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Q8K2G4 (BBS7_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | 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:
Bardet-Biedl syndrome 7 protein homolog
Alternative name(s):
BBS2-like protein 1
Gene names
Name:Bbs7
Synonyms:Bbs2l1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length715 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 BBSome complex ciliary localization but not for the proper complex assembly By similarity.

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO. Ref.4

Subcellular location

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

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbrain development

Inferred from genetic interaction PubMed 22228099. Source: MGI

eye development

Inferred from genetic interaction PubMed 22228099. Source: MGI

fat cell differentiation

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

heart development

Inferred from genetic interaction PubMed 22228099. Source: MGI

limb development

Inferred from genetic interaction PubMed 22228099. Source: MGI

nonmotile primary cilium assembly

Inferred from electronic annotation. Source: InterPro

palate development

Inferred from genetic interaction PubMed 22228099. Source: MGI

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

Inferred from electronic annotation. Source: Ensembl

protein localization

Inferred from mutant phenotype PubMed 22228099. Source: MGI

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

smoothened signaling pathway

Inferred from genetic interaction PubMed 22228099. Source: MGI

   Cellular_componentBBSome

Inferred from direct assay PubMed 24550735. Source: UniProtKB

axoneme

Inferred from direct assay PubMed 22302990. Source: MGI

centrosome

Inferred from direct assay PubMed 22302990. Source: MGI

ciliary basal body

Inferred from direct assay PubMed 22302990. Source: MGI

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay PubMed 22302990. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8K2G4-1)

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: Q8K2G4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     56-57: PV → VM
Note: May be due to a competing donor splice site. No experimental confirmation available.
Isoform 3 (identifier: Q8K2G4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     116-161: ISGSDLFLSA...CLPVEKLSRV → VLFSFMFTYV...FRTWNQYTVD
     162-715: Missing.
Note: Due to intron retention. No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 715715Bardet-Biedl syndrome 7 protein homolog
PRO_0000064847

Amino acid modifications

Modified residue11N-acetylmethionine By similarity

Natural variations

Alternative sequence56 – 572PV → VM in isoform 2.
VSP_008851
Alternative sequence116 – 16146ISGSD…KLSRV → VLFSFMFTYVSIIHLIKLVY TSRFFWKRNLATGISLFRTW NQYTVD in isoform 3.
VSP_008852
Alternative sequence162 – 715554Missing in isoform 3.
VSP_008853

Sequences

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

Last modified October 1, 2002. Version 1.
Checksum: F7D8C284B04DA15B

FASTA71580,320
        10         20         30         40         50         60 
MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK KGEAVPVFKT 

        70         80         90        100        110        120 
LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 

       130        140        150        160        170        180 
LFLSASYIYN HYCDCKDQNY YLSGDKINDV ICLPVEKLSR VTPVLACQDR VLRVLQGSDV 

       190        200        210        220        230        240 
MYEIEVPGPP TVLALHNGDG GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG 

       250        260        270        280        290        300 
ILCVDSFDIM GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 

       310        320        330        340        350        360 
GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE HLQFKVLQER 

       370        380        390        400        410        420 
ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV RTAIDNVLIQ SDVPIDLLDV 

       430        440        450        460        470        480 
DKNSAVVSFS SCDTESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 

       490        500        510        520        530        540 
CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 

       550        560        570        580        590        600 
ATFYFQNTFL DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 

       610        620        630        640        650        660 
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL EEADHLQEEY 

       670        680        690        700        710 
KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL DSYDQNTLIS FFDAA 

« Hide

Isoform 2 [UniParc].

Checksum: F751315E44CAA589
Show »

FASTA71580,354
Isoform 3 [UniParc].

Checksum: BD4BB27542FF0053
Show »

FASTA16118,201

References

« Hide 'large scale' references
[1]"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2."
Badano J.L., Ansley S.J., Leitch C.C., Lewis R.A., Lupski J.R., Katsanis N.
Am. J. Hum. Genet. 72:650-658(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-584 (ISOFORM 1).
Strain: C57BL/6J.
Tissue: Embryonic lung and Liver.
[3]"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).
Tissue: Mammary tumor.
[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: INTERACTION WITH SMO, IDENTIFICATION IN THE BBSOME COMPLEX.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF521645 mRNA. Translation: AAO16027.1.
AK018389 mRNA. Translation: BAB31190.1.
AK050291 mRNA. Translation: BAC34169.1.
BC031505 mRNA. Translation: AAH31505.1.
CCDSCCDS17314.2. [Q8K2G4-1]
RefSeqNP_082086.2. NM_027810.3. [Q8K2G4-1]
UniGeneMm.286187.

3D structure databases

ProteinModelPortalQ8K2G4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-60353N.
IntActQ8K2G4. 4 interactions.

PTM databases

PhosphoSiteQ8K2G4.

Proteomic databases

MaxQBQ8K2G4.
PaxDbQ8K2G4.
PRIDEQ8K2G4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000040148; ENSMUSP00000047273; ENSMUSG00000037325. [Q8K2G4-2]
ENSMUST00000108156; ENSMUSP00000103791; ENSMUSG00000037325. [Q8K2G4-1]
GeneID71492.
KEGGmmu:71492.
UCSCuc008ozp.2. mouse. [Q8K2G4-2]
uc008ozq.2. mouse. [Q8K2G4-1]
uc008ozr.1. mouse. [Q8K2G4-3]

Organism-specific databases

CTD55212.
MGIMGI:1918742. Bbs7.

Phylogenomic databases

eggNOGNOG72192.
GeneTreeENSGT00390000012346.
HOGENOMHOG000022374.
HOVERGENHBG045408.
InParanoidQ8K2G4.
KOK16749.
OMAKPIHKWE.
OrthoDBEOG7CNZG6.
PhylomeDBQ8K2G4.
TreeFamTF315013.

Gene expression databases

ArrayExpressQ8K2G4.
BgeeQ8K2G4.
CleanExMM_BBS7.
GenevestigatorQ8K2G4.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFPIRSF011091. BBS7. 1 hit.
SUPFAMSSF50978. SSF50978. 2 hits.
ProtoNetSearch...

Other

ChiTaRSBBS7. mouse.
NextBio333889.
PROQ8K2G4.
SOURCESearch...

Entry information

Entry nameBBS7_MOUSE
AccessionPrimary (citable) accession number: Q8K2G4
Secondary accession number(s): Q8C7G3, Q8CH00, Q9CXC2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

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