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Protein

Bardet-Biedl syndrome 7 protein homolog

Gene

Bbs7

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 BBSome complex ciliary localization but not for the proper complex assembly (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 7 protein homolog
Alternative name(s):
BBS2-like protein 1
Gene namesi
Name:Bbs7
Synonyms:Bbs2l1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1918742 Bbs7

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000648471 – 715Bardet-Biedl syndrome 7 protein homologAdd BLAST715

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ8K2G4
PRIDEiQ8K2G4

PTM databases

iPTMnetiQ8K2G4
PhosphoSitePlusiQ8K2G4

Expressioni

Gene expression databases

BgeeiENSMUSG00000037325 Expressed in 216 organ(s), highest expression level in retina
CleanExiMM_BBS7
ExpressionAtlasiQ8K2G4 baseline and differential
GenevisibleiQ8K2G4 MM

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

GO - Molecular functioni

Protein-protein interaction databases

ComplexPortaliCPX-1909 BBSome complex
DIPiDIP-60353N
IntActiQ8K2G4, 5 interactors
STRINGi10090.ENSMUSP00000103791

Structurei

3D structure databases

ProteinModelPortaliQ8K2G4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEV0 Eukaryota
ENOG410XSTP LUCA
GeneTreeiENSGT00390000012346
HOGENOMiHOG000022374
HOVERGENiHBG045408
InParanoidiQ8K2G4
KOiK16749
OMAiTCFGIKK
OrthoDBiEOG091G02SQ
PhylomeDBiQ8K2G4
TreeFamiTF315013

Family and domain databases

InterProiView protein in InterPro
IPR016575 Bardet-Biedl_syndrome_7_prot
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF011091 BBS7, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK
60 70 80 90 100
KGEAVPVFKT LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF
110 120 130 140 150
LSFETNLTES IKAMYISGSD LFLSASYIYN HYCDCKDQNY YLSGDKINDV
160 170 180 190 200
ICLPVEKLSR VTPVLACQDR VLRVLQGSDV MYEIEVPGPP TVLALHNGDG
210 220 230 240 250
GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG ILCVDSFDIM
260 270 280 290 300
GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD
310 320 330 340 350
GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE
360 370 380 390 400
HLQFKVLQER ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV
410 420 430 440 450
RTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDTESNDNF LLATYRCQAN
460 470 480 490 500
TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI
510 520 530 540 550
DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC ATFYFQNTFL
560 570 580 590 600
DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV
610 620 630 640 650
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL
660 670 680 690 700
EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL
710
DSYDQNTLIS FFDAA
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q0R0E9Q0R0_MOUSE
Bardet-Biedl syndrome 7 protein hom...
Bbs7
673Annotation score:
D3YXR1D3YXR1_MOUSE
Bardet-Biedl syndrome 7 protein hom...
Bbs7
91Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00885156 – 57PV → VM in isoform 2. 1 Publication2
Alternative sequenceiVSP_008852116 – 161ISGSD…KLSRV → VLFSFMFTYVSIIHLIKLVY TSRFFWKRNLATGISLFRTW NQYTVD in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_008853162 – 715Missing in isoform 3. 1 PublicationAdd BLAST554

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ8K2G4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ComplexPortaliCPX-1909 BBSome complex
DIPiDIP-60353N
IntActiQ8K2G4, 5 interactors
STRINGi10090.ENSMUSP00000103791

PTM databases

iPTMnetiQ8K2G4
PhosphoSitePlusiQ8K2G4

Proteomic databases

PaxDbiQ8K2G4
PRIDEiQ8K2G4

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55212
MGIiMGI:1918742 Bbs7

Phylogenomic databases

eggNOGiENOG410IEV0 Eukaryota
ENOG410XSTP LUCA
GeneTreeiENSGT00390000012346
HOGENOMiHOG000022374
HOVERGENiHBG045408
InParanoidiQ8K2G4
KOiK16749
OMAiTCFGIKK
OrthoDBiEOG091G02SQ
PhylomeDBiQ8K2G4
TreeFamiTF315013

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiBbs7 mouse
PROiPR:Q8K2G4
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000037325 Expressed in 216 organ(s), highest expression level in retina
CleanExiMM_BBS7
ExpressionAtlasiQ8K2G4 baseline and differential
GenevisibleiQ8K2G4 MM

Family and domain databases

InterProiView protein in InterPro
IPR016575 Bardet-Biedl_syndrome_7_prot
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF011091 BBS7, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBBS7_MOUSE
AccessioniPrimary (citable) accession number: Q8K2G4
Secondary accession number(s): Q8C7G3, Q8CH00, Q9CXC2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 120 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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