Gene name: BBS9

Uniprot entry:

Q3SYG4

Protein names:

Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein)

Protein sequence:

1_MSLFK 6_ ARDWW 11_ STILG 16_ DKEEF 21_ DQGCL 26_ CLANV 31_ DNSGN 36_ GQDKI 41_ IVGSF 46_ MGYLR 51_ IFSPH 56_ PAKTG 61_ DGAQA 66_ EDLLL 71_ EVDLR 76_ DPVLQ 81_ VEVGK 86_ FVSGT 91_ EMLHL 96_ AVLHS 101_ RKLCV 106_ YSVSG 111_ TLGNV 116_ EHGNQ 121_ CQMKL 126_ MYEHN 131_ LQRTA 136_ CNMTY 141_ GSFGG 146_ VKGRD 151_ LICIQ 156_ SMDGM 161_ LMVFE 166_ QESYA 171_ FGRFL 176_ PGFLL 181_ PGPLA 186_ YSSRT 191_ DSFLT 196_ VSSCQ 201_ QVESY 206_ KYQVL 211_ AFATD 216_ ADKRQ 221_ ETEQQ 226_ KLGSG 231_ KRLVV 236_ DWTLN 241_ IGEQA 246_ LDICI 251_ VSFNQ 256_ SASSV 261_ FVLGE 266_ RNFFC 271_ LKDNG 276_ QIRFM 281_ KKLDW 286_ SPSCF 291_ LPYCS 296_ VSEGT 301_ INTLI 306_ GNHNN 311_ MLHIY 316_ QDVTL 321_ KWATQ 326_ LPHIP 331_ VAVRV 336_ GCLHD 341_ LKGVI 346_ VTLSD 351_ DGHLQ 356_ CSYLG 361_ TDPSL 366_ FQAPN 371_ VQSRE 376_ LNYDE 381_ LDVEM 386_ KELQK 391_ IIKDV 396_ NKSQG 401_ VWPMT 406_ EREDD 411_ LNVSV 416_ VVSPN 421_ FDSVS 426_ QATDV 431_ EVGTD 436_ LVPSV 441_ TVKVT 446_ LQNRV 451_ ILQKA 456_ KLSVY 461_ VQPPL 466_ ELTCD 471_ QFTFE 476_ FMTPD 481_ LTRTV 486_ SFSVY 491_ LKRSY 496_ TPSEL 501_ EGNAV 506_ VSYSR 511_ PTDRN 516_ PDGIP 521_ RVIQC 526_ KFRLP 531_ LKLIC 536_ LPGQP 541_ SKTAS 546_ HKITI 551_ DTNKS 556_ PVSLL 561_ SLFPG 566_ FASQS 571_ DDDQV 576_ NVMGF 581_ HFLGG 586_ ARITV 591_ LASKT 596_ SQRYR 601_ IQSEQ 606_ FEDLW 611_ LITNE 616_ LILRL 621_ QEYFE 626_ KQGVK 631_ DFACS 636_ FSGSI 641_ PLQEY 646_ FELID 651_ HHFEL 656_ RINGE 661_ KLEEL 666_ LSERA 671_ VQFRA 676_ IQRRL 681_ LARFK 686_ DKTPA 691_ PLQHL 696_ DTLLD 701_ GTYKQ 706_ VIALA 711_ DAVEE 716_ NQGNL 721_ FQSFT 726_ RLKSA 731_ THLVI 736_ LLIAL 741_ WQKLS 746_ ADQVA 751_ ILEAA 756_ FLPLQ 761_ EDTQE 766_ LGWEE 771_ TVDAA 776_ ISHLL 781_ KTCLS 786_ KSSKE 791_ QALNL 796_ NSQLN 801_ IPKDT 806_ SQLKK 811_ HITLL 816_ CDRLS 821_ KGGRL 826_ CLSTD 831_ AAAPQ 836_ TMVMP 841_ GGCTT 846_ IPESD 851_ LEERS 856_ VEQDS 861_ TELFT 866_ NHRHL 871_ TAETP 876_ RPEVS 881_PLQGV

Protein annotations

Protein functions:

1: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization