Q8C1Z7 (BBS4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bardet-Biedl syndrome 4 protein homolog

Gene names

Name:

Bbs4

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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 By similarity.
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. Interacts with DCTN1 By similarity. Interacts with CCDC28B By similarity.
Subcellular location	Cytoplasm › cytoskeleton › centrosome By similarity. Cell projection › cilium membrane By similarity. Cytoplasm By similarity. Note: Localizes to the pericentriolar material. Centrosomal localization requires dynein. Localizes to nonmembranous centriolar satellites in the cytoplasm By similarity. Ref.4
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. Ref.4
Developmental stage	Expressed in the pericardium of the developing embryo and in the epidermal layer surrounding the digits. Ref.4
Disruption phenotype	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
Sequence similarities	Belongs to the BBS4 family. Contains 10 TPR repeats.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Cytoskeleton Membrane
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult behavior Inferred from mutant phenotype PubMed 15539463. Source: MGI brain morphogenesis Inferred from mutant phenotype PubMed 18032602. Source: MGI cell cycle cytokinesis Inferred from electronic annotation. Source: Compara centrosome organization Inferred from sequence or structural similarity. Source: UniProtKB cerebral cortex development Inferred from mutant phenotype PubMed 18032602. Source: MGI 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 maintenance of protein location in nucleus Inferred from electronic annotation. Source: Compara microtubule anchoring at centrosome Inferred from electronic annotation. Source: Compara 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 17591906. Source: MGI positive regulation of flagellum 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 to organelle Inferred from direct assay PubMed 18334641. Source: BHF-UCL 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: Compara regulation of lipid metabolic process Inferred from mutant phenotype PubMed 15173597. 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_component	BBSome Inferred from direct assay PubMed 20080638. Source: MGI centriolar satellite Inferred from electronic annotation. Source: Compara centriole Inferred from electronic annotation. Source: Compara cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule basal body Inferred from electronic annotation. Source: Compara motile cilium Inferred from mutant phenotype PubMed 18299575. Source: BHF-UCL nonmotile primary cilium Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: Compara pericentriolar material Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	microtubule motor activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	Bardet-Biedl syndrome 4 protein homolog		PRO_0000106264
Regions
	Repeat	67 – 100	34	TPR 1
	Repeat	102 – 134	33	TPR 2
	Repeat	135 – 167	33	TPR 3
	Repeat	168 – 201	34	TPR 4
	Repeat	203 – 235	33	TPR 5
	Repeat	237 – 269	33	TPR 6
	Repeat	270 – 303	34	TPR 7
	Repeat	304 – 337	34	TPR 8
	Repeat	339 – 371	33	TPR 9
	Repeat	373 – 408	36	TPR 10
	Region	1 – 66	66	Required for localization to centrosomes By similarity
	Region	101 – 337	237	Interaction with PCM1 By similarity
	Region	338 – 520	183	Required for localization to centrosomes By similarity
Experimental info
	Sequence conflict	515	1	E → V in AAH92531. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8C1Z7 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 70640E41509F2479	FASTA	520	58,255
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00224571.
RefSeq	NP_780534.1. NM_175325.3.
UniGene	Mm.200714.
3D structure databases
ProteinModelPortal	Q8C1Z7.
SMR	Q8C1Z7. Positions 70-397.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8C1Z7. 3 interactions.
PTM databases
PhosphoSite	Q8C1Z7.
Proteomic databases
PRIDE	Q8C1Z7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000026265; ENSMUSP00000026265; ENSMUSG00000025235.
GeneID	102774.
KEGG	mmu:102774.
Organism-specific databases
CTD	585.
MGI	MGI:2143311. Bbs4.
Phylogenomic databases
eggNOG	COG0457.
GeneTree	ENSGT00530000063455.
HOGENOM	HOG000261391.
HOVERGEN	HBG024456.
InParanoid	Q8C1Z7.
KO	K16531.
OMA	YNQGEKR.
OrthoDB	EOG4GF3DX.
Gene expression databases
ArrayExpress	Q8C1Z7.
Bgee	Q8C1Z7.
CleanEx	MM_BBS4.
Genevestigator	Q8C1Z7.
GermOnline	ENSMUSG00000025235. Mus musculus.
Family and domain databases
Gene3D	1.25.40.10. 3 hits.
InterPro	IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF07719. TPR_2. 1 hit. [Graphical view]
SMART	SM00028. TPR. 8 hits. [Graphical view]
PROSITE	PS50005. TPR. 8 hits. PS50293. TPR_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	355647.
SOURCE	Search...

Entry information

Entry name

BBS4_MOUSE

Accession

Primary (citable) accession number: Q8C1Z7
Secondary accession number(s): Q3UYF0 , Q562E1, Q5EBJ7, Q8CA57

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2003
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program