Q8N3I7 (BBS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bardet-Biedl syndrome 5 protein

Gene names

Name:

BBS5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	341 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.7
Subunit structure	Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Binds to phosphoinositides. Interacts with CCDC28B. Ref.6 Ref.7
Subcellular location	Cell projection › cilium membrane. Cytoplasm. Cytoplasm › cytoskeleton › cilium basal body By similarity. Note: Localizes to basal bodies By similarity. Localizes to nonmembranous centriolar satellites. Ref.7
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8
Miscellaneous	BBS5 may interact genetically with BBS1.
Sequence similarities	Belongs to the BBS5 family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Mental retardation Obesity
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from mutant phenotype Ref.7. Source: BHF-UCL flagellum assembly Inferred from sequence or structural similarity. Source: BHF-UCL heart looping Inferred from sequence or structural similarity. Source: BHF-UCL melanosome transport Inferred from sequence or structural similarity. Source: BHF-UCL response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	BBSome Inferred from direct assay Ref.7. Source: BHF-UCL cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule basal body Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular_function	phosphatidylinositol-3-phosphate binding Inferred from direct assay Ref.7. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BBS9	Q3SYG4	3	EBI-2892592,EBI-2826852

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N3I7-1)

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.

Isoform 2 (identifier: Q8N3I7-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 341	341	Bardet-Biedl syndrome 5 protein		PRO_0000223254
Natural variations
	Alternative sequence	207 – 227	21	Missing in isoform 2.		VSP_017240
	Natural variant	72	1	G → S in BBS5. Ref.8		VAR_066290
	Natural variant	184	1	N → S Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes; might have a modifying effect on disease phenotype. Ref.1 Ref.8 Corresponds to variant rs150063999 [ dbSNP | Ensembl ].		VAR_025316
	Natural variant	207	1	R → H Found as heterozygous variant in patients with Bardet-Biedl syndrome; might have a modifying effect on disease phenotype. Ref.1 Corresponds to variant rs35487251 [ dbSNP | Ensembl ].		VAR_025317
	Natural variant	251	1	N → D. Ref.8 Corresponds to variant rs143113298 [ dbSNP | Ensembl ].		VAR_066291

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 63D67D877FDFD25B	FASTA	341	38,755
	10 20 30 40 50 60 MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH 70 80 90 100 110 120 SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL 130 140 150 160 170 180 FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF 190 200 210 220 230 240 FITNVRIVWH ANMNDSFNVS IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV 250 260 270 280 290 300 EKLQESVKEI NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDGHTDAFV 310 320 330 340 AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S
	Isoform 2 [UniParc]. Checksum: 843BC731AE686410	FASTA	320	36,397
	10 20 30 40 50 60 MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH 70 80 90 100 110 120 SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL 130 140 150 160 170 180 FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF 190 200 210 220 230 240 FITNVRIVWH ANMNDSFNVS IPYLQISGGY VLGFKIDPVE KLQESVKEIN SLHKVYSASP 250 260 270 280 290 300 IFGVDYEMEE KPQPLEALTV EQIQDDVEID SDGHTDAFVA YFADGNKQQD REPVFSEELG 310 320 LAIEKLKDGF TLQGLWEVMS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene." Li J.B., Gerdes J.M., Haycraft C.J., Fan Y., Teslovich T.M., May-Simera H., Li H., Blacque O.E., Li L., Leitch C.C., Lewis R.A., Green J.S., Parfrey P.S., Leroux M.R., Davidson W.S., Beales P.L., Guay-Woodford L.M., Yoder B.K. , Stormo G.D., Katsanis N., Dutcher S.K. Cell 117:541-552(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INVOLVEMENT IN BBS5, VARIANTS SER-184 AND HIS-207.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]	"Dissection of epistasis in oligogenic Bardet-Biedl syndrome." Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N. Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract] 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]	"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. , Mitchell G.A., Boycott K., Heon E. Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS5 SER-72, VARIANTS SER-184 AND ASP-251.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00449306. IPI00719289.
RefSeq	NP_689597.1. NM_152384.2.
UniGene	Hs.233398.
3D structure databases
ProteinModelPortal	Q8N3I7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N3I7. 8 interactions.
STRING	9606.ENSP00000295240.
PTM databases
PhosphoSite	Q8N3I7.
Polymorphism databases
DMDM	74750959.
Proteomic databases
PaxDb	Q8N3I7.
PRIDE	Q8N3I7.
Protocols and materials databases
DNASU	129880.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295240; ENSP00000295240; ENSG00000163093. ENST00000392663; ENSP00000376431; ENSG00000163093.
GeneID	129880.
KEGG	hsa:129880.
UCSC	uc002uet.3. human. uc010fpw.3. human.
Organism-specific databases
CTD	129880.
GeneCards	GC02P170335.
HGNC	HGNC:970. BBS5.
HPA	HPA036416.
MIM	209900. phenotype. 603650. gene.
neXtProt	NX_Q8N3I7.
Orphanet	110. Bardet-Biedl syndrome.
PharmGKB	PA25279.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG82102.
HOGENOM	HOG000231964.
HOVERGEN	HBG053449.
InParanoid	Q8N3I7.
KO	K16748.
OMA	YSANPIF.
OrthoDB	EOG45QHDG.
PhylomeDB	Q8N3I7.
Gene expression databases
ArrayExpress	Q8N3I7.
Bgee	Q8N3I7.
CleanEx	HS_BBS5.
Genevestigator	Q8N3I7.
GermOnline	ENSG00000163093. Homo sapiens.
Family and domain databases
InterPro	IPR006606. BBL5. [Graphical view]
PANTHER	PTHR21351. PTHR21351. 1 hit.
Pfam	PF07289. DUF1448. 1 hit. [Graphical view]
PIRSF	PIRSF010072. DUF1448. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	129880.
NextBio	82665.
SOURCE	Search...

Entry information

Entry name

BBS5_HUMAN

Accession

Primary (citable) accession number: Q8N3I7
Secondary accession number(s): D3DPC3, Q6PKN0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 7, 2006
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.