Q8VD72 (TTC8_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	515 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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 By similarity.
Subunit structure	Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with PCM1 By similarity. Interacts with CCDC28B By similarity.
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole By similarity. Cell projection › cilium membrane By similarity. Cytoplasm By similarity. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm By similarity.
Tissue specificity	Isoform 1 is retina-specific whereas isoform 2 is ubiquitously expressed. Ref.4
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 process	Cilium biogenesis/degradation
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon 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 21646512. Source: MGI establishment of anatomical structure orientation Inferred from electronic annotation. Source: Compara fat cell differentiation Inferred from expression pattern PubMed 17379567. Source: BHF-UCL multicellular organism growth Inferred from mutant phenotype PubMed 21646512. Source: MGI olfactory bulb development Inferred from mutant phenotype PubMed 21646512. Source: MGI 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_component	BBSome Inferred from direct assay PubMed 20080638PubMed 22500027. Source: MGI centriole Inferred from electronic annotation. Source: UniProtKB-SubCell cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule basal body Inferred from electronic annotation. Source: Compara 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 515	515	Tetratricopeptide repeat protein 8		PRO_0000106389
Regions
	Repeat	4 – 37	34	TPR 1
	Repeat	225 – 258	34	TPR 2
	Repeat	259 – 291	33	TPR 3
	Repeat	292 – 325	34	TPR 4
	Repeat	326 – 359	34	TPR 5
	Repeat	360 – 393	34	TPR 6
	Repeat	397 – 430	34	TPR 7
	Repeat	432 – 464	33	TPR 8
Natural variations
	Alternative sequence	38 – 47	10	Missing in isoform 2.		VSP_007825

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 9A8ACDF59BB641C1	FASTA	515	58,440
	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
	Isoform 2 [UniParc]. Checksum: 9B13D8F8D9EB4F22	FASTA	505	57,406
	10 20 30 40 50 60 MGSEMEPLLR AWSYFRRRKF QLCADLCTQM LEKSPYDQAA WILKARALTE MVYIDEIDVD 70 80 90 100 110 120 QEGIAEMILD ENAIAQVPRP GTSLKLPGTN QTGGPTQAVR PITQAGRPIT GFLRPSTQSG 130 140 150 160 170 180 RPGTMEQAIR TPRTAYTARP ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK 190 200 210 220 230 240 LAKALFEYIL HHENDVKMAL DLASLSTEYS QYKDWWWKVQ IGKCYYRLGM YREAEKQFKS 250 260 270 280 290 300 ALKQQEMVDT FLYLAKVYII LDQPVTALNL FKQGLDKFPG EVTLLCGIAR IYEEMNNSSS 310 320 330 340 350 360 AAEYYKEVLK QDNTHVEAIA CIGSNHFYSD QPEVALRFYR RLLQMGVYNC QLFNNLGLCC 370 380 390 400 410 420 FYAQQYDMTL TSFERALSLA ENEEEAADVW YNLGHIAVGI GDTNLAHQCF RLALVHNNHH 430 440 450 460 470 480 AEAYNNLAVL EMRKGHVEQA RALLQTASSL APHMYEPHFN FATVSDKIGD LQRSYVAAQK 490 500 SEVAFPEHVD TQHLIKQLKQ HFAML

References

	« Hide 'large scale' referencesShow '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. , 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 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.
IPI	IPI00121142. IPI00165811.
RefSeq	NP_083829.1. NM_029553.3. NP_938053.1. NM_198311.1.
UniGene	Mm.282660.
3D structure databases
ProteinModelPortal	Q8VD72.
SMR	Q8VD72. Positions 200-497.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8VD72. 3 interactions.
STRING	10090.ENSMUSP00000078148.
PTM databases
PhosphoSite	Q8VD72.
Proteomic databases
PaxDb	Q8VD72.
PRIDE	Q8VD72.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000079146; ENSMUSP00000078148; ENSMUSG00000021013. ENSMUST00000085109; ENSMUSP00000082190; ENSMUSG00000021013.
GeneID	76260.
KEGG	mmu:76260.
UCSC	uc007oro.2. mouse. uc007orp.2. mouse.
Organism-specific databases
CTD	123016.
MGI	MGI:1923510. Ttc8.
Phylogenomic databases
eggNOG	NOG276935.
GeneTree	ENSGT00530000063455.
HOGENOM	HOG000255572.
HOVERGEN	HBG044570.
InParanoid	Q8VD72.
KO	K16781.
OMA	CYYRLGL.
OrthoDB	EOG4F4S9T.
Gene expression databases
ArrayExpress	Q8VD72.
Bgee	Q8VD72.
CleanEx	MM_TTC8.
Genevestigator	Q8VD72.
GermOnline	ENSMUSG00000021013. Mus musculus.
Family and domain databases
Gene3D	1.25.40.10. 5 hits.
InterPro	IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF07719. TPR_2. 1 hit. [Graphical view]
SMART	SM00028. TPR. 5 hits. [Graphical view]
PROSITE	PS50005. TPR. 6 hits. PS50293. TPR_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	344869.
SOURCE	Search...

Entry information

Entry name

TTC8_MOUSE

Accession

Primary (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:	May 1, 2013
This is version 99 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program