6VBU


Conserved Protein Domain Family
BBS2_Mid

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pfam14783: BBS2_Mid 
Ciliary BBSome complex subunit 2, middle region
The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.
Statistics
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PSSM-Id: 405473
Aligned: 18 rows
Threshold Bit Score: 120.448
Created: 25-Mar-2022
Updated: 17-Oct-2022
Structure
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Program:
Drawing:
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
6VBU_2       165 SLALCDFDGDGKKELLVGSEDFDIRVFKED-EIVAEMSETEIITSLCPMYGSRFGYALSNGTVGVYDKTARYWRIKSKNQ 243
CAP35240     169 TMCLSDYDGDGETELVIGSPDFEIRVFKND-LMRAELMETDEITSLAHVTNGCFAYSLNNGTIGTYVMKERQWRIKSKSN 247
EEB09936     155 SLALIDVDNDGENELVVGSDDYDIRIFKNE-DLVHEITETQIVTFLVNVGNDLFAYTLANGTVGVYEKLNRLWRVKSKNR 233
XP_001308511 142 AMCIAEIGGV--KSLLAASNDLKIVQFSGG-ESKREIRIHHKCIIMKTIEPEKFVAAFENGSVALYDKMQKIWNYATQNE 218
EGD73023     167 AMAVGPFTT-GDAELVVGSEDFDIRSFNADaELLVEISERDAITQLIRLSGQRFAFSLANGTVGVFQSSTLLWSHKTKHQ 245
EFX81473     123 ALALIDFDGDGHNHLLAGTDDGNLRLFRNG-RMTTEMKETDAVTFLIALTDHCFGYALANGTVGVYHKRNRLWRVKSKNQ 201
XP_011266661 165 SLAVFDFDGDGENELLTGTTEYEIKVQKED-TMLWETKETAAIVALTDLSNRQFAYAVDNGTIGVYEAGQRLWRVKSKHK 243
XP_967756    167 SLILMDFDKDGSNELVVSSEDFKIRVFKGD-QIINEQVETEVVTGLAPLPENRFAYSVSNGTVGVYDQDVRLWRVKSKHF 245
Q16XJ9       167 SLLLMDIDKDGQNELIVGTDDGCIKMYKRD-SLLHEFTEGNEIQNLMAVSPSQFMFSVKNGTIGVFDESVRMWRIKSKTR 245 yellow fever mo...
ETN62226     190 SLLLIDIDKDEQNELIIGTDDGCIRIYKRE-TLLHEFAEGNEIQNLATLRPGQFMYSVKNGTIGVFEENVRLWRIKSKTR 268
6VBU_2       244 AMSIHAFDLNSdgvcELITGWSNGKVDAR 272
CAP35240     248 VSKIFNIEEQG----LMVVVWKQGKVDLR 272
EEB09936     234 PTCLLKYDIDGdgcdELITGWQGGKVDGR 262
XP_001308511 219 IVGMDLIDFSGrktkDVILACSEGDLSFL 247
EGD73023     246 ATALAAYDINFdgvpELAVGWADGRVDVF 274
EFX81473     202 IVALASYDVDNdghpELICGWSHGRFDAR 230
XP_011266661 244 VVSVGTFDINSdgtlELITGWSSGKVDAR 272
XP_967756    246 AISMQSYDLLGqgstQLITGWSNGKIDCR 274
Q16XJ9       246 VTAMAMYDILGcegkQIIVGWKSGKIDVR 274 yellow fever mosquito
ETN62226     269 ATAMATYDILGceskQMIIGWKSGKMDVR 297
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