Q811G0 (PTHB1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	885 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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 By similarity.
Subunit structure	Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin By similarity.
Subcellular location	Cell projection › cilium membrane By similarity. Cytoplasm By similarity. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm By similarity.
Sequence caution	The sequence AAH30419.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fat cell differentiation Inferred from expression pattern PubMed 17379567. Source: BHF-UCL
Cellular_component	BBSome Inferred from electronic annotation. Source: InterPro cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 885	885	Protein PTHB1		PRO_0000235270
Natural variations
	Alternative sequence	1 – 576	576	Missing in isoform 3 and isoform 4.		VSP_018429
	Alternative sequence	512 – 516	5	Missing in isoform 2.		VSP_018430
	Alternative sequence	706 – 800	95	IALAD…SQLNI → SAMSGQMCVSTPVSSFPRVR RQGTDICWTVGSGCVCDAFG VAYKYSFSSLFSQETTTCSQ YLYDYNEDLGLLVSSWVSTW DHYFVLKIILAVFTL in isoform 3.		VSP_018431
	Alternative sequence	801 – 885	85	Missing in isoform 3.		VSP_018432
Experimental info
	Sequence conflict	325	1	Q → R in BAE26036. Ref.1
	Sequence conflict	885	1	E → V in BAE26036. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 16, 2006. Version 2. Checksum: 46C4580518630E36	FASTA	885	99,057
	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
	Isoform 2 [UniParc]. Checksum: 8D4F740902EA2610	FASTA	880	98,460
	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 TGIPRVVQCK FRLPLKLICL PGQPSKTASH 550 560 570 580 590 600 KLTIDTNKSP VSLLGLFPDF ANPSDDDQVN VMGFRLLGGA RVTLLASRTS QRYRIQSEQF 610 620 630 640 650 660 EDLWLITNEL ILRLQEHFEK QGTKDFSCSF SGCVPLQEYF ELIDHHFELR INGKKLEELL 670 680 690 700 710 720 SERAVQFRAI QRRLLTRFRD KTPAPLQHLD TLLDGTYKQV IALADAIEEN QDRLLQSFSG 730 740 750 760 770 780 LKSATHLLIL LIRLWQRLSA DQTAILEAAF LPLQEDTQEL GWEETVDAAI AYLLKTCLSK 790 800 810 820 830 840 SSKEQALNLS SQLNIPKDTS RLKKHITLLC DRLAKGGRLC VSTDAAAPQA MVVPGGCTPI 850 860 870 880 PESDLEERSL DDSTELFTNH KHLMTEPPMP EVSARQGVLE
	Isoform 3 [UniParc]. Checksum: D171E96513507E63	FASTA	224	25,847
	10 20 30 40 50 60 MGFRLLGGAR VTLLASRTSQ RYRIQSEQFE DLWLITNELI LRLQEHFEKQ GTKDFSCSFS 70 80 90 100 110 120 GCVPLQEYFE LIDHHFELRI NGKKLEELLS ERAVQFRAIQ RRLLTRFRDK TPAPLQHLDT 130 140 150 160 170 180 LLDGTYKQVS AMSGQMCVST PVSSFPRVRR QGTDICWTVG SGCVCDAFGV AYKYSFSSLF 190 200 210 220 SQETTTCSQY LYDYNEDLGL LVSSWVSTWD HYFVLKIILA VFTL
	Isoform 4 [UniParc]. Checksum: 9931917102C2D038	FASTA	309	34,996
	10 20 30 40 50 60 MGFRLLGGAR VTLLASRTSQ RYRIQSEQFE DLWLITNELI LRLQEHFEKQ GTKDFSCSFS 70 80 90 100 110 120 GCVPLQEYFE LIDHHFELRI NGKKLEELLS ERAVQFRAIQ RRLLTRFRDK TPAPLQHLDT 130 140 150 160 170 180 LLDGTYKQVI ALADAIEENQ DRLLQSFSGL KSATHLLILL IRLWQRLSAD QTAILEAAFL 190 200 210 220 230 240 PLQEDTQELG WEETVDAAIA YLLKTCLSKS SKEQALNLSS QLNIPKDTSR LKKHITLLCD 250 260 270 280 290 300 RLAKGGRLCV STDAAAPQAM VVPGGCTPIP ESDLEERSLD DSTELFTNHK HLMTEPPMPE VSARQGVLE

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00329971. IPI00474727. IPI00750370. IPI00752946.
RefSeq	NP_848502.1. NM_178415.1. NP_851833.2. NM_181316.4.
UniGene	Mm.176725.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q811G0. 3 interactions.
STRING	10090.ENSMUSP00000110951.
PTM databases
PhosphoSite	Q811G0.
Proteomic databases
PaxDb	Q811G0.
PRIDE	Q811G0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000039798; ENSMUSP00000043042; ENSMUSG00000035919. ENSMUST00000147405; ENSMUSP00000120927; ENSMUSG00000035919. ENSMUST00000147712; ENSMUSP00000122058; ENSMUSG00000035919. ENSMUST00000150395; ENSMUSP00000116629; ENSMUSG00000035919.
GeneID	319845.
KEGG	mmu:319845.
UCSC	uc009oor.1. mouse. uc009oou.1. mouse. uc009oov.1. mouse. uc012gpo.1. mouse.
Organism-specific databases
CTD	27241.
MGI	MGI:2442833. Bbs9.
Phylogenomic databases
eggNOG	NOG329692.
GeneTree	ENSGT00390000000803.
HOGENOM	HOG000067865.
HOVERGEN	HBG082225.
InParanoid	Q811G0.
OMA	PLQEDTQ.
OrthoDB	EOG4Z36D1.
Gene expression databases
ArrayExpress	Q811G0.
Bgee	Q811G0.
CleanEx	MM_BBS9.
Genevestigator	Q811G0.
GermOnline	ENSMUSG00000035919. Mus musculus.
Family and domain databases
InterPro	IPR026511. PTHB1. [Graphical view]
PANTHER	PTHR20991. PTHR20991. 1 hit.
ProtoNet	Search...
Other
NextBio	395515.
SOURCE	Search...

Entry information

Entry name

PTHB1_MOUSE

Accession

Primary (citable) accession number: Q811G0
Secondary accession number(s): P97498 , Q3UMR2, Q7TQH9, Q8BKD7, Q8K0T5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	May 16, 2006
Last modified:	April 3, 2013
This is version 69 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program