007oro.2. mouse. [Q8VD72-1]
uc007orp.2. mouse. [Q8VD72-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002597 mRNA. Translation: BAB22218.1.
AK081697 mRNA. Translation: BAC38298.1.
BC017523 mRNA. Translation: AAH17523.1.
CCDSiCCDS26101.1. [Q8VD72-2]
CCDS26102.1. [Q8VD72-1]
RefSeqiNP_083829.1. NM_029553.3. [Q8VD72-2]
NP_938053.1. NM_198311.1. [Q8VD72-1]
UniGeneiMm.282660.

3D structure databases

ProteinModelPortaliQ8VD72.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-60354N.
IntActiQ8VD72. 3 interactors.
STRINGi10090.ENSMUSP00000078148.

PTM databases

iPTMnetiQ8VD72.
PhosphoSitePlusiQ8VD72.

Proteomic databases

PaxDbiQ8VD72.
PRIDEiQ8VD72.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000079146; ENSMUSP00000078148; ENSMUSG00000021013. [Q8VD72-1]
ENSMUST00000085109; ENSMUSP00000082190; ENSMUSG00000021013. [Q8VD72-2]
GeneIDi76260.
KEGGimmu:76260.
UCSCiuc007oro.2. mouse. [Q8VD72-1]
uc007orp.2. mouse. [Q8VD72-2]

Organism-specific databases

CTDi123016.
MGIiMGI:1923510. Ttc8.

Phylogenomic databases

eggNOGiKOG1129. Eukaryota.
ENOG410Z814. LUCA.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000255572.
HOVERGENiHBG044570.
InParanoidiQ8VD72.
KOiK16781.
OMAiNHFYTDQ.
OrthoDBiEOG091G0FBF.
PhylomeDBiQ8VD72.
TreeFamiTF314892.

Enzyme and pathway databases

ReactomeiR-MMU-5620922. BBSome-mediated cargo-targeting to cilium.

Miscellaneous databases

PROiQ8VD72.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000021013.
CleanExiMM_TTC8.
ExpressionAtlasiQ8VD72. baseline and differential.
GenevisibleiQ8VD72. MM.

Family and domain databases

Gene3Di1.25.40.10. 5 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 7 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTTC8_MOUSE
AccessioniPrimary (citable) accession number: Q8VD72
Secondary accession number(s): Q9DCP7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: March 1, 2002
Last modified: November 2, 2016
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.