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Protein

Bardet-Biedl syndrome 2 protein homolog

Gene

Bbs2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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 - Molecular functioni

GO - Biological processi

  • adult behavior Source: MGI
  • artery smooth muscle contraction Source: MGI
  • brain morphogenesis Source: MGI
  • cartilage development Source: MGI
  • cerebral cortex development Source: MGI
  • cilium assembly Source: BHF-UCL
  • cilium morphogenesis Source: BHF-UCL
  • fat cell differentiation Source: BHF-UCL
  • Golgi to plasma membrane protein transport Source: MGI
  • hippocampus development Source: MGI
  • leptin-mediated signaling pathway Source: MGI
  • negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
  • negative regulation of gene expression Source: MGI
  • negative regulation of multicellular organism growth Source: MGI
  • photoreceptor cell maintenance Source: MGI
  • positive regulation of multicellular organism growth Source: MGI
  • protein localization Source: MGI
  • protein localization to ciliary membrane Source: MGI
  • protein localization to organelle Source: BHF-UCL
  • regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  • response to leptin Source: MGI
  • sperm axoneme assembly Source: MGI
  • striatum development Source: MGI
  • vasodilation Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_362338. BBSome-mediated cargo-targeting to cilium.

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 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2135267. Bbs2.

Subcellular locationi

GO - Cellular componenti

  • BBSome Source: UniProtKB
  • ciliary basal body Source: MGI
  • ciliary membrane Source: UniProtKB-SubCell
  • cytoplasm Source: UniProtKB-SubCell
  • membrane Source: MGI
  • motile cilium Source: BHF-UCL
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.
GenevisibleiQ9CWF6. MM.

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.
STRINGi10090.ENSMUSP00000034206.

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.
OMAiESHVVHP.
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.
CCDSiCCDS40434.1.
RefSeqiNP_080392.1. NM_026116.2.
UniGeneiMm.292107.

3D structure databases

ProteinModelPortaliQ9CWF6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-60351N.
IntActiQ9CWF6. 12 interactions.
STRINGi10090.ENSMUSP00000034206.

PTM databases

PhosphoSiteiQ9CWF6.

Proteomic databases

MaxQBiQ9CWF6.
PaxDbiQ9CWF6.
PRIDEiQ9CWF6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi583.
MGIiMGI:2135267. Bbs2.

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiREACT_362338. BBSome-mediated cargo-targeting to cilium.

Miscellaneous databases

NextBioi324396.
PROiQ9CWF6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9CWF6.
CleanExiMM_BBS2.
GenevisibleiQ9CWF6. MM.

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.
ProtoNetiSearch...

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: July 22, 2015
This is version 106 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.