BBS10
entrez
79738
canonical
uniprot
Q8TAM1
canonical
ensembl
ENSG00000179941
resolver
ensp
ENSP00000497413
resolver
enst
ENST00000650064
resolver
genesymbol
BBS10
resolver
genesymbol_syn
C12orf58
resolver
hgnc
HGNC:26291
resolver
uniprot
Q96CW2
resolver
uniprot
Q9H5D2
resolver
uniprot_entry
BBS10_HUMAN
resolver
uniprot_sec
Q96CW2
resolver
uniprot_sec
Q9H5D2
resolver
amino_acid_sequence
MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHLEHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHWKNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCGRVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLVLQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKHLHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQCEIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKMLRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDALEKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPLLKNNSTAYSTRGNRIEISYENLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSEDEL
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16582908, ECO:0000269|PubMed:16823392, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540, ECO:0000269|PubMed:23219996, ECO:0000269|PubMed:28808579}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.
uniprot
proteins
mass_dalton
80838
uniprot
proteins
mutagenesis
MUTAGEN 81; /note="D->N: Greatly decreases all interactions with BBS7, BBS9 and BBS12 indicating that this residue may be required for overall protein conformation rather than required for ATP binding and substrate folding."; /evidence="ECO:0000269|PubMed:20080638
uniprot
proteins
protein_family
TCP-1 chaperonin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16582908
uniprot
proteins
pubmed
16823392
uniprot
proteins
pubmed
19190184
uniprot
proteins
pubmed
20080638
uniprot
proteins
pubmed
20120035
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
23219996
uniprot
proteins
pubmed
28808579
uniprot
proteins
sequence_length
723
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes. {ECO:0000269|PubMed:19190184}.
uniprot
proteins