InnateDB Protein
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IDBP-603946.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BBS12
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Protein Name
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Bardet-Biedl syndrome 12
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000438273
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InnateDB Gene
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IDBG-36999 (BBS12)
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Protein Structure
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Function |
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269PubMed:19190184, ECO:0000269PubMed:20080638}.
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Subcellular Localization |
Cell projection, cilium {ECO:0000269PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes.
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Disease Associations |
Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. 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:0000269PubMed:17160889, ECO:0000269PubMed:20120035, ECO:0000269PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
17
[view]
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Protein-Protein |
17
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002423
Chaperonin Cpn60/TCP-1
IPR027409
GroEL-like apical domain
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PFAM |
PF00118
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6ZW61
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PhosphoSite |
PhosphoSite-Q6ZW61
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TrEMBL |
C9J8H7
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UniProt Splice Variant |
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Entrez Gene |
166379
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UniGene |
Hs.400698
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RefSeq |
NP_001171478
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HUGO |
HGNC:26648
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OMIM |
610683
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CCDS |
CCDS3728
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HPRD |
08759
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IMGT |
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EMBL |
AC053545
AK092949
AK123553
BC055426
BX538148
CH471056
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GenPept |
AAH55426
BAC04006
BAC85644
CAD98035
EAX05223
EAX05224
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