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Protein

Bardet-Biedl syndrome 1 protein homolog

Gene

Bbs1

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 (By similarity). Plays a role in olfactory cilium biogenesis/maintenance and trafficking and is essential for the localization of the BBSome complex in the olfactory sensory neurons cilia (PubMed:15322545, PubMed:28237838).By similarity2 Publications

GO - Molecular functioni

  • patched binding Source: MGI
  • phosphoprotein binding Source: MGI
  • receptor binding Source: BHF-UCL
  • RNA polymerase II repressing transcription factor binding Source: MGI
  • smoothened binding Source: MGI

GO - Biological processi

  • adult behavior Source: MGI
  • brain morphogenesis Source: MGI
  • cartilage development Source: MGI
  • cellular lipid metabolic process Source: MGI
  • cerebral cortex development Source: MGI
  • cilium assembly Source: BHF-UCL
  • dendrite development Source: MGI
  • fat cell differentiation Source: BHF-UCL
  • fertilization Source: MGI
  • Golgi to plasma membrane protein transport Source: MGI
  • hippocampus development Source: MGI
  • hormone metabolic process Source: MGI
  • intraciliary retrograde transport Source: MGI
  • microtubule cytoskeleton organization Source: MGI
  • neural precursor cell proliferation Source: MGI
  • neuron migration Source: MGI
  • non-motile cilium assembly Source: MGI
  • olfactory behavior Source: MGI
  • photoreceptor cell maintenance Source: MGI
  • photoreceptor cell morphogenesis Source: MGI
  • protein localization Source: MGI
  • protein localization to cilium Source: MGI
  • regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  • retina homeostasis Source: MGI
  • sensory perception of smell Source: MGI
  • striatum development Source: MGI
  • ventricular system development Source: MGI
  • visual perception Source: UniProtKB-KW

Keywordsi

Biological processCilium biogenesis/degradation, Olfaction, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 1 protein homolog
Gene namesi
Name:Bbs1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:1277215. Bbs1.

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

Mice are anosmic (inability to perceive odors) and have defective olfactory cilia. Significant reduction in olfactory sensory neurons ciliation in the olfactory epithelium with decreased cilium length and number. Impaired cilium localization of the BBSome complex.2 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi390M → R: Knockin mice exhibit olfaction deficits, male infertility, ventriculomegaly, retinopathy and obesity. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00004410162 – 593Bardet-Biedl syndrome 1 protein homologAdd BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ3V3N7.

Expressioni

Gene expression databases

BgeeiENSMUSG00000006464.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1.By similarity

GO - Molecular functioni

  • patched binding Source: MGI
  • phosphoprotein binding Source: MGI
  • receptor binding Source: BHF-UCL
  • RNA polymerase II repressing transcription factor binding Source: MGI
  • smoothened binding Source: MGI

Protein-protein interaction databases

IntActiQ3V3N7. 4 interactors.
STRINGi10090.ENSMUSP00000055321.

Structurei

3D structure databases

SMRiQ3V3N7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IG3X. Eukaryota.
ENOG410Y9JX. LUCA.
GeneTreeiENSGT00390000005232.
HOGENOMiHOG000260890.
HOVERGENiHBG045407.
KOiK16746.
OMAiAMLYGRM.
OrthoDBiEOG091G08R8.
TreeFamiTF312892.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiView protein in InterPro
IPR028784. BBS1.
IPR032728. BBS1_N.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
PANTHERiPTHR20870:SF1. PTHR20870:SF1. 1 hit.
PfamiView protein in Pfam
PF14779. BBS1. 1 hit.
SUPFAMiSSF50998. SSF50998. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q3V3N7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAASSSDSD SGRAESNEAN SKWLDAHYDP MANIHTFSSC LSLADLHGDG
60 70 80 90 100
EYKLVVGDLG PGGQQPRLKV LKGPTVLTES PLPALPASAA TFLMDQHEPR
110 120 130 140 150
TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDVWN QAKEDQIDPL
160 170 180 190 200
TLKEMLEDIR EKADVPLSVQ SLRFLQLELS EMEAFVNQHK SKVIKRQTVI
210 220 230 240 250
TTMTTLKKNL ADEDAASCLV LGTESKELLV LDPEAFTILA KMSLPSVPVF
260 270 280 290 300
LEVSGQFDVE FRLTAACRNG SIYILRRDSK HPKYCIELSA QPVGLVRVHK
310 320 330 340 350
VLVVGSTQES LHGFTHKGKK LWTVQMPAAI LTMNLLEQRS RGLQAVMAAL
360 370 380 390 400
ANGEVRIYRD KALLNVIHAP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK
410 420 430 440 450
ILKRTAVFVE GTGEVGPPLA QTTKLSVPRK TRLYVDQTLR EREAGTAMHR
460 470 480 490 500
TFQTDLYLLR LRAARAYVQA LESSLSPMST TAREPLKLHA VVQGLGPTFK
510 520 530 540 550
LTLHLQNTST ARPVLGLHVC FLYNKALYAL PQAFFKVPLL VPGLSYPLET
560 570 580 590
FVESLSSKGI SDMIKVLVLR EGQSAPLLSA HINMPVSEGL AAA
Length:593
Mass (Da):65,094
Last modified:October 11, 2005 - v1
Checksum:i322E9DD4DD554813
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK037753 mRNA. Translation: BAE20519.1.
AC141437 Genomic DNA. No translation available.
CCDSiCCDS29442.1.
RefSeqiNP_001028300.1. NM_001033128.3.
UniGeneiMm.23636.

Genome annotation databases

EnsembliENSMUST00000053506; ENSMUSP00000055321; ENSMUSG00000006464.
GeneIDi52028.
KEGGimmu:52028.
UCSCiuc008gbk.2. mouse.

Similar proteinsi

Entry informationi

Entry nameiBBS1_MOUSE
AccessioniPrimary (citable) accession number: Q3V3N7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2017
Last sequence update: October 11, 2005
Last modified: September 27, 2017
This is version 97 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