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Q8N3I7

- BBS5_HUMAN

UniProt

Q8N3I7 - BBS5_HUMAN

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Protein

Bardet-Biedl syndrome 5 protein

Gene

BBS5

Organism
Homo sapiens (Human)
Status
Reviewed - 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 BBSome complex ciliary localization but not for the proper complex assembly.2 Publications

GO - Molecular functioni

  1. phosphatidylinositol-3-phosphate binding Source: BHF-UCL
  2. RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

  1. cilium assembly Source: BHF-UCL
  2. heart looping Source: BHF-UCL
  3. melanosome transport Source: BHF-UCL
  4. motile cilium assembly Source: BHF-UCL
  5. protein transport Source: UniProtKB-KW
  6. response to stimulus Source: UniProtKB-KW
  7. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

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

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 5 protein
Gene namesi
Name:BBS5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:970. BBS5.

Subcellular locationi

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. ciliary basal body Source: BHF-UCL
  3. cytoplasm Source: UniProtKB-KW
  4. intracellular Source: LIFEdb
  5. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 5 (BBS5) [MIM:209900]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721G → S in BBS5. 1 Publication
VAR_066290

Keywords - Diseasei

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

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25279.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 341341Bardet-Biedl syndrome 5 proteinPRO_0000223254Add
BLAST

Proteomic databases

MaxQBiQ8N3I7.
PaxDbiQ8N3I7.
PRIDEiQ8N3I7.

PTM databases

PhosphoSiteiQ8N3I7.

Expressioni

Gene expression databases

BgeeiQ8N3I7.
CleanExiHS_BBS5.
ExpressionAtlasiQ8N3I7. baseline.
GenevestigatoriQ8N3I7.

Organism-specific databases

HPAiHPA036416.

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.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BBS9Q3SYG44EBI-2892592,EBI-2826852

Protein-protein interaction databases

BioGridi126215. 1 interaction.
DIPiDIP-60357N.
IntActiQ8N3I7. 8 interactions.
MINTiMINT-3039679.
STRINGi9606.ENSP00000295240.

Structurei

3D structure databases

ProteinModelPortaliQ8N3I7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BBS5 family.Curated

Phylogenomic databases

eggNOGiNOG82102.
GeneTreeiENSGT00390000002753.
HOGENOMiHOG000231964.
HOVERGENiHBG053449.
InParanoidiQ8N3I7.
KOiK16748.
OMAiELGFAME.
OrthoDBiEOG7NCV3S.
PhylomeDBiQ8N3I7.
TreeFamiTF106129.

Family and domain databases

InterProiIPR006606. BBL5.
[Graphical view]
PANTHERiPTHR21351. PTHR21351. 1 hit.
PfamiPF07289. DUF1448. 1 hit.
[Graphical view]
PIRSFiPIRSF010072. DUF1448. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721G → S in BBS5. 1 Publication
VAR_066290
Natural varianti184 – 1841N → S Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes; might have a modifying effect on disease phenotype. 2 Publications
Corresponds to variant rs150063999 [ dbSNP | Ensembl ].
VAR_025316
Natural varianti207 – 2071R → H Found as heterozygous variant in patients with Bardet-Biedl syndrome; might have a modifying effect on disease phenotype. 1 Publication
Corresponds to variant rs35487251 [ dbSNP | Ensembl ].
VAR_025317
Natural varianti251 – 2511N → D.1 Publication
Corresponds to variant rs143113298 [ dbSNP | Ensembl ].
VAR_066291

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei207 – 22721Missing in isoform 2. 1 PublicationVSP_017240Add
BLAST

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.3. human. [Q8N3I7-1]
uc010fpw.3. human. [Q8N3I7-2]

Polymorphism databases

DMDMi74750959.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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 .
CCDSi CCDS2233.1. [Q8N3I7-1 ]
RefSeqi NP_689597.1. NM_152384.2. [Q8N3I7-1 ]
UniGenei Hs.233398.

3D structure databases

ProteinModelPortali Q8N3I7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126215. 1 interaction.
DIPi DIP-60357N.
IntActi Q8N3I7. 8 interactions.
MINTi MINT-3039679.
STRINGi 9606.ENSP00000295240.

PTM databases

PhosphoSitei Q8N3I7.

Polymorphism databases

DMDMi 74750959.

Proteomic databases

MaxQBi Q8N3I7.
PaxDbi Q8N3I7.
PRIDEi Q8N3I7.

Protocols and materials databases

DNASUi 129880.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295240 ; ENSP00000295240 ; ENSG00000163093 . [Q8N3I7-1 ]
ENST00000392663 ; ENSP00000376431 ; ENSG00000163093 . [Q8N3I7-2 ]
GeneIDi 129880.
KEGGi hsa:129880.
UCSCi uc002uet.3. human. [Q8N3I7-1 ]
uc010fpw.3. human. [Q8N3I7-2 ]

Organism-specific databases

CTDi 129880.
GeneCardsi GC02P170335.
GeneReviewsi BBS5.
HGNCi HGNC:970. BBS5.
HPAi HPA036416.
MIMi 209900. phenotype.
603650. gene.
neXtProti NX_Q8N3I7.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA25279.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82102.
GeneTreei ENSGT00390000002753.
HOGENOMi HOG000231964.
HOVERGENi HBG053449.
InParanoidi Q8N3I7.
KOi K16748.
OMAi ELGFAME.
OrthoDBi EOG7NCV3S.
PhylomeDBi Q8N3I7.
TreeFami TF106129.

Miscellaneous databases

ChiTaRSi BBS5. human.
GeneWikii BBS5.
GenomeRNAii 129880.
NextBioi 82665.
PROi Q8N3I7.
SOURCEi Search...

Gene expression databases

Bgeei Q8N3I7.
CleanExi HS_BBS5.
ExpressionAtlasi Q8N3I7. baseline.
Genevestigatori Q8N3I7.

Family and domain databases

InterProi IPR006606. BBL5.
[Graphical view ]
PANTHERi PTHR21351. PTHR21351. 1 hit.
Pfami PF07289. DUF1448. 1 hit.
[Graphical view ]
PIRSFi PIRSF010072. DUF1448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INVOLVEMENT IN BBS5, VARIANTS SER-184 AND HIS-207.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Melanoma.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  6. Cited for: INTERACTION WITH CCDC28B.
  7. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
    Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
    Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION, BINDING TO PHOSPHOINOSITIDES.
  8. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
    Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
    PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, INTERACTION WITH SMO, SUBCELLULAR LOCATION.
  9. Cited for: VARIANT BBS5 SER-72, VARIANTS SER-184 AND ASP-251.

Entry informationi

Entry nameiBBS5_HUMAN
AccessioniPrimary (citable) accession number: Q8N3I7
Secondary accession number(s): D3DPC3, Q6PKN0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: October 1, 2002
Last modified: November 26, 2014
This is version 108 of the entry and version 1 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

Miscellaneous

BBS5 may interact genetically with BBS1.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3