BBS5: Difference between revisions

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{{Infobox_gene}}
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'''Bardet-Biedl syndrome 5 protein''' is a [[protein]] that in humans is encoded by the ''BBS5'' [[gene]].<ref name="pmid9888993">{{cite journal | vauthors = Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS | title = Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus | journal = Genomics | volume = 55 | issue = 1 | pages = 2–9 |date=Mar 1999 | pmid = 9888993 | pmc =  | doi = 10.1006/geno.1998.5626 }}</ref><ref name="pmid10053027">{{cite journal | vauthors = Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS | title = A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 | journal = Am J Hum Genet | volume = 64 | issue = 3 | pages = 900–4 |date=Apr 1999 | pmid = 10053027 | pmc = 1377810 | doi = 10.1086/302301 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BBS5 Bardet-Biedl syndrome 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=129880| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Bardet-Biedl syndrome 5
| HGNCid = 970
| Symbol = BBS5
| AltSymbols =;
| OMIM = 603650
| ECnumber =
| Homologene = 12471
| MGIid = 1919819
  | GeneAtlas_image1 = PBB_GE_BBS5_gnf1h08038_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}  
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 129880
    | Hs_Ensembl =
    | Hs_RefseqProtein = XP_001131828
    | Hs_RefseqmRNA = XM_001131828
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr =
    | Hs_GenLoc_start =
    | Hs_GenLoc_end =
    | Hs_Uniprot = 
    | Mm_EntrezGene = 72569
    | Mm_Ensembl = ENSMUSG00000063145
    | Mm_RefseqmRNA = NM_028284
    | Mm_RefseqProtein = NP_082560
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 69448094
    | Mm_GenLoc_end = 69468408
    | Mm_Uniprot = Q9CZQ9
  }}
}}
'''Bardet-Biedl syndrome 5''', also known as '''BBS5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BBS5 Bardet-Biedl syndrome 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=129880| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes a protein that has been directly linked to [[Bardet-Biedl syndrome]]. The primary features of this syndrome include [[retinal dystrophy]], [[obesity]], [[polydactyly]], renal abnormalities and learning disabilities. Experimentation in non-human [[eukaryote]]s suggests that this gene is expressed in ciliated cells and that it is required for the formation of [[cilia]]. Alternate transcriptional splice variants have been observed but have not been fully characterized.<ref name="entrez">{{cite web | title = Entrez Gene: BBS5 Bardet-Biedl syndrome 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=129880| accessdate = }}</ref>
| summary_text = This gene encodes a protein that has been directly linked to [[Bardet-Biedl syndrome]]. The primary features of this syndrome include [[retinopathy|retinal dystrophy]], [[obesity]], [[polydactyly]], renal abnormalities and learning disabilities. Experimentation in non-human [[eukaryote]]s suggests that this gene is expressed in ciliated cells and that it is required for the formation of [[cilia]]. Alternate transcriptional splice variants have been observed but have not been fully characterized.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs  GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Hillier LD, Lennon G, Becker M, ''et al.'' |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807-28 |year= 1997 |pmid= 8889549 |doi= }}
*{{cite journal  | author=Hillier LD |title=Generation and analysis of 280,000 human expressed sequence tags |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=10.1101/gr.6.9.807 |name-list-format=vanc| author2=Lennon G  | author3=Becker M  | display-authors=3  | last4=Bonaldo  | first4=M F  | last5=Chiapelli | first5=B  | last6=Chissoe  | first6=S  | last7=Dietrich  | first7=N  | last8=Dubuque  | first8=T  | last9=Favello  | first9=A }}
*{{cite journal | author=Woods MO, Young TL, Parfrey PS, ''et al.'' |title=Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. |journal=Genomics |volume=55 |issue= 1 |pages= 2-9 |year= 1999 |pmid= 9888993 |doi= 10.1006/geno.1998.5626 }}
*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal | author=Young TL, Penney L, Woods MO, ''et al.'' |title=A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. |journal=Am. J. Hum. Genet. |volume=64 |issue= 3 |pages= 900-4 |year= 1999 |pmid= 10053027 |doi=  }}
*{{cite journal  | author=Wiemann S |title=Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R  | pmc=311072  |name-list-format=vanc| author2=Weil B  | author3=Wellenreuther R  | display-authors=3  | last4=Gassenhuber  | first4=J  | last5=Glassl  | first5=S  | last6=Ansorge  | first6=W  | last7=Böcher  | first7=M  | last8=Blöcker  | first8=H  | last9=Bauersachs  | first9=S }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | author=Simpson JC |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732  |name-list-format=vanc| author2=Wellenreuther R  | author3=Poustka A  | display-authors=3  | last4=Pepperkok  | first4=R  | last5=Wiemann  | first5=S }}
*{{cite journal  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal  | author=Strausberg RL |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 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal  | author=Ota T |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 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{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=Li JB |title=Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene |journal=Cell |volume=117 |issue= 4 |pages= 541–52 |year= 2004 |pmid= 15137946 |doi=10.1016/S0092-8674(04)00450-7  |name-list-format=vanc| author2=Gerdes JM  | author3=Haycraft CJ  | display-authors=3  | last4=Fan  | first4=Yanli  | last5=Teslovich  | first5=Tanya M  | last6=May-Simera  | first6=Helen  | last7=Li  | first7=Haitao  | last8=Blacque  | first8=Oliver E  | last9=Li  | first9=Linya }}
*{{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=Suzuki Y |title=Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 | pmc=515316  |name-list-format=vanc| author2=Yamashita R  | author3=Shirota M  | display-authors=3  | last4=Sakakibara  | first4=Y  | last5=Chiba  | first5=J  | last6=Mizushima-Sugano  | first6=J  | last7=Nakai  | first7=K  | last8=Sugano  | first8=S }}
*{{cite journal  | author=Li JB, Gerdes JM, Haycraft CJ, ''et al.'' |title=Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. |journal=Cell |volume=117 |issue= 4 |pages= 541-52 |year= 2004 |pmid= 15137946 |doi=  }}
*{{cite journal  | author=Gerhard DS |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 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Suzuki Y, Yamashita R, Shirota M, ''et al.'' |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711-8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 }}
*{{cite journal  | author=Wiemann S |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930  |name-list-format=vanc| author2=Arlt D  | author3=Huber W  | display-authors=3  | last4=Wellenreuther  | first4=R  | last5=Schleeger  | first5=S  | last6=Mehrle  | first6=A  | last7=Bechtel  | first7=S  | last8=Sauermann  | first8=M  | last9=Korf  | first9=U }}
*{{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=Hillier LW |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4 |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |name-list-format=vanc| author2=Graves TA  | author3=Fulton RS  | display-authors=3  | last4=Fulton  | first4=Lucinda A.  | last5=Pepin  | first5=Kymberlie H.  | last6=Minx  | first6=Patrick  | last7=Wagner-Mcpherson  | first7=Caryn  | last8=Layman  | first8=Dan  | last9=Wylie  | first9=Kristine }}
*{{cite journal  | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal  | author=Mehrle A |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501  |name-list-format=vanc| author2=Rosenfelder H  | author3=Schupp I  | display-authors=3  | last4=Del Val  | first4=C  | last5=Arlt  | first5=D  | last6=Hahne  | first6=F  | last7=Bechtel  | first7=S  | last8=Simpson  | first8=J  | last9=Hofmann  | first9=O }}
*{{cite journal  | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724-31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal  | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
}}
}}
{{refend}}
{{refend}}
==External links==
* {{UCSC genome browser|BBS5}}
* {{UCSC gene details|BBS5}}
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{{Ciliary proteins}}


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{{protein-stub}}
{{WikiDoc Sources}}

Latest revision as of 02:30, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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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 5 protein is a protein that in humans is encoded by the BBS5 gene.[1][2][3]

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.[3]

References

  1. ↑ Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics. 55 (1): 2–9. doi:10.1006/geno.1998.5626. PMID 9888993.
  2. ↑ Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS (Apr 1999). "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31". Am J Hum Genet. 64 (3): 900–4. doi:10.1086/302301. PMC 1377810. PMID 10053027.
  3. ↑ 3.0 3.1 "Entrez Gene: BBS5 Bardet-Biedl syndrome 5".

External links

Further reading

External links



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