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Q811G0

- PTHB1_MOUSE

UniProt

Q811G0 - PTHB1_MOUSE

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Protein
Protein PTHB1
Gene
Bbs9, Pthb1
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. protein binding Source: MGI
Complete GO annotation...

GO - Biological processi

  1. cilium assembly Source: FlyBase
  2. fat cell differentiation Source: BHF-UCL
  3. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Protein PTHB1
Alternative name(s):
Bardet-Biedl syndrome 9 protein homolog
Parathyroid hormone-responsive B1 gene protein homolog
Gene namesi
Name:Bbs9
Synonyms:Pthb1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 9

Organism-specific databases

MGIiMGI:2442833. Bbs9.

Subcellular locationi

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. ciliary basal body Source: MGI
  3. ciliary membrane Source: UniProtKB-SubCell
  4. cilium Source: UniProtKB
  5. cytoplasm Source: UniProtKB-SubCell
  6. nucleus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 885885Protein PTHB1
PRO_0000235270Add
BLAST

Proteomic databases

MaxQBiQ811G0.
PaxDbiQ811G0.
PRIDEiQ811G0.

PTM databases

PhosphoSiteiQ811G0.

Expressioni

Gene expression databases

ArrayExpressiQ811G0.
BgeeiQ811G0.
CleanExiMM_BBS9.
GenevestigatoriQ811G0.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

IntActiQ811G0. 3 interactions.
STRINGi10090.ENSMUSP00000110951.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni684 – 76481Interaction with LZTL1 By similarity
Add
BLAST

Phylogenomic databases

eggNOGiNOG329692.
GeneTreeiENSGT00390000000803.
HOGENOMiHOG000067865.
HOVERGENiHBG082225.
InParanoidiQ811G0.
OMAiVNVMGFR.
OrthoDBiEOG7W153P.
PhylomeDBiQ811G0.
TreeFamiTF314513.

Family and domain databases

InterProiIPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view]
PANTHERiPTHR20991:SF0. PTHR20991:SF0. 1 hit.
PfamiPF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q811G0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSLFKARDWW STVLGEKEEF DQGCLCLADV DNSGNGHDKI IVGSFMGYLR    50
IFSPHSVKAG GGPQAEDLLL EVHLRDPVLQ VEVGKFVSGT EMLHLAVLHS 100
RKLCVYSVSG TLGNVEHGNQ YQIKLMYEHH LQRTACNMTY GPFGGVKGRD 150
LICIQSLDGM LMVFEQESYA FGRFLPGFLL PGPLAYSPRT DSFITVSSCR 200
QVESYKYQVL AFATDADKKQ EMEQQKLGSG KRLVVDWTLN IGEQALDICI 250
FPLNQSASSV FVLGERNFFC LKDNGQIRFM KKLGYNPSCF LPYCSVSEGT 300
INTLIGNHNH MLHIYQDVTL KWATQLPHVP VAVRVGCFHD LKGVIVTLSD 350
DGHLQCSYLG TDPSLFQAPK VESRELNYDE LDVELKELQK IIKDVKLQGV 400
WPLTEQEDDL KVSASVSSTL DSVSQATNVE PGADSVPSIT VKITLQNRVV 450
LQKVKLSIYV QPPLQLTCDQ FTFDFTVPDM TSSVAFSVYL KRNYTPSELE 500
GNAVVSYSRP TDRNPDGIPR VVQCKFRLPL KLICLPGQPS KTASHKLTID 550
TNKSPVSLLG LFPDFANPSD DDQVNVMGFR LLGGARVTLL ASRTSQRYRI 600
QSEQFEDLWL ITNELILRLQ EHFEKQGTKD FSCSFSGCVP LQEYFELIDH 650
HFELRINGKK LEELLSERAV QFRAIQRRLL TRFRDKTPAP LQHLDTLLDG 700
TYKQVIALAD AIEENQDRLL QSFSGLKSAT HLLILLIRLW QRLSADQTAI 750
LEAAFLPLQE DTQELGWEET VDAAIAYLLK TCLSKSSKEQ ALNLSSQLNI 800
PKDTSRLKKH ITLLCDRLAK GGRLCVSTDA AAPQAMVVPG GCTPIPESDL 850
EERSLDDSTE LFTNHKHLMT EPPMPEVSAR QGVLE 885
Length:885
Mass (Da):99,057
Last modified:May 16, 2006 - v2
Checksum:i46C4580518630E36
GO
Isoform 2 (identifier: Q811G0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     512-516: Missing.

Show »
Length:880
Mass (Da):98,460
Checksum:i8D4F740902EA2610
GO
Isoform 3 (identifier: Q811G0-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:224
Mass (Da):25,847
Checksum:iD171E96513507E63
GO
Isoform 4 (identifier: Q811G0-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:309
Mass (Da):34,996
Checksum:i9931917102C2D038
GO

Sequence cautioni

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 576576Missing in isoform 3 and isoform 4.
VSP_018429Add
BLAST
Alternative sequencei512 – 5165Missing in isoform 2.
VSP_018430
Alternative sequencei706 – 80095IALAD…SQLNI → SAMSGQMCVSTPVSSFPRVR RQGTDICWTVGSGCVCDAFG VAYKYSFSSLFSQETTTCSQ YLYDYNEDLGLLVSSWVSTW DHYFVLKIILAVFTL in isoform 3.
VSP_018431Add
BLAST
Alternative sequencei801 – 88585Missing in isoform 3.
VSP_018432Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti325 – 3251Q → R in BAE26036. 1 Publication
Sequence conflicti885 – 8851E → V in BAE26036. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS22928.1. [Q811G0-2]
RefSeqiNP_848502.1. NM_178415.1. [Q811G0-2]
NP_851833.2. NM_181316.4. [Q811G0-2]
XP_006510478.1. XM_006510415.1. [Q811G0-1]
XP_006510479.1. XM_006510416.1. [Q811G0-1]
XP_006510480.1. XM_006510417.1. [Q811G0-1]
XP_006510481.1. XM_006510418.1. [Q811G0-1]
XP_006510482.1. XM_006510419.1. [Q811G0-2]
UniGeneiMm.176725.

Genome annotation databases

EnsembliENSMUST00000039798; ENSMUSP00000043042; ENSMUSG00000035919. [Q811G0-2]
ENSMUST00000147405; ENSMUSP00000120927; ENSMUSG00000035919. [Q811G0-1]
ENSMUST00000147712; ENSMUSP00000122058; ENSMUSG00000035919. [Q811G0-2]
ENSMUST00000150395; ENSMUSP00000116629; ENSMUSG00000035919. [Q811G0-2]
GeneIDi319845.
KEGGimmu:319845.
UCSCiuc009oor.1. mouse. [Q811G0-2]
uc009oou.1. mouse. [Q811G0-1]
uc009oov.1. mouse. [Q811G0-3]
uc012gpo.1. mouse. [Q811G0-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS22928.1. [Q811G0-2 ]
RefSeqi NP_848502.1. NM_178415.1. [Q811G0-2 ]
NP_851833.2. NM_181316.4. [Q811G0-2 ]
XP_006510478.1. XM_006510415.1. [Q811G0-1 ]
XP_006510479.1. XM_006510416.1. [Q811G0-1 ]
XP_006510480.1. XM_006510417.1. [Q811G0-1 ]
XP_006510481.1. XM_006510418.1. [Q811G0-1 ]
XP_006510482.1. XM_006510419.1. [Q811G0-2 ]
UniGenei Mm.176725.

3D structure databases

ModBasei Search...

Protein-protein interaction databases

IntActi Q811G0. 3 interactions.
STRINGi 10090.ENSMUSP00000110951.

PTM databases

PhosphoSitei Q811G0.

Proteomic databases

MaxQBi Q811G0.
PaxDbi Q811G0.
PRIDEi Q811G0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000039798 ; ENSMUSP00000043042 ; ENSMUSG00000035919 . [Q811G0-2 ]
ENSMUST00000147405 ; ENSMUSP00000120927 ; ENSMUSG00000035919 . [Q811G0-1 ]
ENSMUST00000147712 ; ENSMUSP00000122058 ; ENSMUSG00000035919 . [Q811G0-2 ]
ENSMUST00000150395 ; ENSMUSP00000116629 ; ENSMUSG00000035919 . [Q811G0-2 ]
GeneIDi 319845.
KEGGi mmu:319845.
UCSCi uc009oor.1. mouse. [Q811G0-2 ]
uc009oou.1. mouse. [Q811G0-1 ]
uc009oov.1. mouse. [Q811G0-3 ]
uc012gpo.1. mouse. [Q811G0-4 ]

Organism-specific databases

CTDi 27241.
MGIi MGI:2442833. Bbs9.

Phylogenomic databases

eggNOGi NOG329692.
GeneTreei ENSGT00390000000803.
HOGENOMi HOG000067865.
HOVERGENi HBG082225.
InParanoidi Q811G0.
OMAi VNVMGFR.
OrthoDBi EOG7W153P.
PhylomeDBi Q811G0.
TreeFami TF314513.

Miscellaneous databases

NextBioi 395515.
PROi Q811G0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q811G0.
Bgeei Q811G0.
CleanExi MM_BBS9.
Genevestigatori Q811G0.

Family and domain databases

InterProi IPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view ]
PANTHERi PTHR20991:SF0. PTHR20991:SF0. 1 hit.
Pfami PF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiPTHB1_MOUSE
AccessioniPrimary (citable) accession number: Q811G0
Secondary accession number(s): P97498
, Q3UMR2, Q7TQH9, Q8BKD7, Q8K0T5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: July 9, 2014
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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