Gene name: BBS2

Uniprot entry:

Q9BXC9

Protein names:

Bardet-Biedl syndrome 2 protein

Protein sequence:

1_MLLPV 6_ FTLKL 11_ RHKIS 16_ PRMVA 21_ IGRYD 26_ GTHPC 31_ LAAAT 36_ QTGKV 41_ FIHNP 46_ HTRNQ 51_ HVSAS 56_ RVFQS 61_ PLESD 66_ VSLLS 71_ INQAV 76_ SCLTA 81_ GVLNP 86_ ELGYD 91_ ALLVG 96_ TQTNL 101_ LAYDV 106_ YNNSD 111_ LFYRE 116_ VADGA 121_ NAIVL 126_ GTLGD 131_ ISSPL 136_ AIIGG 141_ NCALQ 146_ GFNHE 151_ GSDLF 156_ WTVTG 161_ DNVNS 166_ LALCD 171_ FDGDG 176_ KKELL 181_ VGSED 186_ FDIRV 191_ FKEDE 196_ IVAEM 201_ TETEI 206_ VTSLC 211_ PMYGS 216_ RFGYA 221_ LSNGT 226_ VGVYD 231_ KTSRY 236_ WRIKS 241_ KNHAM 246_ SIHAF 251_ DLNSD 256_ GVNEL 261_ ITGWS 266_ NGKVD 271_ ARSDR 276_ TGEVI 281_ FKDNF 286_ SSAIA 291_ GVVEG 296_ DYRMD 301_ GHIQL 306_ ICCSV 311_ DGEIR 316_ GYLPG 321_ TAEMR 326_ GNLMD 331_ TSAEQ 336_ DLIRE 341_ LSQKK 346_ QNLLL 351_ ELRNY 356_ EENAK 361_ AELAS 366_ PLNEA 371_ DGHRG 376_ IIPAN 381_ TRLHT 386_ TLSVS 391_ LGNET 396_ QTAHT 401_ ELRIS 406_ TSNDT 411_ IIRAV 416_ LIFAE 421_ GIFTG 426_ ESHVV 431_ HPSIH 436_ NLSSS 441_ ICIPI 446_ VPPKD 451_ VPVDL 456_ HLKAF 461_ VGYRS 466_ STQFH 471_ VFEST 476_ RQLPR 481_ FSMYA 486_ LTSLD 491_ PASEP 496_ ISYVN 501_ FTIAE 506_ RAQRV 511_ VVWLG 516_ QNFLL 521_ PEDTH 526_ IQNAP 531_ FQVCF 536_ TSLRN 541_ GGHLH 546_ IKIKL 551_ SGEIT 556_ INTDD 561_ IDLAG 566_ DIIQS 571_ MASFF 576_ AIEDL 581_ QVEAD 586_ FPVYF 591_ EELRK 596_ VLVKV 601_ DEYHS 606_ VHQKL 611_ SADMA 616_ DHSNL 621_ IRSLL 626_ VGAED 631_ ARLMR 636_ DMKTM 641_ KSRYM 646_ ELYDL 651_ NRDLL 656_ NGYKI 661_ RCNNH 666_ TELLG 671_ NLKAV 676_ NQAIQ 681_ RAGRL 686_ RVGKP 691_ KNQVI 696_ TACRD 701_ AIRSN 706_ NINTL 711_ FKIMR 716_VGTAS

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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization