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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Bardet-Biedl syndrome 4''' is a [[protein]] that in humans is encoded by the ''BBS4'' [[gene]].<ref name="pmid7711739">{{cite journal | vauthors = Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC | title = Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15 | journal = Human Molecular Genetics | volume = 4 | issue = 1 | pages = 9–13 | date = Jan 1995 | pmid = 7711739 | pmc =  | doi = 10.1093/hmg/4.1.9 }}</ref><ref name="pmid11381270">{{cite journal | vauthors = 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 | title = Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 | journal = Nature Genetics | volume = 28 | issue = 2 | pages = 188–91 | date = Jun 2001 | pmid = 11381270 | pmc = | doi = 10.1038/88925 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = }}</ref>
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| update_protein_box = yes
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| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
This gene encodes a protein which contains [[tetratricopeptide]] repeats (TPR), similar to [[OGT (gene)|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]], [[kidney|renal]] malformation and [[mental retardation]].<ref name="entrez" />
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Bardet-Biedl syndrome 4
| HGNCid = 969
| Symbol = BBS4
| AltSymbols =;
| OMIM = 600374
| ECnumber = 
| Homologene = 13197
| MGIid = 2143311
| GeneAtlas_image1 = PBB_GE_BBS4_212744_at_tn.png
| GeneAtlas_image2 = PBB_GE_BBS4_212745_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005488 |text = binding}}
| Component = {{GNF_GO|id=GO:0005813 |text = centrosome}}
| Process = {{GNF_GO|id=GO:0000226 |text = microtubule cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0001843 |text = neural tube closure}} {{GNF_GO|id=GO:0001895 |text = retinal homeostasis}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007608 |text = sensory perception of smell}} {{GNF_GO|id=GO:0016358 |text = dendrite development}} {{GNF_GO|id=GO:0019216 |text = regulation of lipid metabolic process}} {{GNF_GO|id=GO:0030534 |text = adult behavior}} {{GNF_GO|id=GO:0035058 |text = sensory cilium biogenesis}} {{GNF_GO|id=GO:0045724 |text = positive regulation of flagellum biogenesis}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 585
    | Hs_Ensembl = ENSG00000140463
    | Hs_RefseqProtein = NP_149017
    | Hs_RefseqmRNA = NM_033028
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 70765588
    | Hs_GenLoc_end = 70817869
    | Hs_Uniprot = Q96RK4
    | Mm_EntrezGene = 102774
    | Mm_Ensembl = ENSMUSG00000025235
    | Mm_RefseqmRNA = NM_175325
    | Mm_RefseqProtein = NP_780534
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 59120876
    | Mm_GenLoc_end = 59143857
    | Mm_Uniprot = Q562E1
  }}
}}
'''Bardet-Biedl syndrome 4''', also known as '''BBS4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Interactions ==
{{PBB_Summary
| section_title =  
| summary_text = This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine 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.<ref name="entrez">{{cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = }}</ref>
}}


==References==
BBS4 has been shown to [[Protein-protein interaction|interact]] with [[DCTN1]].<ref name=pmid15107855>{{cite journal | vauthors = 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 | title = The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | journal = Nature Genetics | volume = 36 | issue = 5 | pages = 462–70 | date = May 2004 | pmid = 15107855 | doi = 10.1038/ng1352 }}</ref>
{{reflist|2}}
 
==Further reading==
== References ==
{{reflist}}
{{Clear}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Haftek J, Krawczykowa Z, Stankiewicz A, Araszkiewicz H, Goś R, Kasprzak H | title = [Ocular manifestations in orbital fractures] | journal = Klinika Oczna | volume = 45 | issue = 6 | pages = 655–9  | date = Jun 1975 | pmid = 1138127 | doi =  }}
| citations =
* {{cite journal | vauthors = 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 | title = Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21 | journal = Genomics | volume = 41 | issue = 1 | pages = 93–9  | date = Apr 1997 | pmid = 9126487 | doi = 10.1006/geno.1997.4613 }}
*{{cite journal | author=Haftek J, Krawczykowa Z, Stankiewicz A, ''et al.'' |title=[Ocular manifestations in orbital fractures] |journal=Klinika oczna |volume=45 |issue= 6 |pages= 655-9 |year= 1975 |pmid= 1138127 |doi=  }}
* {{cite journal | vauthors = Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR | title = BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance | journal = American Journal of Human Genetics | volume = 71 | issue = 1 | pages = 22–9  | date = Jul 2002 | pmid = 12016587 | pmc = 384990 | doi = 10.1086/341031 }}
*{{cite journal | author=Carmi R, Rokhlina T, Kwitek-Black AE, ''et al.'' |title=Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 9-13 |year= 1995 |pmid= 7711739 |doi=  }}
* {{cite journal | vauthors = Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC | title = The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene | journal = Archives of Ophthalmology | volume = 120 | issue = 10 | pages = 1364–7  | date = Oct 2002 | pmid = 12365916 | doi = 10.1001/archopht.120.10.1364 }}
*{{cite journal  | author=Bruford EA, Riise R, Teague PW, ''et al.'' |title=Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. |journal=Genomics |volume=41 |issue= 1 |pages= 93-9 |year= 1997 |pmid= 9126487 |doi= 10.1006/geno.1997.4613 }}
* {{cite journal | vauthors = Hoskins BE, Thorn A, Scambler PJ, Beales PL | title = Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique | journal = Human Mutation | volume = 22 | issue = 2 | pages = 151–7 | year = 2004 | date = Aug 2003 | pmid = 12872256 | doi = 10.1002/humu.10241 }}
*{{cite journal | author=Mykytyn K, Braun T, Carmi R, ''et al.'' |title=Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 188-91 |year= 2001 |pmid= 11381270 |doi= 10.1038/88925 }}
* {{cite journal | vauthors = 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 | title = The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | journal = Nature Genetics | volume = 36 | issue = 5 | pages = 462–70  | date = May 2004 | pmid = 15107855 | doi = 10.1038/ng1352 }}
*{{cite journal  | author=Katsanis N, Eichers ER, Ansley SJ, ''et al.'' |title=BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. |journal=Am. J. Hum. Genet. |volume=71 |issue= 1 |pages= 22-9 |year= 2002 |pmid= 12016587 |doi= }}
* {{cite journal | vauthors = Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y | title = Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4) | journal = DNA Sequence : The Journal of DNA Sequencing and Mapping | volume = 15 | issue = 3 | pages = 213–8 | year = 2005 | date = Jun 2004 | pmid = 15497446 | doi = 10.1080/10425170410001679165 }}
*{{cite journal | author=Riise R, Tornqvist K, Wright AF, ''et al.'' |title=The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. |journal=Arch. Ophthalmol. |volume=120 |issue= 10 |pages= 1364-7 |year= 2002 |pmid= 12365916 |doi= }}
* {{cite journal|authorlink30=Huda Zoghbi | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8  | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151-7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Kim JC, Badano JL, Sibold S, ''et al.'' |title=The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. |journal=Nat. Genet. |volume=36 |issue= 5 |pages= 462-70 |year= 2004 |pmid= 15107855 |doi= 10.1038/ng1352 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Ye X, Dai J, Fang W, ''et al.'' |title=Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). |journal=DNA Seq. |volume=15 |issue= 3 |pages= 213-8 |year= 2005 |pmid= 15497446 |doi= }}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs  GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
* {{UCSC gene info|BBS4}}
 
{{Ciliary proteins}}
 
 
{{gene-15-stub}}

Revision as of 16:49, 8 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 3.0 3.1 "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


Retrieved from "https://www.wikidoc.org/index.php?title=BBS4&oldid=1417120"