BBS4

Bardet-Biedl syndrome 4
Identifiers
Symbol	BBS4
External IDs	OMIM: 600374 MGI: 2143311 HomoloGene: 13197 GeneCards: BBS4 Gene
Gene ontology Molecular function • RNA polymerase II repressing transcription factor binding • microtubule motor activity • protein binding • dynactin binding • alpha-tubulin binding • beta-tubulin binding Cellular component • pericentriolar material • photoreceptor outer segment • photoreceptor inner segment • nucleus • centrosome • centriole • cytosol • cilium • nonmotile primary cilium • motile cilium • photoreceptor connecting cilium • centriolar satellite • BBSome • ciliary transition zone • ciliary basal body • ciliary membrane Biological process • microtubule cytoskeleton organization • mitotic cytokinesis • neural tube closure • retina homeostasis • heart looping • negative regulation of systemic arterial blood pressure • organelle organization • spermatid development • visual perception • sensory perception of smell • negative regulation of gene expression • protein transport • dendrite development • regulation of lipid metabolic process • ventricular system development • striatum development • hippocampus development • cerebral cortex development • adult behavior • negative regulation of actin filament polymerization • melanosome transport • regulation of cytokinesis • protein localization to organelle • negative regulation of GTPase activity • microtubule anchoring at centrosome • nonmotile primary cilium assembly • social behavior • photoreceptor cell outer segment organization • negative regulation of appetite by leptin-mediated signaling pathway • positive regulation of multicellular organism growth • cilium assembly • fat cell differentiation • photoreceptor cell maintenance • positive regulation of cilium assembly • retinal rod cell development • intracellular transport • brain morphogenesis • sensory processing • centrosome organization • maintenance of protein location in nucleus • regulation of stress fiber assembly • cilium morphogenesis • regulation of cilium beat frequency involved in ciliary motility • face development • fat pad development • protein localization to cilium • protein localization to centrosome • regulation of nonmotile primary cilium assembly • protein localization to photoreceptor outer segment Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	585	102774
Ensembl	ENSG00000140463	ENSMUSG00000025235
UniProt	Q96RK4	Q8C1Z7
RefSeq (mRNA)	NM_001252678	NM_175325
RefSeq (protein)	NP_001239607	NP_780534
Location (UCSC)	Chr 15: 72.69 – 72.74 Mb	Chr 9: 59.32 – 59.35 Mb
PubMed search

Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.^[1][2][3]

This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.^[3]

Interactions

BBS4 has been shown to interact with DCTN1.^[4]

References

1. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (Jan 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics 4 (1): 9–13. doi:10.1093/hmg/4.1.9. PMID 7711739.
2. Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (Jun 2001). "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nature Genetics 28 (2): 188–91. doi:10.1038/88925. PMID 11381270.
3. "Entrez Gene: BBS4 Bardet-Biedl syndrome 4".
4. Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.

Further reading

• Haftek J, Krawczykowa Z, Stankiewicz A, Araszkiewicz H, Goś R, Kasprzak H (Jun 1975). "[Ocular manifestations in orbital fractures]". Klinika Oczna 45 (6): 655–9. PMID 1138127.
• Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF (Apr 1997). "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21". Genomics 41 (1): 93–9. doi:10.1006/geno.1997.4613. PMID 9126487.
• Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (Jul 2002). "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance". American Journal of Human Genetics 71 (1): 22–9. doi:10.1086/341031. PMC 384990. PMID 12016587.
• Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC (Oct 2002). "The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene". Archives of Ophthalmology 120 (10): 1364–7. doi:10.1001/archopht.120.10.1364. PMID 12365916.
• Hoskins BE, Thorn A, Scambler PJ, Beales PL (Aug 2003). "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique". Human Mutation 22 (2): 151–7. doi:10.1002/humu.10241. PMID 12872256. Check date values in: |year= / |date= mismatch (help)
• Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
• Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y (Jun 2004). "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)". DNA Sequence : The Journal of DNA Sequencing and Mapping 15 (3): 213–8. doi:10.1080/10425170410001679165. PMID 15497446. Check date values in: |year= / |date= mismatch (help)
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome