| UniProt ID | BBS12_HUMAN | |
|---|---|---|
| UniProt AC | Q6ZW61 | |
| Protein Name | Bardet-Biedl syndrome 12 protein | |
| Gene Name | BBS12 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 710 | |
| Subcellular Localization | Cell projection, cilium . Located within the basal body of the primary cilium of differentiating preadipocytes. | |
| Protein Description | 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.. | |
| Protein Sequence | MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEECHESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEECLHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPFLQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKNSLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLSHGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGYITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSSEELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAGAVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPVTAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACSGWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFLFL | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 63 | Phosphorylation | LLESLDLTSAVGQLL HHHHCCCHHHHHHHH | 17.82 | 24719451 | |
| 64 | Phosphorylation | LESLDLTSAVGQLLN HHHCCCHHHHHHHHH | 28.40 | 28348404 | |
| 80 | Phosphorylation | AVQAQNNTYRTGIST HHHHCCCCHHHCHHH | 23.17 | 24719451 | |
| 374 | Ubiquitination | YRHLGFNKSANIKTV CHHCCCCCCCCHHHH | 49.00 | - | |
| 384 | Phosphorylation | NIKTVLDSMRLQEDS CHHHHHHHHCCCCCC | 11.14 | 24719451 | |
| 494 | Phosphorylation | RIAILLKTEGINLVT CEEEEEECCCCCEEE | 39.14 | 25907765 | |
| 501 | Phosphorylation | TEGINLVTAVLTNPV CCCCCEEEEHHCCCC | 17.76 | 25907765 | |
| 505 | Phosphorylation | NLVTAVLTNPVTAQM CEEEEHHCCCCCCCE | 30.77 | 25907765 | |
| 509 | Phosphorylation | AVLTNPVTAQMQIKE EHHCCCCCCCEECCC | 16.66 | 25907765 | |
| 655 | Ubiquitination | FNSDISNKLEQIPRV HCHHHHHHHHHCCCE | 46.76 | - |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of BBS12_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of BBS12_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of BBS12_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| MKKS_HUMAN | MKKS | physical | 28514442 | |
| BBS7_HUMAN | BBS7 | physical | 28514442 | |
| PTPC1_HUMAN | PTPDC1 | physical | 27173435 | |
| 2AAA_HUMAN | PPP2R1A | physical | 27173435 |
| Kegg Drug | ||||||
|---|---|---|---|---|---|---|
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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