Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Bardet-Biedl syndrome 7 protein

Gene

BBS7

Organism
Homo sapiens (Human)
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.2 Publications

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 7 protein
Alternative name(s):
BBS2-like protein 1
Gene namesi
Name:BBS7
Synonyms:BBS2L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:18758. BBS7.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: GO_Central
  • BBSome Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: GO_Central
  • ciliary membrane Source: UniProtKB-SubCell
  • cytosol Source: Reactome
  • membrane Source: GO_Central
  • nucleus Source: Ensembl
  • photoreceptor outer segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.

Bardet-Biedl syndrome 7 (BBS7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:615984
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06628663G → R in BBS7. 1 PublicationCorresponds to variant rs754579374dbSNPEnsembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant rs119466002dbSNPEnsembl.1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant rs119466001dbSNPEnsembl.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi55212.
MalaCardsiBBS7.
MIMi615984. phenotype.
OpenTargetsiENSG00000138686.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA134923753.

Polymorphism and mutation databases

BioMutaiBBS7.
DMDMi90110978.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000648461 – 715Bardet-Biedl syndrome 7 proteinAdd BLAST715

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8IWZ6.
PaxDbiQ8IWZ6.
PeptideAtlasiQ8IWZ6.
PRIDEiQ8IWZ6.

PTM databases

iPTMnetiQ8IWZ6.
PhosphoSitePlusiQ8IWZ6.

Expressioni

Tissue specificityi

Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.

Gene expression databases

BgeeiENSG00000138686.
CleanExiHS_BBS7.
ExpressionAtlasiQ8IWZ6. baseline and differential.
GenevisibleiQ8IWZ6. HS.

Organism-specific databases

HPAiHPA044592.
HPA058198.

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 and ALDOB. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ALDOBP050624EBI-1806001,EBI-1045507
BBS1Q8NFJ97EBI-1806001,EBI-1805484
BBS10Q8TAM14EBI-1806001,EBI-6128013
BBS12Q6ZW616EBI-1806001,EBI-6128352
BBS2Q9BXC913EBI-1806001,EBI-748297
CCT2P783713EBI-1806001,EBI-357407
IQCB1Q150515EBI-1806001,EBI-2805823
JUNP054123EBI-1806001,EBI-852823

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

Protein-protein interaction databases

BioGridi120508. 56 interactors.
DIPiDIP-46566N.
IntActiQ8IWZ6. 31 interactors.
STRINGi9606.ENSP00000264499.

Structurei

3D structure databases

ProteinModelPortaliQ8IWZ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEV0. Eukaryota.
ENOG410XSTP. LUCA.
GeneTreeiENSGT00390000012346.
HOGENOMiHOG000022374.
HOVERGENiHBG045408.
InParanoidiQ8IWZ6.
KOiK16749.
OMAiKPIHKWE.
OrthoDBiEOG091G02SQ.
PhylomeDBiQ8IWZ6.
TreeFamiTF315013.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFiPIRSF011091. BBS7. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IWZ6-1) [UniParc]FASTAAdd to basket
Also known as: Long, lBBS2L1

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
MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK
60 70 80 90 100
KGEAAAVFKT LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF
110 120 130 140 150
LSFETNLTES IKAMHISGSD LFLSASYIYN HYCDCKDQHY YLSGDKINDV
160 170 180 190 200
ICLPVERLSR ITPVLACQDR VLRVLQGSDV MYAVEVPGPP TVLALHNGNG
210 220 230 240 250
GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG ILCIDSFDIV
260 270 280 290 300
GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD
310 320 330 340 350
SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE
360 370 380 390 400
HLQYKVLQER ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV
410 420 430 440 450
QTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDSESNDNF LLATYRCQAD
460 470 480 490 500
TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI
510 520 530 540 550
DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC VTFYFQNTFL
560 570 580 590 600
DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV
610 620 630 640 650
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL
660 670 680 690 700
EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL
710
DSYDQNALIS FFDAA
Length:715
Mass (Da):80,353
Last modified:March 7, 2006 - v2
Checksum:iA7856647969713FF
GO
Isoform 2 (identifier: Q8IWZ6-2) [UniParc]FASTAAdd to basket
Also known as: Short, sBBS2L1

The sequence of this isoform differs from the canonical sequence as follows:
     673-715: Missing.

Show »
Length:672
Mass (Da):75,446
Checksum:i80A007A34EFE5D9B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti469Q → L in AAO16025 (PubMed:12567324).Curated1
Sequence conflicti469Q → L in AAO16026 (PubMed:12567324).Curated1
Sequence conflicti469Q → L in BAA91767 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06628663G → R in BBS7. 1 PublicationCorresponds to variant rs754579374dbSNPEnsembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant rs119466002dbSNPEnsembl.1
Natural variantiVAR_066459293Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. 1 Publication1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant rs119466001dbSNPEnsembl.1
Natural variantiVAR_065555671Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008850673 – 715Missing in isoform 2. 3 PublicationsAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF521643 mRNA. Translation: AAO16025.1.
AF521644 mRNA. Translation: AAO16026.1.
AK001577 mRNA. Translation: BAA91767.1.
AC079341 Genomic DNA. Translation: AAY40970.1.
BC032691 mRNA. Translation: AAH32691.1.
CCDSiCCDS3724.1. [Q8IWZ6-1]
CCDS54799.1. [Q8IWZ6-2]
RefSeqiNP_060660.2. NM_018190.3. [Q8IWZ6-2]
NP_789794.1. NM_176824.2. [Q8IWZ6-1]
UniGeneiHs.591694.

Genome annotation databases

EnsembliENST00000264499; ENSP00000264499; ENSG00000138686. [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686. [Q8IWZ6-2]
GeneIDi55212.
KEGGihsa:55212.
UCSCiuc003ied.4. human. [Q8IWZ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the BBS7 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF521643 mRNA. Translation: AAO16025.1.
AF521644 mRNA. Translation: AAO16026.1.
AK001577 mRNA. Translation: BAA91767.1.
AC079341 Genomic DNA. Translation: AAY40970.1.
BC032691 mRNA. Translation: AAH32691.1.
CCDSiCCDS3724.1. [Q8IWZ6-1]
CCDS54799.1. [Q8IWZ6-2]
RefSeqiNP_060660.2. NM_018190.3. [Q8IWZ6-2]
NP_789794.1. NM_176824.2. [Q8IWZ6-1]
UniGeneiHs.591694.

3D structure databases

ProteinModelPortaliQ8IWZ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120508. 56 interactors.
DIPiDIP-46566N.
IntActiQ8IWZ6. 31 interactors.
STRINGi9606.ENSP00000264499.

PTM databases

iPTMnetiQ8IWZ6.
PhosphoSitePlusiQ8IWZ6.

Polymorphism and mutation databases

BioMutaiBBS7.
DMDMi90110978.

Proteomic databases

MaxQBiQ8IWZ6.
PaxDbiQ8IWZ6.
PeptideAtlasiQ8IWZ6.
PRIDEiQ8IWZ6.

Protocols and materials databases

DNASUi55212.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264499; ENSP00000264499; ENSG00000138686. [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686. [Q8IWZ6-2]
GeneIDi55212.
KEGGihsa:55212.
UCSCiuc003ied.4. human. [Q8IWZ6-1]

Organism-specific databases

CTDi55212.
DisGeNETi55212.
GeneCardsiBBS7.
GeneReviewsiBBS7.
HGNCiHGNC:18758. BBS7.
HPAiHPA044592.
HPA058198.
MalaCardsiBBS7.
MIMi607590. gene.
615984. phenotype.
neXtProtiNX_Q8IWZ6.
OpenTargetsiENSG00000138686.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA134923753.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEV0. Eukaryota.
ENOG410XSTP. LUCA.
GeneTreeiENSGT00390000012346.
HOGENOMiHOG000022374.
HOVERGENiHBG045408.
InParanoidiQ8IWZ6.
KOiK16749.
OMAiKPIHKWE.
OrthoDBiEOG091G02SQ.
PhylomeDBiQ8IWZ6.
TreeFamiTF315013.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiBBS7.
GenomeRNAii55212.
PROiQ8IWZ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138686.
CleanExiHS_BBS7.
ExpressionAtlasiQ8IWZ6. baseline and differential.
GenevisibleiQ8IWZ6. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFiPIRSF011091. BBS7. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiBBS7_HUMAN
AccessioniPrimary (citable) accession number: Q8IWZ6
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 7, 2006
Last modified: November 30, 2016
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 one 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.