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Q8VD72 (TTC8_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tetratricopeptide repeat protein 8

Short name=TPR repeat protein 8
Alternative name(s):
Bardet-Biedl syndrome 8 protein homolog
Gene names
Name:Ttc8
Synonyms:Bbs8
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length515 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B. Ref.4

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole By similarity. Cell projectioncilium membrane By similarity. Cytoplasm By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity.

Tissue specificity

Isoform 1 is retina-specific whereas isoform 2 is ubiquitously expressed. Ref.5

Developmental stage

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. Ref.3

Sequence similarities

Contains 8 TPR repeats.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
   DomainRepeat
TPR repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Inferred from genetic interaction PubMed 21646512. Source: MGI

camera-type eye photoreceptor cell differentiation

Inferred from mutant phenotype PubMed 21646512. Source: MGI

cilium assembly

Inferred from mutant phenotype PubMed 22479622. Source: FlyBase

establishment of anatomical structure orientation

Inferred from electronic annotation. Source: Ensembl

fat cell differentiation

Inferred from expression pattern PubMed 17379567. Source: BHF-UCL

multicellular organism growth

Inferred from mutant phenotype PubMed 21646512. Source: MGI

nonmotile primary cilium assembly

Inferred from electronic annotation. Source: InterPro

olfactory bulb development

Inferred from mutant phenotype PubMed 21646512. Source: MGI

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of protein localization

Inferred from mutant phenotype PubMed 21646512. Source: MGI

renal tubule development

Inferred from mutant phenotype PubMed 21646512. Source: MGI

sensory perception of smell

Inferred from mutant phenotype PubMed 21646512. Source: MGI

   Cellular_componentBBSome

Inferred from direct assay PubMed 20080638PubMed 22500027. Source: MGI

centriole

Inferred from electronic annotation. Source: UniProtKB-SubCell

ciliary basal body

Inferred from sequence orthology PubMed 22922713. Source: MGI

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

photoreceptor connecting cilium

Inferred from direct assay Ref.3. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8VD72-1)

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.
Isoform 2 (identifier: Q8VD72-2)

The sequence of this isoform differs from the canonical sequence as follows:
     38-47: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 515515Tetratricopeptide repeat protein 8
PRO_0000106389

Regions

Repeat4 – 3734TPR 1
Repeat225 – 25834TPR 2
Repeat259 – 29133TPR 3
Repeat292 – 32534TPR 4
Repeat326 – 35934TPR 5
Repeat360 – 39334TPR 6
Repeat397 – 43034TPR 7
Repeat432 – 46433TPR 8

Natural variations

Alternative sequence38 – 4710Missing in isoform 2.
VSP_007825

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 9A8ACDF59BB641C1

FASTA51558,440
        10         20         30         40         50         60 
MGSEMEPLLR AWSYFRRRKF QLCADLCTQM LEKSPYDQEP APDLPVSQAA WILKARALTE 

        70         80         90        100        110        120 
MVYIDEIDVD QEGIAEMILD ENAIAQVPRP GTSLKLPGTN QTGGPTQAVR PITQAGRPIT 

       130        140        150        160        170        180 
GFLRPSTQSG RPGTMEQAIR TPRTAYTARP ITSSSGRFVR LGTASMLTSP DGPFINLSRL 

       190        200        210        220        230        240 
NLTKYSQKPK LAKALFEYIL HHENDVKMAL DLASLSTEYS QYKDWWWKVQ IGKCYYRLGM 

       250        260        270        280        290        300 
YREAEKQFKS ALKQQEMVDT FLYLAKVYII LDQPVTALNL FKQGLDKFPG EVTLLCGIAR 

       310        320        330        340        350        360 
IYEEMNNSSS AAEYYKEVLK QDNTHVEAIA CIGSNHFYSD QPEVALRFYR RLLQMGVYNC 

       370        380        390        400        410        420 
QLFNNLGLCC FYAQQYDMTL TSFERALSLA ENEEEAADVW YNLGHIAVGI GDTNLAHQCF 

       430        440        450        460        470        480 
RLALVHNNHH AEAYNNLAVL EMRKGHVEQA RALLQTASSL APHMYEPHFN FATVSDKIGD 

       490        500        510 
LQRSYVAAQK SEVAFPEHVD TQHLIKQLKQ HFAML 

« Hide

Isoform 2 [UniParc].

Checksum: 9B13D8F8D9EB4F22
Show »

FASTA50557,406

References

« Hide 'large scale' references
[1]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Strain: C57BL/6J.
Tissue: Head and Kidney.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Strain: C57BL/6J.
Tissue: Retina.
[3]"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome."
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., Kim J.C., Ross A.J., Eichers E.R., Teslovich T.M., Mah A.K., Johnsen R.C., Cavender J.C., Lewis R.A., Leroux M.R., Beales P.L., Katsanis N.
Nature 425:628-633(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: DEVELOPMENTAL STAGE.
[4]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE BBSOME COMPLEX.
[5]"A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa."
Riazuddin S.A., Iqbal M., Wang Y., Masuda T., Chen Y., Bowne S., Sullivan L.S., Waseem N.H., Bhattacharya S., Daiger S.P., Zhang K., Khan S.N., Riazuddin S., Hejtmancik J.F., Sieving P.A., Zack D.J., Katsanis N.
Am. J. Hum. Genet. 86:805-812(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF ISOFORM 2, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK002597 mRNA. Translation: BAB22218.1.
AK081697 mRNA. Translation: BAC38298.1.
BC017523 mRNA. Translation: AAH17523.1.
RefSeqNP_083829.1. NM_029553.3.
NP_938053.1. NM_198311.1.
UniGeneMm.282660.

3D structure databases

ProteinModelPortalQ8VD72.
SMRQ8VD72. Positions 231-497.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-60354N.
IntActQ8VD72. 3 interactions.
STRING10090.ENSMUSP00000078148.

PTM databases

PhosphoSiteQ8VD72.

Proteomic databases

PaxDbQ8VD72.
PRIDEQ8VD72.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000079146; ENSMUSP00000078148; ENSMUSG00000021013. [Q8VD72-1]
ENSMUST00000085109; ENSMUSP00000082190; ENSMUSG00000021013. [Q8VD72-2]
GeneID76260.
KEGGmmu:76260.
UCSCuc007oro.2. mouse. [Q8VD72-1]
uc007orp.2. mouse. [Q8VD72-2]

Organism-specific databases

CTD123016.
MGIMGI:1923510. Ttc8.

Phylogenomic databases

eggNOGNOG276935.
GeneTreeENSGT00530000063455.
HOGENOMHOG000255572.
HOVERGENHBG044570.
InParanoidQ8VD72.
KOK16781.
OMALAYQCFK.
OrthoDBEOG7VQJDN.
PhylomeDBQ8VD72.
TreeFamTF314892.

Gene expression databases

ArrayExpressQ8VD72.
BgeeQ8VD72.
CleanExMM_TTC8.
GenevestigatorQ8VD72.

Family and domain databases

Gene3D1.25.40.10. 5 hits.
InterProIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view]
PANTHERPTHR23083:SF14. PTHR23083:SF14. 1 hit.
PfamPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 5 hits.
[Graphical view]
PROSITEPS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio344869.
PROQ8VD72.
SOURCESearch...

Entry information

Entry nameTTC8_MOUSE
AccessionPrimary (citable) accession number: Q8VD72
Secondary accession number(s): Q9DCP7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

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