BBS12
entrez
166379
canonical
uniprot
Q6ZW61
canonical
ensembl
ENSG00000181004
resolver
ensp
ENSP00000319062
resolver
ensp
ENSP00000438273
resolver
enst
ENST00000314218
resolver
enst
ENST00000542236
resolver
genesymbol
BBS12
resolver
genesymbol_syn
C4orf24
resolver
hgnc
HGNC:26648
resolver
uniprot
D3DNX5
resolver
uniprot
Q7Z342
resolver
uniprot
Q7Z482
resolver
uniprot
Q8NAB8
resolver
uniprot_entry
BBS12_HUMAN
resolver
uniprot_sec
D3DNX5
resolver
uniprot_sec
Q7Z342
resolver
uniprot_sec
Q7Z482
resolver
uniprot_sec
Q8NAB8
resolver
amino_acid_sequence
MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]: 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:17160889, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play 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
79085
uniprot
proteins
protein_family
BBS12 subfamily
uniprot
proteins
protein_family
TCP-1 chaperonin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17160889
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19190184
uniprot
proteins
pubmed
20080638
uniprot
proteins
pubmed
20120035
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
26900326
uniprot
proteins
sequence_length
710
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