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Protein

Bardet-Biedl syndrome 7 protein

Gene

BBS7

Organism
Homo sapiens (Human)
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.2 Publications

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

Keywordsi

Biological processCilium 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

EuPathDBiHostDB:ENSG00000138686.9
HGNCiHGNC:18758 BBS7
MIMi607590 gene
neXtProtiNX_Q8IWZ6

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

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 dbSNP:rs754579374Ensembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant dbSNP:rs119466002EnsemblClinVar.1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs119466001EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi55212
GeneReviewsiBBS7
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

EPDiQ8IWZ6
MaxQBiQ8IWZ6
PaxDbiQ8IWZ6
PeptideAtlasiQ8IWZ6
PRIDEiQ8IWZ6
ProteomicsDBi70943
70944 [Q8IWZ6-2]

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

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

Show more details

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

Protein-protein interaction databases

BioGridi120508, 64 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ8IWZ6
DIPiDIP-46566N
IntActiQ8IWZ6, 33 interactors
STRINGi9606.ENSP00000264499

Structurei

3D structure databases

ProteinModelPortaliQ8IWZ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IEV0 Eukaryota
ENOG410XSTP LUCA
GeneTreeiENSGT00390000012346
HOGENOMiHOG000022374
HOVERGENiHBG045408
InParanoidiQ8IWZ6
KOiK16749
OMAiCQVRQYQ
OrthoDBiEOG091G02SQ
PhylomeDBiQ8IWZ6
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, 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 dbSNP:rs754579374Ensembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant dbSNP:rs119466002EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs889417696Ensembl.1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs119466001EnsemblClinVar.1
Natural variantiVAR_065555671Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. 1 PublicationCorresponds to variant dbSNP:rs1013002037Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiBBS7_HUMAN
AccessioniPrimary (citable) accession number: Q8IWZ6
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 7, 2006
Last modified: June 20, 2018
This is version 142 of the entry and version 2 of the sequence. See 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

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