Property Summary

NCBI Gene PubMed Count 10
PubMed Score 2.04
PubTator Score 1.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Synonym

Accession A8MTZ0 E9PIY9 E9PM41 E9PRI7
Symbols BBS18
BBIP10
bA348N5.3
NCRNA00081

Gene

Gene RIF (1)

PMID Text
24026985 Identification of BBIP1 as the 18th BBS gene (BBS18), BBSome assembly may represent a unifying pathomechanism for Bardet-Biedl syndrome.

AA Sequence

MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMH      1 - 70
QAAQNTIRQQEMAEKDQRQITH                                                     71 - 92
//

Text Mined References (9)

PMID Year Title
24026985 2014 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
20603001 2010 The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
19549489 2009 The BBSome.
19081074 2008 A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.