BBS10

BBS10
Identifiers
Aliases	BBS10, C12orf58, Bardet-Biedl syndrome 10
External IDs	OMIM: 610148; MGI: 1919019; HomoloGene: 49781; GeneCards: BBS10; OMA:BBS10 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	76,348,415 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	111,137,588 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; endothelial cell; ; ventricular zone; ; ganglionic eminence; ; Epithelium of choroid plexus; ; retinal pigment epithelium; ; Brodmann area 23; ; germinal epithelium; ; islet of Langerhans; ; bronchial epithelial cell;
	Top expressed in
	spermatocyte; ; otolith organ; ; spermatid; ; utricle; ; genital tubercle; ; lumbar spinal ganglion; ; seminiferous tubule; ; zygote; ; tail of embryo; ; oocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; protein binding; ATP binding;
Cellular component	cell projection; cilium;
Biological process	photoreceptor cell maintenance; retina homeostasis; regulation of protein-containing complex assembly; chaperone-mediated protein complex assembly; response to stimulus; visual perception; non-motile cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
	79738
	71769
	ENSG00000179941
	ENSMUSG00000035759
	Q8TAM1
	Q9DBI2
	NM_024685
	NM_027914
	NP_078961
	NP_082190
	Wikidata
View/Edit Human	View/Edit Mouse

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.⁵

Function

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.⁶⁷

Clinical significance

Mutations in this gene are associated with the Bardet–Biedl syndrome.⁵

References

GRCh38: Ensembl release 89: ENSG00000179941 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000035759 – Ensembl, May 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.
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, et al. (May 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nature Genetics. 38 (5): 521–524. doi:10.1038/ng1771. PMID 16582908. S2CID 32269156.
"Entrez Gene: Bardet-Biedl syndrome 10".
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

External links

GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
Bbs10 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human BBS10 genome location and BBS10 gene details page in the UCSC Genome Browser.

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035759 – Ensembl, May 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, et al. (May 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nature Genetics. 38 (5): 521–524. doi:10.1038/ng1771. PMID 16582908. S2CID 32269156.

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

[7] Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

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Function

Clinical significance

References

Further reading

External links