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Protein

Bardet-Biedl syndrome 2 protein homolog

Gene

Bbs2

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

Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-MMU-5620922 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2135267 Bbs2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
ChainiPRO_00000648441 – 721Bardet-Biedl syndrome 2 protein homologAdd BLAST721

Proteomic databases

MaxQBiQ9CWF6
PaxDbiQ9CWF6
PRIDEiQ9CWF6

PTM databases

iPTMnetiQ9CWF6
PhosphoSitePlusiQ9CWF6

Expressioni

Gene expression databases

BgeeiENSMUSG00000031755 Expressed in 243 organ(s), highest expression level in retina
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

GO - Molecular functioni

Protein-protein interaction databases

ComplexPortaliCPX-1909 BBSome complex
DIPiDIP-60351N
IntActiQ9CWF6, 12 interactors
STRINGi10090.ENSMUSP00000034206

Structurei

3D structure databases

ProteinModelPortaliQ9CWF6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili325 – 369Sequence analysisAdd BLAST45

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IF6W Eukaryota
ENOG410XPDF LUCA
GeneTreeiENSGT00390000017113
HOGENOMiHOG000007549
HOVERGENiHBG031114
InParanoidiQ9CWF6
KOiK16747
OMAiPEDTNIQ
OrthoDBiEOG091G03EK
PhylomeDBiQ9CWF6
TreeFamiTF313236

Family and domain databases

InterProiView protein in InterPro
IPR016616 Bardet-Biedl_syndrome_2_prot
IPR029333 BBS2_C
IPR029429 BBS2_Mid
IPR029430 BBS2_N
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR32465 PTHR32465, 1 hit
PfamiView protein in Pfam
PF14782 BBS2_C, 1 hit
PF14783 BBS2_Mid, 1 hit
PF14781 BBS2_N, 1 hit
PIRSFiPIRSF013684 BBS2, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

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

Similar proteinsi

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

ComplexPortaliCPX-1909 BBSome complex
DIPiDIP-60351N
IntActiQ9CWF6, 12 interactors
STRINGi10090.ENSMUSP00000034206

PTM databases

iPTMnetiQ9CWF6
PhosphoSitePlusiQ9CWF6

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

eggNOGiENOG410IF6W Eukaryota
ENOG410XPDF LUCA
GeneTreeiENSGT00390000017113
HOGENOMiHOG000007549
HOVERGENiHBG031114
InParanoidiQ9CWF6
KOiK16747
OMAiPEDTNIQ
OrthoDBiEOG091G03EK
PhylomeDBiQ9CWF6
TreeFamiTF313236

Enzyme and pathway databases

ReactomeiR-MMU-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

PROiPR:Q9CWF6
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000031755 Expressed in 243 organ(s), highest expression level in retina
CleanExiMM_BBS2
GenevisibleiQ9CWF6 MM

Family and domain databases

InterProiView protein in InterPro
IPR016616 Bardet-Biedl_syndrome_2_prot
IPR029333 BBS2_C
IPR029429 BBS2_Mid
IPR029430 BBS2_N
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR32465 PTHR32465, 1 hit
PfamiView protein in Pfam
PF14782 BBS2_C, 1 hit
PF14783 BBS2_Mid, 1 hit
PF14781 BBS2_N, 1 hit
PIRSFiPIRSF013684 BBS2, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBBS2_MOUSE
AccessioniPrimary (citable) accession number: Q9CWF6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 129 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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