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Protein

Bardet-Biedl syndrome 4 protein homolog

Gene

Bbs4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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 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).By similarity

GO - Molecular functioni

  1. alpha-tubulin binding Source: MGI
  2. beta-tubulin binding Source: MGI
  3. dynactin binding Source: MGI
  4. microtubule motor activity Source: UniProtKB
  5. RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

  1. adult behavior Source: MGI
  2. brain morphogenesis Source: MGI
  3. centrosome organization Source: UniProtKB
  4. cerebral cortex development Source: MGI
  5. cilium assembly Source: BHF-UCL
  6. cilium morphogenesis Source: BHF-UCL
  7. dendrite development Source: MGI
  8. fat cell differentiation Source: BHF-UCL
  9. hippocampus development Source: MGI
  10. leptin-mediated signaling pathway Source: MGI
  11. maintenance of protein location in nucleus Source: MGI
  12. metabolic process Source: MGI
  13. microtubule anchoring at centrosome Source: MGI
  14. microtubule cytoskeleton organization Source: MGI
  15. mitotic cytokinesis Source: MGI
  16. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
  17. negative regulation of gene expression Source: MGI
  18. negative regulation of systemic arterial blood pressure Source: MGI
  19. neural tube closure Source: MGI
  20. nonmotile primary cilium assembly Source: MGI
  21. photoreceptor cell maintenance Source: MGI
  22. positive regulation of cilium assembly Source: MGI
  23. positive regulation of multicellular organism growth Source: MGI
  24. protein localization Source: MGI
  25. protein localization to centrosome Source: MGI
  26. protein localization to organelle Source: BHF-UCL
  27. protein transport Source: UniProtKB-KW
  28. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  29. regulation of cytokinesis Source: MGI
  30. regulation of lipid metabolic process Source: MGI
  31. response to leptin Source: MGI
  32. retina homeostasis Source: MGI
  33. retinal rod cell development Source: MGI
  34. sensory perception of smell Source: MGI
  35. spermatid development Source: MGI
  36. striatum development Source: MGI
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 4 protein homolog
Gene namesi
Name:Bbs4
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 9

Organism-specific databases

MGIiMGI:2143311. Bbs4.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Cell projectioncilium membrane By similarity. Cytoplasm By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity. Cell projectionciliumflagellum 2 Publications
Note: Localizes to the pericentriolar material. Centrosomal localization requires dynein.

GO - Cellular componenti

  1. BBSome Source: MGI
  2. centriolar satellite Source: UniProtKB
  3. centriole Source: MGI
  4. centrosome Source: MGI
  5. ciliary basal body Source: MGI
  6. ciliary membrane Source: MGI
  7. cilium Source: UniProtKB
  8. membrane Source: MGI
  9. motile cilium Source: BHF-UCL
  10. nonmotile primary cilium Source: MGI
  11. pericentriolar material Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Disruption phenotypei

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.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Bardet-Biedl syndrome 4 protein homologPRO_0000106264Add
BLAST

Proteomic databases

MaxQBiQ8C1Z7.
PRIDEiQ8C1Z7.

PTM databases

PhosphoSiteiQ8C1Z7.

Expressioni

Tissue specificityi

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.2 Publications

Developmental stagei

Expressed in the pericardium of the developing embryo and in the epidermal layer surrounding the digits.1 Publication

Gene expression databases

BgeeiQ8C1Z7.
CleanExiMM_BBS4.
ExpressionAtlasiQ8C1Z7. baseline and differential.
GenevestigatoriQ8C1Z7.

Interactioni

Subunit structurei

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 and C2CD3. Interacts with PKD1 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi221946. 2 interactions.
DIPiDIP-60352N.
IntActiQ8C1Z7. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8C1Z7.
SMRiQ8C1Z7. Positions 76-397.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati67 – 10034TPR 1Add
BLAST
Repeati102 – 13433TPR 2Add
BLAST
Repeati135 – 16733TPR 3Add
BLAST
Repeati168 – 20134TPR 4Add
BLAST
Repeati203 – 23533TPR 5Add
BLAST
Repeati237 – 26933TPR 6Add
BLAST
Repeati270 – 30334TPR 7Add
BLAST
Repeati304 – 33734TPR 8Add
BLAST
Repeati339 – 37133TPR 9Add
BLAST
Repeati373 – 40836TPR 10Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 6666Required for localization to centrosomesBy similarityAdd
BLAST
Regioni101 – 337237Interaction with PCM1By similarityAdd
BLAST
Regioni338 – 520183Required for localization to centrosomesBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the BBS4 family.Curated
Contains 10 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000261391.
HOVERGENiHBG024456.
InParanoidiQ8C1Z7.
KOiK16531.
OMAiDLTYMML.
OrthoDBiEOG7PS1HB.
PhylomeDBiQ8C1Z7.
TreeFamiTF324966.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR028786. BBS4.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR23083:SF389. PTHR23083:SF389. 1 hit.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8C1Z7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAEVKLGMKT QVPASVESQK PRSKKAPDFP IVEKQNWLIH LHYIRKDYEA
60 70 80 90 100
CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQC
110 120 130 140 150
ADNLKQVARS LFLLGKHKAA TEVYNEAAKL NQKDWEICHN LGVCYTYLKQ
160 170 180 190 200
FNKAQDQLHS ALQLNKHDLT YIMLGKIHLL QGDLDKAIEI YKKAVEFSPE
210 220 230 240 250
NTELLTTLGL LYLQLGVYQK AFEHLGNALT YDPANYKAIL AAGSMMQTHG
260 270 280 290 300
DFDVALTKYR VVACAIPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
310 320 330 340 350
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN
360 370 380 390 400
LEDIENARRA YVEAVRLDKC NPLVNLNYAV LLYNQGEKKS ALAQYQEMEK
410 420 430 440 450
KVNFLKDNSP LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKTKHRTN
460 470 480 490 500
SGSKSATLQQ PLGSIQALGQ AMSSAAAYRK ILSGAVGAQL PKPPSLPLEP
510 520
EPEPTVEASP TEASEQKKEK
Length:520
Mass (Da):58,255
Last modified:March 1, 2003 - v1
Checksum:i70640E41509F2479
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti515 – 5151E → V in AAH92531. (PubMed:15489334)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS40658.1.
RefSeqiNP_780534.1. NM_175325.3.
UniGeneiMm.200714.

Genome annotation databases

EnsembliENSMUST00000026265; ENSMUSP00000026265; ENSMUSG00000025235.
GeneIDi102774.
KEGGimmu:102774.
UCSCiuc009pxr.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS40658.1.
RefSeqiNP_780534.1. NM_175325.3.
UniGeneiMm.200714.

3D structure databases

ProteinModelPortaliQ8C1Z7.
SMRiQ8C1Z7. Positions 76-397.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi221946. 2 interactions.
DIPiDIP-60352N.
IntActiQ8C1Z7. 3 interactions.

PTM databases

PhosphoSiteiQ8C1Z7.

Proteomic databases

MaxQBiQ8C1Z7.
PRIDEiQ8C1Z7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000026265; ENSMUSP00000026265; ENSMUSG00000025235.
GeneIDi102774.
KEGGimmu:102774.
UCSCiuc009pxr.2. mouse.

Organism-specific databases

CTDi585.
MGIiMGI:2143311. Bbs4.

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000261391.
HOVERGENiHBG024456.
InParanoidiQ8C1Z7.
KOiK16531.
OMAiDLTYMML.
OrthoDBiEOG7PS1HB.
PhylomeDBiQ8C1Z7.
TreeFamiTF324966.

Miscellaneous databases

NextBioi355647.
PROiQ8C1Z7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8C1Z7.
CleanExiMM_BBS4.
ExpressionAtlasiQ8C1Z7. baseline and differential.
GenevestigatoriQ8C1Z7.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR028786. BBS4.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR23083:SF389. PTHR23083:SF389. 1 hit.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
  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.
  7. "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals."
    Ye X., Zeng H., Ning G., Reiter J.F., Liu A.
    Proc. Natl. Acad. Sci. U.S.A. 111:2164-2169(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH C2CD3.

Entry informationi

Entry nameiBBS4_MOUSE
AccessioniPrimary (citable) accession number: Q8C1Z7
Secondary accession number(s): Q3UYF0
, Q562E1, Q5EBJ7, Q8CA57
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: March 1, 2003
Last modified: February 4, 2015
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

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.