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Q8C1Z7 (BBS4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bardet-Biedl syndrome 4 protein homolog
Gene names
Name:Bbs4
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome By similarity.

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB. Ref.6

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Cell projectioncilium membrane By similarity. Cytoplasm By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity. Cell projectionciliumflagellum. Note: Localizes to the pericentriolar material. Centrosomal localization requires dynein. Ref.4 Ref.6

Tissue specificity

Expressed in the hippocampus and dentate gyrus, the columnar epithelial cells of bronchioles, the olfactory epithelium and the inner segment and outer nuclear layer of the retina. Expressed in testis. Ref.4 Ref.6

Developmental stage

Expressed in the pericardium of the developing embryo and in the epidermal layer surrounding the digits. Ref.4

Disruption phenotype

Males are sterile due to a loss of sperm flagella. In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptin. Although mice are resistant to the metabolic actions of leptin, animals remain responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and developed hypertension. BBS mice have decreased hypothalamic expression of proopiomelanocortin (POMC). BBS genes play an important role in maintaining leptin sensitivity in POMC neurons. Ref.5 Ref.6

Sequence similarities

Belongs to the BBS4 family.

Contains 10 TPR repeats.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   DomainRepeat
TPR repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult behavior

Inferred from mutant phenotype PubMed 15539463. Source: MGI

brain morphogenesis

Inferred from mutant phenotype PubMed 18032602. Source: MGI

centrosome organization

Inferred from sequence or structural similarity. Source: UniProtKB

cerebral cortex development

Inferred from mutant phenotype PubMed 18032602. Source: MGI

cilium assembly

Inferred from mutant phenotype PubMed 18299575. Source: BHF-UCL

cilium morphogenesis

Inferred from mutant phenotype PubMed 18299575. Source: BHF-UCL

dendrite development

Inferred from mutant phenotype PubMed 15322545. Source: MGI

fat cell differentiation

Inferred from expression pattern PubMed 17379567. Source: BHF-UCL

hippocampus development

Inferred from mutant phenotype PubMed 18032602. Source: MGI

leptin-mediated signaling pathway

Inferred from mutant phenotype PubMed 19150989. Source: MGI

maintenance of protein location in nucleus

Inferred from electronic annotation. Source: Ensembl

metabolic process

Inferred from sequence or structural similarity. Source: GOC

microtubule anchoring at centrosome

Inferred from electronic annotation. Source: Ensembl

microtubule cytoskeleton organization

Inferred from mutant phenotype PubMed 15322545. Source: MGI

mitotic cytokinesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of appetite by leptin-mediated signaling pathway

Inferred from mutant phenotype PubMed 19150989. Source: BHF-UCL

negative regulation of gene expression

Inferred from mutant phenotype Ref.5PubMed 19150989. Source: MGI

negative regulation of systemic arterial blood pressure

Inferred from mutant phenotype Ref.5. Source: MGI

neural tube closure

Inferred from mutant phenotype PubMed 16170314. Source: MGI

nonmotile primary cilium assembly

Inferred from mutant phenotype PubMed 15322545PubMed 16170314. Source: MGI

photoreceptor cell maintenance

Inferred from mutant phenotype PubMed 17591906PubMed 20398886. Source: MGI

positive regulation of cilium assembly

Inferred from mutant phenotype PubMed 15173597. Source: MGI

positive regulation of multicellular organism growth

Inferred from mutant phenotype Ref.5. Source: MGI

protein localization

Inferred from mutant phenotype PubMed 22228099. Source: MGI

protein localization to centrosome

Inferred from electronic annotation. Source: Ensembl

protein localization to organelle

Inferred from direct assay PubMed 18334641. Source: BHF-UCL

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of cilium beat frequency involved in ciliary motility

Inferred from mutant phenotype PubMed 18299575. Source: BHF-UCL

regulation of cytokinesis

Inferred from electronic annotation. Source: Ensembl

regulation of lipid metabolic process

Inferred from mutant phenotype PubMed 15173597. Source: MGI

response to leptin

Inferred from mutant phenotype Ref.5. Source: MGI

retina homeostasis

Inferred from mutant phenotype PubMed 15173597PubMed 15322545. Source: MGI

retinal rod cell development

Inferred from mutant phenotype PubMed 15173597. Source: MGI

sensory perception of smell

Inferred from mutant phenotype PubMed 15322545. Source: MGI

spermatid development

Inferred from mutant phenotype PubMed 15173597. Source: MGI

striatum development

Inferred from mutant phenotype PubMed 18032602. Source: MGI

   Cellular_componentBBSome

Inferred from direct assay PubMed 20080638PubMed 22500027. Source: MGI

centriolar satellite

Inferred from sequence or structural similarity. Source: UniProtKB

centriole

Inferred from electronic annotation. Source: Ensembl

centrosome

Inferred from direct assay PubMed 15649943. Source: MGI

ciliary basal body

Inferred from sequence orthology PubMed 22922713. Source: MGI

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cilium

Inferred from sequence or structural similarity. Source: UniProtKB

motile cilium

Inferred from mutant phenotype PubMed 18299575. Source: BHF-UCL

nonmotile primary cilium

Inferred from electronic annotation. Source: Ensembl

pericentriolar material

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionmicrotubule motor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520Bardet-Biedl syndrome 4 protein homolog
PRO_0000106264

Regions

Repeat67 – 10034TPR 1
Repeat102 – 13433TPR 2
Repeat135 – 16733TPR 3
Repeat168 – 20134TPR 4
Repeat203 – 23533TPR 5
Repeat237 – 26933TPR 6
Repeat270 – 30334TPR 7
Repeat304 – 33734TPR 8
Repeat339 – 37133TPR 9
Repeat373 – 40836TPR 10
Region1 – 6666Required for localization to centrosomes By similarity
Region101 – 337237Interaction with PCM1 By similarity
Region338 – 520183Required for localization to centrosomes By similarity

Experimental info

Sequence conflict5151E → V in AAH92531. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8C1Z7 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 70640E41509F2479

FASTA52058,255
        10         20         30         40         50         60 
MAEVKLGMKT QVPASVESQK PRSKKAPDFP IVEKQNWLIH LHYIRKDYEA CKAVIKEQLQ 

        70         80         90        100        110        120 
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQC ADNLKQVARS LFLLGKHKAA 

       130        140        150        160        170        180 
TEVYNEAAKL NQKDWEICHN LGVCYTYLKQ FNKAQDQLHS ALQLNKHDLT YIMLGKIHLL 

       190        200        210        220        230        240 
QGDLDKAIEI YKKAVEFSPE NTELLTTLGL LYLQLGVYQK AFEHLGNALT YDPANYKAIL 

       250        260        270        280        290        300 
AAGSMMQTHG DFDVALTKYR VVACAIPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 

       310        320        330        340        350        360 
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENARRA 

       370        380        390        400        410        420 
YVEAVRLDKC NPLVNLNYAV LLYNQGEKKS ALAQYQEMEK KVNFLKDNSP LEFDSEMVEM 

       430        440        450        460        470        480 
AQKLGAALQV GEALVWTKPV KDPKTKHRTN SGSKSATLQQ PLGSIQALGQ AMSSAAAYRK 

       490        500        510        520 
ILSGAVGAQL PKPPSLPLEP EPEPTVEASP TEASEQKKEK 

« Hide

References

« Hide 'large scale' references
[1]"BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance."
Katsanis N., Eichers E.R., Ansley S.J., Lewis R.A., Kayserili H., Hoskins B.E., Scambler P.J., Beales P.L., Lupski J.R.
Am. J. Hum. Genet. 71:22-29(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6J.
Tissue: Medulla oblongata.
[3]"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].
Strain: C57BL/6.
Tissue: Brain and Pituitary.
[4]"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression."
Kim J.C., Badano J.L., Sibold S., Esmail M.A., Hill J., Hoskins B.E., Leitch C.C., Venner K., Ansley S.J., Ross A.J., Leroux M.R., Katsanis N., Beales P.L.
Nat. Genet. 36:462-470(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[5]"Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome."
Rahmouni K., Fath M.A., Seo S., Thedens D.R., Berry C.J., Weiss R., Nishimura D.Y., Sheffield V.C.
J. Clin. Invest. 118:1458-1467(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: DISRUPTION PHENOTYPE.
[6]"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: IDENTIFICATION IN THE BBSOME COMPLEX, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK039560 mRNA. Translation: BAC30384.1.
AK089970 mRNA. Translation: BAC41021.1.
AK134734 mRNA. Translation: BAE22262.1.
BC055797 mRNA. Translation: AAH55797.1.
BC089507 mRNA. Translation: AAH89507.1. Different termination.
BC092531 mRNA. Translation: AAH92531.1. Different termination.
CCDSCCDS40658.1.
RefSeqNP_780534.1. NM_175325.3.
UniGeneMm.200714.

3D structure databases

ProteinModelPortalQ8C1Z7.
SMRQ8C1Z7. Positions 76-397.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid221946. 2 interactions.
DIPDIP-60352N.
IntActQ8C1Z7. 3 interactions.

PTM databases

PhosphoSiteQ8C1Z7.

Proteomic databases

MaxQBQ8C1Z7.
PRIDEQ8C1Z7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000026265; ENSMUSP00000026265; ENSMUSG00000025235.
GeneID102774.
KEGGmmu:102774.
UCSCuc009pxr.2. mouse.

Organism-specific databases

CTD585.
MGIMGI:2143311. Bbs4.

Phylogenomic databases

eggNOGCOG0457.
GeneTreeENSGT00530000063455.
HOGENOMHOG000261391.
HOVERGENHBG024456.
InParanoidQ8C1Z7.
KOK16531.
OMADLTYMML.
OrthoDBEOG7PS1HB.
PhylomeDBQ8C1Z7.
TreeFamTF324966.

Gene expression databases

ArrayExpressQ8C1Z7.
BgeeQ8C1Z7.
CleanExMM_BBS4.
GenevestigatorQ8C1Z7.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR028786. BBS4.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERPTHR23083:SF389. PTHR23083:SF389. 1 hit.
PfamPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 8 hits.
[Graphical view]
PROSITEPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio355647.
PROQ8C1Z7.
SOURCESearch...

Entry information

Entry nameBBS4_MOUSE
AccessionPrimary (citable) accession number: Q8C1Z7
Secondary accession number(s): Q3UYF0 expand/collapse secondary AC list , Q562E1, Q5EBJ7, Q8CA57
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot