PTHB1_MOUSE
ID PTHB1_MOUSE Reviewed; 885 AA.
AC Q811G0; P97498; Q3UMR2; Q7TQH9; Q8BKD7; Q8K0T5;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Protein PTHB1;
DE AltName: Full=Bardet-Biedl syndrome 9 protein homolog;
DE AltName: Full=Parathyroid hormone-responsive B1 gene protein homolog;
GN Name=Bbs9; Synonyms=Pthb1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC STRAIN=C57BL/6J; TISSUE=Eye, and Lung;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 105-885 (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Eye, and Mammary tumor;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 667-885.
RC TISSUE=Fetus;
RA Keen T.J.;
RT "Positional candidates for the RP9 retinitis pigmentosa gene.";
RL Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP INTERACTION WITH LZTL1, AND IDENTIFICATION IN THE BBSOME COMPLEX.
RX PubMed=22072986; DOI=10.1371/journal.pgen.1002358;
RA Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V.,
RA Sheffield V.C.;
RT "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and
RT Smoothened.";
RL PLoS Genet. 7:E1002358-E1002358(2011).
CC -!- FUNCTION: The BBSome complex is thought to function as a coat complex
CC required for sorting of specific membrane proteins to the primary
CC cilia. The BBSome complex is required for ciliogenesis but is
CC dispensable for centriolar satellite function. This ciliogenic function
CC is mediated in part by the Rab8 GDP/GTP exchange factor, which
CC localizes to the basal body and contacts the BBSome. Rab8(GTP) enters
CC the primary cilium and promotes extension of the ciliary membrane.
CC Firstly the BBSome associates with the ciliary membrane and binds to
CC RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the
CC Rab8-GTP localizes to the cilium and promotes docking and fusion of
CC carrier vesicles to the base of the ciliary membrane. Required for
CC proper BBSome complex assembly and its ciliary localization (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5,
CC BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction
CC mediates the association of LZTL1 with the BBsome complex and regulates
CC BBSome ciliary trafficking. {ECO:0000269|PubMed:22072986}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}.
CC Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome, centriolar satellite {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q811G0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q811G0-2; Sequence=VSP_018430;
CC Name=3;
CC IsoId=Q811G0-3; Sequence=VSP_018429, VSP_018431, VSP_018432;
CC Name=4;
CC IsoId=Q811G0-4; Sequence=VSP_018429;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30419.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK053503; BAC35408.1; -; mRNA.
DR EMBL; AK144730; BAE26036.1; -; mRNA.
DR EMBL; BC030419; AAH30419.1; ALT_INIT; mRNA.
DR EMBL; BC046426; AAH46426.1; -; mRNA.
DR EMBL; BC054441; AAH54441.1; -; mRNA.
DR EMBL; U85993; AAB61920.1; -; mRNA.
DR CCDS; CCDS22928.1; -. [Q811G0-2]
DR CCDS; CCDS90520.1; -. [Q811G0-1]
DR RefSeq; NP_848502.1; NM_178415.1. [Q811G0-2]
DR RefSeq; NP_851833.2; NM_181316.4. [Q811G0-2]
DR RefSeq; XP_006510478.1; XM_006510415.3.
DR RefSeq; XP_006510479.1; XM_006510416.3. [Q811G0-1]
DR RefSeq; XP_006510480.1; XM_006510417.3. [Q811G0-1]
DR RefSeq; XP_006510481.1; XM_006510418.3. [Q811G0-1]
DR RefSeq; XP_006510482.1; XM_006510419.3.
DR AlphaFoldDB; Q811G0; -.
DR SMR; Q811G0; -.
DR BioGRID; 235567; 1.
DR ComplexPortal; CPX-1909; BBSome complex.
DR IntAct; Q811G0; 5.
DR STRING; 10090.ENSMUSP00000116629; -.
DR iPTMnet; Q811G0; -.
DR PhosphoSitePlus; Q811G0; -.
DR EPD; Q811G0; -.
DR MaxQB; Q811G0; -.
DR PaxDb; Q811G0; -.
DR PRIDE; Q811G0; -.
DR ProteomicsDB; 291621; -. [Q811G0-1]
DR ProteomicsDB; 291622; -. [Q811G0-2]
DR ProteomicsDB; 291623; -. [Q811G0-3]
DR ProteomicsDB; 291624; -. [Q811G0-4]
DR Antibodypedia; 12805; 167 antibodies from 22 providers.
DR DNASU; 319845; -.
DR Ensembl; ENSMUST00000039798; ENSMUSP00000043042; ENSMUSG00000035919. [Q811G0-2]
DR Ensembl; ENSMUST00000147405; ENSMUSP00000120927; ENSMUSG00000035919. [Q811G0-1]
DR Ensembl; ENSMUST00000147712; ENSMUSP00000122058; ENSMUSG00000035919. [Q811G0-2]
DR Ensembl; ENSMUST00000150395; ENSMUSP00000116629; ENSMUSG00000035919. [Q811G0-2]
DR GeneID; 319845; -.
DR KEGG; mmu:319845; -.
DR UCSC; uc009oor.1; mouse. [Q811G0-2]
DR UCSC; uc009oou.1; mouse. [Q811G0-1]
DR UCSC; uc009oov.1; mouse. [Q811G0-3]
DR UCSC; uc012gpo.1; mouse. [Q811G0-4]
DR CTD; 27241; -.
DR MGI; MGI:2442833; Bbs9.
DR VEuPathDB; HostDB:ENSMUSG00000035919; -.
DR eggNOG; KOG3679; Eukaryota.
DR GeneTree; ENSGT00390000000803; -.
DR HOGENOM; CLU_015674_1_0_1; -.
DR InParanoid; Q811G0; -.
DR OMA; VPVEDWT; -.
DR OrthoDB; 332152at2759; -.
DR PhylomeDB; Q811G0; -.
DR TreeFam; TF314513; -.
DR Reactome; R-MMU-5620922; BBSome-mediated cargo-targeting to cilium.
DR BioGRID-ORCS; 319845; 2 hits in 71 CRISPR screens.
DR ChiTaRS; Bbs9; mouse.
DR PRO; PR:Q811G0; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q811G0; protein.
DR Bgee; ENSMUSG00000035919; Expressed in spermatocyte and 245 other tissues.
DR ExpressionAtlas; Q811G0; baseline and differential.
DR Genevisible; Q811G0; MM.
DR GO; GO:0034464; C:BBSome; IDA:UniProtKB.
DR GO; GO:0034451; C:centriolar satellite; ISO:MGI.
DR GO; GO:0036064; C:ciliary basal body; ISO:MGI.
DR GO; GO:0060170; C:ciliary membrane; ISO:MGI.
DR GO; GO:0035869; C:ciliary transition zone; ISO:MGI.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IDA:MGI.
DR GO; GO:0000242; C:pericentriolar material; ISO:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:FlyBase.
DR GO; GO:0045444; P:fat cell differentiation; IEP:BHF-UCL.
DR GO; GO:0061512; P:protein localization to cilium; ISO:MGI.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR028074; PHTB1_C_dom.
DR InterPro; IPR028073; PHTB1_N_dom.
DR InterPro; IPR026511; PTHB1.
DR PANTHER; PTHR20991; PTHR20991; 1.
DR Pfam; PF14728; PHTB1_C; 1.
DR Pfam; PF14727; PHTB1_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Membrane;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..885
FT /note="Protein PTHB1"
FT /id="PRO_0000235270"
FT REGION 1..406
FT /note="Seven-bladed beta-propeller"
FT /evidence="ECO:0000250|UniProtKB:Q3SYG4"
FT REGION 684..764
FT /note="Interaction with LZTL1"
FT /evidence="ECO:0000250"
FT SITE 141
FT /note="Critical for protein stability"
FT /evidence="ECO:0000250|UniProtKB:Q3SYG4"
FT VAR_SEQ 1..576
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_018429"
FT VAR_SEQ 512..516
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_018430"
FT VAR_SEQ 706..800
FT /note="IALADAIEENQDRLLQSFSGLKSATHLLILLIRLWQRLSADQTAILEAAFLP
FT LQEDTQELGWEETVDAAIAYLLKTCLSKSSKEQALNLSSQLNI -> SAMSGQMCVSTP
FT VSSFPRVRRQGTDICWTVGSGCVCDAFGVAYKYSFSSLFSQETTTCSQYLYDYNEDLGL
FT LVSSWVSTWDHYFVLKIILAVFTL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_018431"
FT VAR_SEQ 801..885
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_018432"
FT CONFLICT 325
FT /note="Q -> R (in Ref. 1; BAE26036)"
FT /evidence="ECO:0000305"
FT CONFLICT 885
FT /note="E -> V (in Ref. 1; BAE26036)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 885 AA; 99057 MW; 46C4580518630E36 CRC64;
MSLFKARDWW STVLGEKEEF DQGCLCLADV DNSGNGHDKI IVGSFMGYLR IFSPHSVKAG
GGPQAEDLLL EVHLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ
YQIKLMYEHH LQRTACNMTY GPFGGVKGRD LICIQSLDGM LMVFEQESYA FGRFLPGFLL
PGPLAYSPRT DSFITVSSCR QVESYKYQVL AFATDADKKQ EMEQQKLGSG KRLVVDWTLN
IGEQALDICI FPLNQSASSV FVLGERNFFC LKDNGQIRFM KKLGYNPSCF LPYCSVSEGT
INTLIGNHNH MLHIYQDVTL KWATQLPHVP VAVRVGCFHD LKGVIVTLSD DGHLQCSYLG
TDPSLFQAPK VESRELNYDE LDVELKELQK IIKDVKLQGV WPLTEQEDDL KVSASVSSTL
DSVSQATNVE PGADSVPSIT VKITLQNRVV LQKVKLSIYV QPPLQLTCDQ FTFDFTVPDM
TSSVAFSVYL KRNYTPSELE GNAVVSYSRP TDRNPDGIPR VVQCKFRLPL KLICLPGQPS
KTASHKLTID TNKSPVSLLG LFPDFANPSD DDQVNVMGFR LLGGARVTLL ASRTSQRYRI
QSEQFEDLWL ITNELILRLQ EHFEKQGTKD FSCSFSGCVP LQEYFELIDH HFELRINGKK
LEELLSERAV QFRAIQRRLL TRFRDKTPAP LQHLDTLLDG TYKQVIALAD AIEENQDRLL
QSFSGLKSAT HLLILLIRLW QRLSADQTAI LEAAFLPLQE DTQELGWEET VDAAIAYLLK
TCLSKSSKEQ ALNLSSQLNI PKDTSRLKKH ITLLCDRLAK GGRLCVSTDA AAPQAMVVPG
GCTPIPESDL EERSLDDSTE LFTNHKHLMT EPPMPEVSAR QGVLE
