BBS10

BBS10
Identifiers
Aliases	BBS10, C12orf58, Bardet-Biedl syndrome 10
External IDs	OMIM: 610148; MGI: 1919019; GeneCards: BBS10
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
Databases	NCBI: entry; OMA: entry
	79738
	71769
	ENSG00000179941
	ENSMUSG00000035759
	Q8TAM1
	Q9DBI2
	NM_024685
	NM_027914
	NP_078961
	NP_082190
	Wikidata
View/Edit Human	View/Edit Mouse

BBSome complex assembly protein BBS10, also known as Bardet–Biedl syndrome 10 protein, is encoded in the human by the BBS10 gene.

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.

Clinical significance

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000179941 – Ensembl, May 2017
1 2 3 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.
↑ "UniProt". UniProt. Retrieved 17 June 2026.
1 2 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.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000179941 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[UniProt-5] "UniProt". UniProt. Retrieved 17 June 2026.

[pmid16582908-6] 1 2 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-7] "Entrez Gene: Bardet-Biedl syndrome 10".

[8] 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.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 DNAAF1 INPP5E KIF3A SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

BBS10

Function

Clinical significance

References

Further reading

External links