HuLPr30446

Uniprot ID

PTHB1_HUMAN

Uniprot Acc

Q3SYG4;P78514;Q7KYS6;Q7KYS7;Q8N570;Q99844;Q99854;Q9Y699;Q9Y6A0;

Protein name

Protein PTHB1

Comment

FUNCTION: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.||SUBUNIT:Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin.||INTERACTION:Q8NFJ9:BBS1; NbExp=1; IntAct=EBI-2826852, EBI-1805484; Q9BXC9:BBS2; NbExp=1; IntAct=EBI-2826852, EBI-748297; Q8N3I7:BBS5; NbExp=1; IntAct=EBI-2826852, EBI-2892592; Q8TAM2:TTC8; NbExp=1; IntAct=EBI-2826852, EBI-2892638;||SUBCELLULAR LOCATION:C

Subcellular localization

Cytoplasm, cytoskeleton, centrosome.Cell projection, cilium membrane.Cytoplasm.

Gene name

Bardet-Biedl syndrome 9

Protein sequence

MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKI IVGSFMGYLRIFSPHPAKTGDGAQAEDLLLEVDLRDPVL QVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHG NQCQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSM DGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTV SSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVV DWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDN GQIRFMKKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLH IYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDG HLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKI IKDVNKSQGVWPMTEREDDLNVSVVVSPNFDSVSQATDV EVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTC DQFTFEFMTPDLTRTVSFSVYLKRSYTPSELEGNAVVSY SRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHK ITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGA RITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYFE KQGVKDFACSFSGSIPLQEYFELIDHHFELRINGEKLEE LLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTY KQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQ KLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLLK TCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLS KGGRLCLSTDAAAPQTMVMPGGCTTIPESDLEERSVEQD STELFTNHRHLTAETPRPEVSPLQGVSE

Database cross reference

RefSeq Protein accession:NP_001028776
RefSeq Protein gi:75905801

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

GO:0034464;C:BBSome;IDA:BHF-UCL. GO:0060170;C:cilium membrane;IEA:UniProtKB-SubCell. GO:0005815;C:microtubule organizing center;IEA:UniProtKB-SubCell. GO:0005634;C:nucleus;IDA:HPA.

GO-F

GO:0005515;F:protein binding;IPI:IntAct.

GO-P

GO:0045444;P:fat cell differentiation;ISS:BHF-UCL. GO:0050896;P:response to stimulus;IEA:UniProtKB-KW. GO:0007601;P:visual perception;IEA:UniProtKB-KW.