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Q811G0 (PTHB1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein PTHB1
Alternative name(s):
Bardet-Biedl syndrome 9 protein homolog
Parathyroid hormone-responsive B1 gene protein homolog
Gene names
Name:Bbs9
Synonyms:Pthb1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length885 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 By similarity.

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking. Ref.4

Subcellular location

Cell projectioncilium membrane By similarity. Cytoplasm By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity.

Sequence caution

The sequence AAH30419.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q811G0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q811G0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     512-516: Missing.
Isoform 3 (identifier: Q811G0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-576: Missing.
     706-800: IALADAIEEN...ALNLSSQLNI → SAMSGQMCVS...LKIILAVFTL
     801-885: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q811G0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-576: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 885885Protein PTHB1
PRO_0000235270

Regions

Region684 – 76481Interaction with LZTL1 By similarity

Natural variations

Alternative sequence1 – 576576Missing in isoform 3 and isoform 4.
VSP_018429
Alternative sequence512 – 5165Missing in isoform 2.
VSP_018430
Alternative sequence706 – 80095IALAD…SQLNI → SAMSGQMCVSTPVSSFPRVR RQGTDICWTVGSGCVCDAFG VAYKYSFSSLFSQETTTCSQ YLYDYNEDLGLLVSSWVSTW DHYFVLKIILAVFTL in isoform 3.
VSP_018431
Alternative sequence801 – 88585Missing in isoform 3.
VSP_018432

Experimental info

Sequence conflict3251Q → R in BAE26036. Ref.1
Sequence conflict8851E → V in BAE26036. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 16, 2006. Version 2.
Checksum: 46C4580518630E36

FASTA88599,057
        10         20         30         40         50         60 
MSLFKARDWW STVLGEKEEF DQGCLCLADV DNSGNGHDKI IVGSFMGYLR IFSPHSVKAG 

        70         80         90        100        110        120 
GGPQAEDLLL EVHLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ 

       130        140        150        160        170        180 
YQIKLMYEHH LQRTACNMTY GPFGGVKGRD LICIQSLDGM LMVFEQESYA FGRFLPGFLL 

       190        200        210        220        230        240 
PGPLAYSPRT DSFITVSSCR QVESYKYQVL AFATDADKKQ EMEQQKLGSG KRLVVDWTLN 

       250        260        270        280        290        300 
IGEQALDICI FPLNQSASSV FVLGERNFFC LKDNGQIRFM KKLGYNPSCF LPYCSVSEGT 

       310        320        330        340        350        360 
INTLIGNHNH MLHIYQDVTL KWATQLPHVP VAVRVGCFHD LKGVIVTLSD DGHLQCSYLG 

       370        380        390        400        410        420 
TDPSLFQAPK VESRELNYDE LDVELKELQK IIKDVKLQGV WPLTEQEDDL KVSASVSSTL 

       430        440        450        460        470        480 
DSVSQATNVE PGADSVPSIT VKITLQNRVV LQKVKLSIYV QPPLQLTCDQ FTFDFTVPDM 

       490        500        510        520        530        540 
TSSVAFSVYL KRNYTPSELE GNAVVSYSRP TDRNPDGIPR VVQCKFRLPL KLICLPGQPS 

       550        560        570        580        590        600 
KTASHKLTID TNKSPVSLLG LFPDFANPSD DDQVNVMGFR LLGGARVTLL ASRTSQRYRI 

       610        620        630        640        650        660 
QSEQFEDLWL ITNELILRLQ EHFEKQGTKD FSCSFSGCVP LQEYFELIDH HFELRINGKK 

       670        680        690        700        710        720 
LEELLSERAV QFRAIQRRLL TRFRDKTPAP LQHLDTLLDG TYKQVIALAD AIEENQDRLL 

       730        740        750        760        770        780 
QSFSGLKSAT HLLILLIRLW QRLSADQTAI LEAAFLPLQE DTQELGWEET VDAAIAYLLK 

       790        800        810        820        830        840 
TCLSKSSKEQ ALNLSSQLNI PKDTSRLKKH ITLLCDRLAK GGRLCVSTDA AAPQAMVVPG 

       850        860        870        880 
GCTPIPESDL EERSLDDSTE LFTNHKHLMT EPPMPEVSAR QGVLE 

« Hide

Isoform 2 [UniParc].

Checksum: 8D4F740902EA2610
Show »

FASTA88098,460
Isoform 3 [UniParc].

Checksum: D171E96513507E63
Show »

FASTA22425,847
Isoform 4 [UniParc].

Checksum: 9931917102C2D038
Show »

FASTA30934,996

References

« Hide 'large scale' references
[1]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Strain: C57BL/6J.
Tissue: Eye and Lung.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 105-885 (ISOFORM 1).
Strain: FVB/N.
Tissue: Eye and Mammary tumor.
[3]"Positional candidates for the RP9 retinitis pigmentosa gene."
Keen T.J.
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 667-885.
Tissue: Fetus.
[4]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH LZTL1, IDENTIFICATION IN THE BBSOME COMPLEX.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK053503 mRNA. Translation: BAC35408.1.
AK144730 mRNA. Translation: BAE26036.1.
BC030419 mRNA. Translation: AAH30419.1. Different initiation.
BC046426 mRNA. Translation: AAH46426.1.
BC054441 mRNA. Translation: AAH54441.1.
U85993 mRNA. Translation: AAB61920.1.
RefSeqNP_848502.1. NM_178415.1.
NP_851833.2. NM_181316.4.
XP_006510478.1. XM_006510415.1.
XP_006510479.1. XM_006510416.1.
XP_006510480.1. XM_006510417.1.
XP_006510481.1. XM_006510418.1.
XP_006510482.1. XM_006510419.1.
UniGeneMm.176725.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ811G0. 3 interactions.
STRING10090.ENSMUSP00000110951.

PTM databases

PhosphoSiteQ811G0.

Proteomic databases

PaxDbQ811G0.
PRIDEQ811G0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000039798; ENSMUSP00000043042; ENSMUSG00000035919. [Q811G0-2]
ENSMUST00000147405; ENSMUSP00000120927; ENSMUSG00000035919. [Q811G0-1]
ENSMUST00000147712; ENSMUSP00000122058; ENSMUSG00000035919. [Q811G0-2]
ENSMUST00000150395; ENSMUSP00000116629; ENSMUSG00000035919. [Q811G0-2]
GeneID319845.
KEGGmmu:319845.
UCSCuc009oor.1. mouse. [Q811G0-2]
uc009oou.1. mouse. [Q811G0-1]
uc009oov.1. mouse. [Q811G0-3]
uc012gpo.1. mouse. [Q811G0-4]

Organism-specific databases

CTD27241.
MGIMGI:2442833. Bbs9.

Phylogenomic databases

eggNOGNOG329692.
GeneTreeENSGT00390000000803.
HOGENOMHOG000067865.
HOVERGENHBG082225.
InParanoidQ811G0.
OMAVNVMGFR.
OrthoDBEOG7W153P.
PhylomeDBQ811G0.
TreeFamTF314513.

Gene expression databases

ArrayExpressQ811G0.
BgeeQ811G0.
CleanExMM_BBS9.
GenevestigatorQ811G0.

Family and domain databases

InterProIPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view]
PANTHERPTHR20991:SF0. PTHR20991:SF0. 1 hit.
PfamPF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio395515.
PROQ811G0.
SOURCESearch...

Entry information

Entry namePTHB1_MOUSE
AccessionPrimary (citable) accession number: Q811G0
Secondary accession number(s): P97498 expand/collapse secondary AC list , Q3UMR2, Q7TQH9, Q8BKD7, Q8K0T5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: April 16, 2014
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot