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Q8K2G4

- BBS7_MOUSE

UniProt

Q8K2G4 - BBS7_MOUSE

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Protein

Bardet-Biedl syndrome 7 protein homolog

Gene
Bbs7, Bbs2l1
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 BBSome complex ciliary localization but not for the proper complex assembly By similarity.

GO - Biological processi

  1. brain development Source: MGI
  2. eye development Source: MGI
  3. fat cell differentiation Source: BHF-UCL
  4. heart development Source: MGI
  5. limb development Source: MGI
  6. nonmotile primary cilium assembly Source: InterPro
  7. palate development Source: MGI
  8. positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
  9. protein localization Source: MGI
  10. protein transport Source: UniProtKB-KW
  11. regulation of transcription from RNA polymerase II promoter Source: Ensembl
  12. smoothened signaling pathway Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 7 protein homolog
Alternative name(s):
BBS2-like protein 1
Gene namesi
Name:Bbs7
Synonyms:Bbs2l1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 3

Organism-specific databases

MGIiMGI:1918742. Bbs7.

Subcellular locationi

GO - Cellular componenti

  1. axoneme Source: MGI
  2. BBSome Source: UniProtKB
  3. centrosome Source: MGI
  4. ciliary basal body Source: MGI
  5. ciliary membrane Source: UniProtKB-SubCell
  6. nucleus Source: MGI
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 – 715715Bardet-Biedl syndrome 7 protein homologPRO_0000064847Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8K2G4.
PaxDbiQ8K2G4.
PRIDEiQ8K2G4.

PTM databases

PhosphoSiteiQ8K2G4.

Expressioni

Gene expression databases

ArrayExpressiQ8K2G4.
BgeeiQ8K2G4.
CleanExiMM_BBS7.
GenevestigatoriQ8K2G4.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

DIPiDIP-60353N.
IntActiQ8K2G4. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8K2G4.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG72192.
GeneTreeiENSGT00390000012346.
HOGENOMiHOG000022374.
HOVERGENiHBG045408.
InParanoidiQ8K2G4.
KOiK16749.
OMAiKPIHKWE.
OrthoDBiEOG7CNZG6.
PhylomeDBiQ8K2G4.
TreeFamiTF315013.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFiPIRSF011091. BBS7. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8K2G4-1) [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

MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK    50
KGEAVPVFKT LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF 100
LSFETNLTES IKAMYISGSD LFLSASYIYN HYCDCKDQNY YLSGDKINDV 150
ICLPVEKLSR VTPVLACQDR VLRVLQGSDV MYEIEVPGPP TVLALHNGDG 200
GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG ILCVDSFDIM 250
GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 300
GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE 350
HLQFKVLQER ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV 400
RTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDTESNDNF LLATYRCQAN 450
TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI 500
DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC ATFYFQNTFL 550
DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL 650
EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL 700
DSYDQNTLIS FFDAA 715
Length:715
Mass (Da):80,320
Last modified:October 1, 2002 - v1
Checksum:iF7D8C284B04DA15B
GO
Isoform 2 (identifier: Q8K2G4-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:715
Mass (Da):80,354
Checksum:iF751315E44CAA589
GO
Isoform 3 (identifier: Q8K2G4-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:161
Mass (Da):18,201
Checksum:iBD4BB27542FF0053
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei56 – 572PV → VM in isoform 2. VSP_008851
Alternative sequencei116 – 16146ISGSD…KLSRV → VLFSFMFTYVSIIHLIKLVY TSRFFWKRNLATGISLFRTW NQYTVD in isoform 3. VSP_008852Add
BLAST
Alternative sequencei162 – 715554Missing in isoform 3. VSP_008853Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF521645 mRNA. Translation: AAO16027.1.
AK018389 mRNA. Translation: BAB31190.1.
AK050291 mRNA. Translation: BAC34169.1.
BC031505 mRNA. Translation: AAH31505.1.
CCDSiCCDS17314.2. [Q8K2G4-1]
RefSeqiNP_082086.2. NM_027810.3. [Q8K2G4-1]
UniGeneiMm.286187.

Genome annotation databases

EnsembliENSMUST00000040148; ENSMUSP00000047273; ENSMUSG00000037325. [Q8K2G4-2]
ENSMUST00000108156; ENSMUSP00000103791; ENSMUSG00000037325. [Q8K2G4-1]
GeneIDi71492.
KEGGimmu:71492.
UCSCiuc008ozp.2. mouse. [Q8K2G4-2]
uc008ozq.2. mouse. [Q8K2G4-1]
uc008ozr.1. mouse. [Q8K2G4-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF521645 mRNA. Translation: AAO16027.1 .
AK018389 mRNA. Translation: BAB31190.1 .
AK050291 mRNA. Translation: BAC34169.1 .
BC031505 mRNA. Translation: AAH31505.1 .
CCDSi CCDS17314.2. [Q8K2G4-1 ]
RefSeqi NP_082086.2. NM_027810.3. [Q8K2G4-1 ]
UniGenei Mm.286187.

3D structure databases

ProteinModelPortali Q8K2G4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-60353N.
IntActi Q8K2G4. 4 interactions.

PTM databases

PhosphoSitei Q8K2G4.

Proteomic databases

MaxQBi Q8K2G4.
PaxDbi Q8K2G4.
PRIDEi Q8K2G4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000040148 ; ENSMUSP00000047273 ; ENSMUSG00000037325 . [Q8K2G4-2 ]
ENSMUST00000108156 ; ENSMUSP00000103791 ; ENSMUSG00000037325 . [Q8K2G4-1 ]
GeneIDi 71492.
KEGGi mmu:71492.
UCSCi uc008ozp.2. mouse. [Q8K2G4-2 ]
uc008ozq.2. mouse. [Q8K2G4-1 ]
uc008ozr.1. mouse. [Q8K2G4-3 ]

Organism-specific databases

CTDi 55212.
MGIi MGI:1918742. Bbs7.

Phylogenomic databases

eggNOGi NOG72192.
GeneTreei ENSGT00390000012346.
HOGENOMi HOG000022374.
HOVERGENi HBG045408.
InParanoidi Q8K2G4.
KOi K16749.
OMAi KPIHKWE.
OrthoDBi EOG7CNZG6.
PhylomeDBi Q8K2G4.
TreeFami TF315013.

Miscellaneous databases

ChiTaRSi BBS7. mouse.
NextBioi 333889.
PROi Q8K2G4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8K2G4.
Bgeei Q8K2G4.
CleanExi MM_BBS7.
Genevestigatori Q8K2G4.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
InterProi IPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PIRSFi PIRSF011091. BBS7. 1 hit.
SUPFAMi SSF50978. SSF50978. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiBBS7_MOUSE
AccessioniPrimary (citable) accession number: Q8K2G4
Secondary accession number(s): Q8C7G3, Q8CH00, Q9CXC2
Entry historyi
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 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

External Data

Dasty 3

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