BBS10

BBS10
Identifikatori
Aliasi	BBS10
Vanjski ID-jevi	OMIM: 610148 MGI: 1919019 HomoloGene: 49781 GeneCards: BBS10
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	76,348,415 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	111,137,588 bp
Ontologija gena
Molekularna funkcija	• nucleotide binding; • GO:0001948, GO:0016582 vezivanje za proteine; • ATP binding;
Ćelijska komponenta	• projekcija ćelije; • Treplja;
Biološki proces	• photoreceptor cell maintenance; • retina homeostasis; • GO:0106159 regulation of protein-containing complex assembly; • chaperone-mediated protein complex assembly; • response to stimulus; • Vid; • non-motile cilium assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	79738
	71769
	ENSG00000179941
	ENSMUSG00000035759
	Q8TAM1
	Q9DBI2
	NM_024685
	NM_027914
	NP_078961
	NP_082190
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Bardet–Biedlov sindrom 10, poznat i kao BBS10 je genetički kodiran.^[5]

Funkcija

Protein Bardet-Biedlov sindroma 10 ima udaljenu homologiju sekvence tipa II šaperonina. Kao molekulski šaperon, ovaj protein može uticati na presavijanje ili stabilnost drugih proteina cilijskih ili baznih tijela. Inhibicija ekspresije ovog proteina narušava ciliogenezu u preadipocitima.^[6]^[7]

Klinički značaj

Mutacije u ovom genu povezane su sa Bardet-Biedlovim sindromom.^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000179941 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035759 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (maj 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nat. Genet. 38 (5): 521–4. doi:10.1038/ng1771. PMID 16582908.
^ "Entrez Gene: Bardet-Biedl syndrome 10".
^ Maruyama, K; Sugano, S (28. 1. 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

Dopunska literatura

Stoetzel C, Muller J, Laurier V, et al. (2007). "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". Am. J. Hum. Genet. 80 (1): 1–11. doi:10.1086/510256. PMC 1785304. PMID 17160889.
Gerth C, Zawadzki RJ, Werner JS, Héon E (2008). "Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography". Vision Res. 48 (3): 392–9. doi:10.1016/j.visres.2007.08.024. PMC 2584151. PMID 17980398.
White DR, Ganesh A, Nishimura D, et al. (2007). "Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10". Eur. J. Hum. Genet. 15 (2): 173–8. doi:10.1038/sj.ejhg.5201736. PMID 17106446.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Dollfus H, Muller J, Stoetzel C, et al. (2006). "[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]" (PDF). Med Sci (Paris). 22 (11): 901–4. doi:10.1051/medsci/20062211901. PMID 17101080.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Marion V, Stoetzel C, Schlicht D, et al. (2009). "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation". Proc. Natl. Acad. Sci. U.S.A. 106 (6): 1820–5. doi:10.1073/pnas.0812518106. PMC 2635307. PMID 19190184.
Laurier V, Stoetzel C, Muller J, et al. (2006). "Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism". Eur. J. Hum. Genet. 14 (11): 1195–203. doi:10.1038/sj.ejhg.5201688. PMID 16823392.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
Bbs10 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)

Šablon:Cilijski proteini

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000179941 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035759 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16582908-5] Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (maj 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nat. Genet. 38 (5): 521–4. doi:10.1038/ng1771. PMID 16582908.

[entrez-6] "Entrez Gene: Bardet-Biedl syndrome 10".

[7] Maruyama, K; Sugano, S (28. 1. 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

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