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Q9CWF6

- BBS2_MOUSE

UniProt

Q9CWF6 - BBS2_MOUSE

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Protein

Bardet-Biedl syndrome 2 protein homolog

Gene

Bbs2

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. adult behavior Source: MGI
  2. artery smooth muscle contraction Source: MGI
  3. brain morphogenesis Source: MGI
  4. cartilage development Source: MGI
  5. cerebral cortex development Source: MGI
  6. cilium assembly Source: BHF-UCL
  7. cilium morphogenesis Source: BHF-UCL
  8. fat cell differentiation Source: BHF-UCL
  9. Golgi to plasma membrane protein transport Source: Ensembl
  10. hippocampus development Source: MGI
  11. leptin-mediated signaling pathway Source: MGI
  12. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
  13. negative regulation of gene expression Source: MGI
  14. negative regulation of multicellular organism growth Source: MGI
  15. photoreceptor cell maintenance Source: MGI
  16. positive regulation of multicellular organism growth Source: MGI
  17. protein localization Source: MGI
  18. protein localization to organelle Source: BHF-UCL
  19. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  20. response to leptin Source: MGI
  21. sperm axoneme assembly Source: MGI
  22. striatum development Source: MGI
  23. vasodilation Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 2 protein homolog
Gene namesi
Name:Bbs2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 8

Organism-specific databases

MGIiMGI:2135267. Bbs2.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Disruption phenotypei

In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptinan mice are resistant to the metabolic actions of leptin.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 721721Bardet-Biedl syndrome 2 protein homologPRO_0000064844Add
BLAST

Proteomic databases

MaxQBiQ9CWF6.
PaxDbiQ9CWF6.
PRIDEiQ9CWF6.

PTM databases

PhosphoSiteiQ9CWF6.

Expressioni

Gene expression databases

BgeeiQ9CWF6.
CleanExiMM_BBS2.
GenevestigatoriQ9CWF6.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B.1 Publication

Protein-protein interaction databases

DIPiDIP-60351N.
IntActiQ9CWF6. 12 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9CWF6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili325 – 36945Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG87621.
GeneTreeiENSGT00390000017113.
HOGENOMiHOG000007549.
HOVERGENiHBG031114.
InParanoidiQ9CWF6.
KOiK16747.
OMAiKVDEYHS.
OrthoDBiEOG7TMZRK.
PhylomeDBiQ9CWF6.
TreeFamiTF313236.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016616. Bardet-Biedl_syndrome_2_prot.
IPR029333. BBS2_C.
IPR029429. BBS2_Mid.
IPR029430. BBS2_N.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR32465:SF0. PTHR32465:SF0. 1 hit.
PfamiPF14782. BBS2_C. 1 hit.
PF14783. BBS2_Mid. 1 hit.
PF14781. BBS2_N. 1 hit.
[Graphical view]
PIRSFiPIRSF013684. BBS2. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequencei

Sequence statusi: Complete.

Q9CWF6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQAGKV FIHNPHTRSQ
60 70 80 90 100
HFSASRVFQS PLESDVSLLN INQTVSCLGS GVLNPELGYD TLLVGTQTSL
110 120 130 140 150
LAYDIYNNSD LFYREVSDGA NAIVLGTLGD IAPPLAIIGG NCALQGFDHE
160 170 180 190 200
GNDLFWTVTG DNVHSLALCD FDGDGKTELL VGSEDFDIRV FKEDEIVAEM
210 220 230 240 250
TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTARYWRIKS KNHAMSIHAF
260 270 280 290 300
DINSDGVCEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAVA GVVEGDYRMD
310 320 330 340 350
GHVQLICCSV DGEIRGYLPG TAEMKGNLLD TSVEQDLIRE LSQKKQNLLL
360 370 380 390 400
ELRNYEESTK AELSSPLNEA DGQKGIIPAN TRLHTALSVN MGNDLQDAHA
410 420 430 440 450
ELGISTSNDT IIRAVLIFAE GIFVGESHVV HPSIHNLSSS LRVPITPPKD
460 470 480 490 500
VPVDLHLKTF VGYRSSTQFH VFELTRQLPR FTMYALTSPD AASEPVSYVN
510 520 530 540 550
FSVAERTQRM VTWLNQNFLL PEDSNVQNSP FHVCFTSLRN GGQLYIKMKQ
560 570 580 590 600
SGEITVNTDD IDLAGDIIQS IASFFAIEDL QVEADFPVYF EELRKVLVKV
610 620 630 640 650
DEYHSVHQKL SADMADNSNL IRSLLVRAED ARLMRDMKTM KSRYMELYDL
660 670 680 690 700
NKDLLNGYKI RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVISACRD
710 720
AIRSNNINTL FRIMRVGTAP S
Length:721
Mass (Da):79,932
Last modified:June 1, 2001 - v1
Checksum:iC91D9B7834B614F4
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF342737 mRNA. Translation: AAK28553.1.
AK010779 mRNA. Translation: BAB27176.1.
BC057184 mRNA. Translation: AAH57184.1.
CCDSiCCDS40434.1.
RefSeqiNP_080392.1. NM_026116.2.
UniGeneiMm.292107.

Genome annotation databases

EnsembliENSMUST00000034206; ENSMUSP00000034206; ENSMUSG00000031755.
GeneIDi67378.
KEGGimmu:67378.
UCSCiuc009mvs.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF342737 mRNA. Translation: AAK28553.1 .
AK010779 mRNA. Translation: BAB27176.1 .
BC057184 mRNA. Translation: AAH57184.1 .
CCDSi CCDS40434.1.
RefSeqi NP_080392.1. NM_026116.2.
UniGenei Mm.292107.

3D structure databases

ProteinModelPortali Q9CWF6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-60351N.
IntActi Q9CWF6. 12 interactions.

PTM databases

PhosphoSitei Q9CWF6.

Proteomic databases

MaxQBi Q9CWF6.
PaxDbi Q9CWF6.
PRIDEi Q9CWF6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000034206 ; ENSMUSP00000034206 ; ENSMUSG00000031755 .
GeneIDi 67378.
KEGGi mmu:67378.
UCSCi uc009mvs.1. mouse.

Organism-specific databases

CTDi 583.
MGIi MGI:2135267. Bbs2.

Phylogenomic databases

eggNOGi NOG87621.
GeneTreei ENSGT00390000017113.
HOGENOMi HOG000007549.
HOVERGENi HBG031114.
InParanoidi Q9CWF6.
KOi K16747.
OMAi KVDEYHS.
OrthoDBi EOG7TMZRK.
PhylomeDBi Q9CWF6.
TreeFami TF313236.

Miscellaneous databases

NextBioi 324396.
PROi Q9CWF6.
SOURCEi Search...

Gene expression databases

Bgeei Q9CWF6.
CleanExi MM_BBS2.
Genevestigatori Q9CWF6.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
InterProi IPR016616. Bardet-Biedl_syndrome_2_prot.
IPR029333. BBS2_C.
IPR029429. BBS2_Mid.
IPR029430. BBS2_N.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PANTHERi PTHR32465:SF0. PTHR32465:SF0. 1 hit.
Pfami PF14782. BBS2_C. 1 hit.
PF14783. BBS2_Mid. 1 hit.
PF14781. BBS2_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF013684. BBS2. 1 hit.
SUPFAMi SSF50978. SSF50978. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Strain: Swiss Webster / NIH.
    Tissue: Fetus.
  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].
    Strain: C57BL/6J.
    Tissue: Embryonic stem cell.
  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].
    Strain: Czech II.
    Tissue: Mammary gland.
  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. "Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome."
    Rahmouni K., Fath M.A., Seo S., Thedens D.R., Berry C.J., Weiss R., Nishimura D.Y., Sheffield V.C.
    J. Clin. Invest. 118:1458-1467(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.

Entry informationi

Entry nameiBBS2_MOUSE
AccessioniPrimary (citable) accession number: Q9CWF6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: June 1, 2001
Last modified: October 29, 2014
This is version 100 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