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Protein

Bardet-Biedl syndrome 5 protein

Gene

BBS5

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 BBSome complex ciliary localization but not for the proper complex assembly.2 Publications

Miscellaneous

BBS5 may interact genetically with BBS1.

GO - Molecular functioni

  • phosphatidylinositol-3-phosphate binding Source: BHF-UCL
  • 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 5 protein
Gene namesi
Name:BBS5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000163093.11
HGNCiHGNC:970 BBS5
MIMi603650 gene
neXtProtiNX_Q8N3I7

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

Bardet-Biedl syndrome 5 (BBS5)3 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:615983
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06629072G → S in BBS5. 2 PublicationsCorresponds to variant dbSNP:rs121908581EnsemblClinVar.1
Natural variantiVAR_072380183T → A in BBS5; found in patient of Sri Lankan origin; not detected in patients of Northern European origin. 1 PublicationCorresponds to variant dbSNP:rs121908582EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi129880
GeneReviewsiBBS5
MalaCardsiBBS5
MIMi615983 phenotype
OpenTargetsiENSG00000163093
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA25279

Polymorphism and mutation databases

BioMutaiBBS5
DMDMi74750959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002232541 – 341Bardet-Biedl syndrome 5 proteinAdd BLAST341

Proteomic databases

MaxQBiQ8N3I7
PaxDbiQ8N3I7
PeptideAtlasiQ8N3I7
PRIDEiQ8N3I7

PTM databases

iPTMnetiQ8N3I7
PhosphoSitePlusiQ8N3I7

Expressioni

Gene expression databases

BgeeiENSG00000163093
CleanExiHS_BBS5
ExpressionAtlasiQ8N3I7 baseline and differential
GenevisibleiQ8N3I7 HS

Organism-specific databases

HPAiHPA046125

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Binds to phosphoinositides. 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. Interacts with PKD1 (PubMed:24939912).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

Protein-protein interaction databases

BioGridi126215, 13 interactors
CORUMiQ8N3I7
DIPiDIP-60357N
IntActiQ8N3I7, 18 interactors
STRINGi9606.ENSP00000295240

Structurei

3D structure databases

ProteinModelPortaliQ8N3I7
SMRiQ8N3I7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BBS5 family.Curated

Phylogenomic databases

eggNOGiENOG410IGWS Eukaryota
ENOG410XUMT LUCA
GeneTreeiENSGT00390000002753
HOGENOMiHOG000231964
HOVERGENiHBG053449
InParanoidiQ8N3I7
KOiK16748
OMAiIIWHSLV
OrthoDBiEOG091G0C3Y
PhylomeDBiQ8N3I7
TreeFamiTF106129

Family and domain databases

InterProiView protein in InterPro
IPR006606 BBL5
IPR030804 BBS5/fem-3
IPR014003 DM16_repeat
PANTHERiPTHR21351 PTHR21351, 1 hit
PfamiView protein in Pfam
PF07289 BBL5, 1 hit
PIRSFiPIRSF010072 DUF1448, 1 hit
SMARTiView protein in SMART
SM00683 DM16, 2 hits

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N3I7-1) [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
MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL
60 70 80 90 100
LVTNLRILWH SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK
110 120 130 140 150
CNSTRFEFIF TNLVPGSPRL FTSVMAVHRA YETSKMYRDF KLRSALIQNK
160 170 180 190 200
QLRLLPQEHV YDKINGVWNL SSDQGNLGTF FITNVRIVWH ANMNDSFNVS
210 220 230 240 250
IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV EKLQESVKEI
260 270 280 290 300
NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDGHTDAFV
310 320 330 340
AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S
Length:341
Mass (Da):38,755
Last modified:October 1, 2002 - v1
Checksum:i63D67D877FDFD25B
GO
Isoform 2 (identifier: Q8N3I7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     207-227: Missing.

Show »
Length:320
Mass (Da):36,397
Checksum:i843BC731AE686410
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06629072G → S in BBS5. 2 PublicationsCorresponds to variant dbSNP:rs121908581EnsemblClinVar.1
Natural variantiVAR_072380183T → A in BBS5; found in patient of Sri Lankan origin; not detected in patients of Northern European origin. 1 PublicationCorresponds to variant dbSNP:rs121908582EnsemblClinVar.1
Natural variantiVAR_025316184N → S Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes; might have a modifying effect on disease phenotype. 2 PublicationsCorresponds to variant dbSNP:rs137853921EnsemblClinVar.1
Natural variantiVAR_025317207R → H Found as heterozygous variant in patients with Bardet-Biedl syndrome; might have a modifying effect on disease phenotype. 1 PublicationCorresponds to variant dbSNP:rs35487251EnsemblClinVar.1
Natural variantiVAR_066291251N → D1 PublicationCorresponds to variant dbSNP:rs143113298EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017240207 – 227Missing in isoform 2. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY604003 mRNA Translation: AAT08182.1
AY604004 mRNA Translation: AAT08183.1
AL834305 mRNA Translation: CAD38975.1
AC093899 Genomic DNA Translation: AAY24116.1
CH471058 Genomic DNA Translation: EAX11276.1
CH471058 Genomic DNA Translation: EAX11279.1
BC044593 mRNA Translation: AAH44593.1
CCDSiCCDS2233.1 [Q8N3I7-1]
RefSeqiNP_689597.1, NM_152384.2 [Q8N3I7-1]
UniGeneiHs.233398

Genome annotation databases

EnsembliENST00000295240; ENSP00000295240; ENSG00000163093 [Q8N3I7-1]
ENST00000392663; ENSP00000376431; ENSG00000163093 [Q8N3I7-2]
GeneIDi129880
KEGGihsa:129880
UCSCiuc002uet.4 human [Q8N3I7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBBS5_HUMAN
AccessioniPrimary (citable) accession number: Q8N3I7
Secondary accession number(s): D3DPC3, Q6PKN0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 140 of the entry and version 1 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

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