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Q8VD72

- TTC8_MOUSE

UniProt

Q8VD72 - TTC8_MOUSE

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Protein

Tetratricopeptide repeat protein 8

Gene

Ttc8

Organism
Mus musculus (Mouse)
Status
Reviewed - 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 - Biological processi

  1. axon guidance Source: MGI
  2. camera-type eye photoreceptor cell differentiation Source: MGI
  3. cilium assembly Source: FlyBase
  4. establishment of anatomical structure orientation Source: Ensembl
  5. fat cell differentiation Source: BHF-UCL
  6. multicellular organism growth Source: MGI
  7. nonmotile primary cilium assembly Source: InterPro
  8. olfactory bulb development Source: MGI
  9. protein transport Source: UniProtKB-KW
  10. regulation of protein localization Source: MGI
  11. renal tubule development Source: MGI
  12. sensory perception of smell Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

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
ProteomesiUP000000589: Chromosome 12

Organism-specific databases

MGIiMGI:1923510. Ttc8.

Subcellular locationi

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. centrosome Source: Ensembl
  3. ciliary basal body Source: MGI
  4. cytoplasm Source: UniProtKB-KW
  5. photoreceptor connecting cilium Source: BHF-UCL
  6. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 515515Tetratricopeptide repeat protein 8PRO_0000106389Add
BLAST

Proteomic databases

MaxQBiQ8VD72.
PaxDbiQ8VD72.
PRIDEiQ8VD72.

PTM databases

PhosphoSiteiQ8VD72.

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

BgeeiQ8VD72.
CleanExiMM_TTC8.
ExpressionAtlasiQ8VD72. baseline and differential.
GenevestigatoriQ8VD72.

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.1 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ8VD72.
SMRiQ8VD72. Positions 11-37, 231-497.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati4 – 3734TPR 1Add
BLAST
Repeati225 – 25834TPR 2Add
BLAST
Repeati259 – 29133TPR 3Add
BLAST
Repeati292 – 32534TPR 4Add
BLAST
Repeati326 – 35934TPR 5Add
BLAST
Repeati360 – 39334TPR 6Add
BLAST
Repeati397 – 43034TPR 7Add
BLAST
Repeati432 – 46433TPR 8Add
BLAST

Sequence similaritiesi

Contains 8 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG276935.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000255572.
HOVERGENiHBG044570.
InParanoidiQ8VD72.
KOiK16781.
OMAiLAYQCFK.
OrthoDBiEOG7VQJDN.
PhylomeDBiQ8VD72.
TreeFamiTF314892.

Family and domain databases

Gene3Di1.25.40.10. 5 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view]
PANTHERiPTHR23083:SF39. PTHR23083:SF39. 1 hit.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 5 hits.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei38 – 4710Missing in isoform 2. 1 PublicationVSP_007825

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AK002597 mRNA. Translation: BAB22218.1 .
AK081697 mRNA. Translation: BAC38298.1 .
BC017523 mRNA. Translation: AAH17523.1 .
CCDSi CCDS26101.1. [Q8VD72-2 ]
CCDS26102.1. [Q8VD72-1 ]
RefSeqi NP_083829.1. NM_029553.3. [Q8VD72-2 ]
NP_938053.1. NM_198311.1. [Q8VD72-1 ]
UniGenei Mm.282660.

3D structure databases

ProteinModelPortali Q8VD72.
SMRi Q8VD72. Positions 11-37, 231-497.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-60354N.
IntActi Q8VD72. 3 interactions.
STRINGi 10090.ENSMUSP00000078148.

PTM databases

PhosphoSitei Q8VD72.

Proteomic databases

MaxQBi Q8VD72.
PaxDbi Q8VD72.
PRIDEi Q8VD72.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000079146 ; ENSMUSP00000078148 ; ENSMUSG00000021013 . [Q8VD72-1 ]
ENSMUST00000085109 ; ENSMUSP00000082190 ; ENSMUSG00000021013 . [Q8VD72-2 ]
GeneIDi 76260.
KEGGi mmu:76260.
UCSCi uc007oro.2. mouse. [Q8VD72-1 ]
uc007orp.2. mouse. [Q8VD72-2 ]

Organism-specific databases

CTDi 123016.
MGIi MGI:1923510. Ttc8.

Phylogenomic databases

eggNOGi NOG276935.
GeneTreei ENSGT00530000063455.
HOGENOMi HOG000255572.
HOVERGENi HBG044570.
InParanoidi Q8VD72.
KOi K16781.
OMAi LAYQCFK.
OrthoDBi EOG7VQJDN.
PhylomeDBi Q8VD72.
TreeFami TF314892.

Miscellaneous databases

NextBioi 344869.
PROi Q8VD72.
SOURCEi Search...

Gene expression databases

Bgeei Q8VD72.
CleanExi MM_TTC8.
ExpressionAtlasi Q8VD72. baseline and differential.
Genevestigatori Q8VD72.

Family and domain databases

Gene3Di 1.25.40.10. 5 hits.
InterProi IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
IPR028796. TTC8/BBS8.
[Graphical view ]
PANTHERi PTHR23083:SF39. PTHR23083:SF39. 1 hit.
Pfami PF07719. TPR_2. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 5 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 6 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: IDENTIFICATION OF ISOFORM 2, TISSUE SPECIFICITY.

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: October 29, 2014
This is version 112 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

External Data

Dasty 3