Q8K2G4 (BBS7_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bardet-Biedl syndrome 7 protein homolog

Alternative name(s):
BBS2-like protein 1

Gene names

Name:	Bbs7
Synonyms:	Bbs2l1

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	715 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. Interacts with BBS2 (via C-terminus) By similarity. CCT4, CCT5 AND CCT8 By similarity. Interacts with CCDC28B By similarity.
Subcellular location	Cell projection › cilium membrane By similarity. Cytoplasm By similarity. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm By similarity.

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	brain development Inferred from genetic interaction PubMed 22228099. Source: MGI eye development Inferred from genetic interaction PubMed 22228099. Source: MGI fat cell differentiation Inferred from expression pattern PubMed 17379567. Source: BHF-UCL heart development Inferred from genetic interaction PubMed 22228099. Source: MGI limb development Inferred from genetic interaction PubMed 22228099. Source: MGI palate development Inferred from genetic interaction PubMed 22228099. Source: MGI protein localization Inferred from mutant phenotype PubMed 22228099. Source: MGI smoothened signaling pathway Inferred from genetic interaction PubMed 22228099. Source: MGI
Cellular_component	BBSome Inferred from direct assay PubMed 20080638. Source: MGI centrosome Inferred from electronic annotation. Source: Compara cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8K2G4-1)

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: Q8K2G4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     56-57: PV → VM

Note: May be due to a competing donor splice site. No experimental confirmation available.

Isoform 3 (identifier: Q8K2G4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     116-161: ISGSDLFLSA...CLPVEKLSRV → VLFSFMFTYV...FRTWNQYTVD
     162-715: Missing.

Note: Due to intron retention. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 715	715	Bardet-Biedl syndrome 7 protein homolog		PRO_0000064847
Natural variations
	Alternative sequence	56 – 57	2	PV → VM in isoform 2.		VSP_008851
	Alternative sequence	116 – 161	46	ISGSD…KLSRV → VLFSFMFTYVSIIHLIKLVY TSRFFWKRNLATGISLFRTW NQYTVD in isoform 3.		VSP_008852
	Alternative sequence	162 – 715	554	Missing in isoform 3.		VSP_008853

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: F7D8C284B04DA15B	FASTA	715	80,320
	10 20 30 40 50 60 MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK KGEAVPVFKT 70 80 90 100 110 120 LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 130 140 150 160 170 180 LFLSASYIYN HYCDCKDQNY YLSGDKINDV ICLPVEKLSR VTPVLACQDR VLRVLQGSDV 190 200 210 220 230 240 MYEIEVPGPP TVLALHNGDG GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG 250 260 270 280 290 300 ILCVDSFDIM GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 310 320 330 340 350 360 GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE HLQFKVLQER 370 380 390 400 410 420 ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV RTAIDNVLIQ SDVPIDLLDV 430 440 450 460 470 480 DKNSAVVSFS SCDTESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 490 500 510 520 530 540 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 550 560 570 580 590 600 ATFYFQNTFL DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 610 620 630 640 650 660 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL EEADHLQEEY 670 680 690 700 710 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL DSYDQNTLIS FFDAA
	Isoform 2 [UniParc]. Checksum: F751315E44CAA589	FASTA	715	80,354
	10 20 30 40 50 60 MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK KGEAVVMFKT 70 80 90 100 110 120 LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 130 140 150 160 170 180 LFLSASYIYN HYCDCKDQNY YLSGDKINDV ICLPVEKLSR VTPVLACQDR VLRVLQGSDV 190 200 210 220 230 240 MYEIEVPGPP TVLALHNGDG GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG 250 260 270 280 290 300 ILCVDSFDIM GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 310 320 330 340 350 360 GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE HLQFKVLQER 370 380 390 400 410 420 ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV RTAIDNVLIQ SDVPIDLLDV 430 440 450 460 470 480 DKNSAVVSFS SCDTESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 490 500 510 520 530 540 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 550 560 570 580 590 600 ATFYFQNTFL DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 610 620 630 640 650 660 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL EEADHLQEEY 670 680 690 700 710 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL DSYDQNTLIS FFDAA
	Isoform 3 [UniParc]. Checksum: BD4BB27542FF0053	FASTA	161	18,201
	10 20 30 40 50 60 MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK KGEAVPVFKT 70 80 90 100 110 120 LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYVLFSF 130 140 150 160 MFTYVSIIHL IKLVYTSRFF WKRNLATGIS LFRTWNQYTV D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2." Badano J.L., Ansley S.J., Leitch C.C., Lewis R.A., Lupski J.R., Katsanis N. Am. J. Hum. Genet. 72:650-658(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]	"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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-584 (ISOFORM 1). Strain: C57BL/6J. Tissue: Embryonic lung and Liver.
[3]	"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] (ISOFORM 1). Tissue: Mammary tumor.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF521645 mRNA. Translation: AAO16027.1. AK018389 mRNA. Translation: BAB31190.1. AK050291 mRNA. Translation: BAC34169.1. BC031505 mRNA. Translation: AAH31505.1.
IPI	IPI00229547. IPI00387570. IPI00387571.
RefSeq	NP_082086.2. NM_027810.3.
UniGene	Mm.286187.
3D structure databases
ProteinModelPortal	Q8K2G4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8K2G4. 4 interactions.
PTM databases
PhosphoSite	Q8K2G4.
Proteomic databases
PaxDb	Q8K2G4.
PRIDE	Q8K2G4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000040148; ENSMUSP00000047273; ENSMUSG00000037325. ENSMUST00000108156; ENSMUSP00000103791; ENSMUSG00000037325.
GeneID	71492.
KEGG	mmu:71492.
UCSC	uc008ozp.2. mouse. uc008ozq.2. mouse. uc008ozr.1. mouse.
Organism-specific databases
CTD	55212.
MGI	MGI:1918742. Bbs7.
Phylogenomic databases
eggNOG	NOG72192.
GeneTree	ENSGT00390000012346.
HOGENOM	HOG000022374.
HOVERGEN	HBG045408.
InParanoid	Q8K2G4.
KO	K16749.
OMA	KPIHKWE.
OrthoDB	EOG4XKV6C.
Gene expression databases
ArrayExpress	Q8K2G4.
Bgee	Q8K2G4.
CleanEx	MM_BBS7.
Genevestigator	Q8K2G4.
GermOnline	ENSMUSG00000037325. Mus musculus.
Family and domain databases
Gene3D	2.130.10.10. 2 hits.
InterPro	IPR016575. Bardet-Biedl_syndrome_7_prot. IPR015943. WD40/YVTN_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view]
PIRSF	PIRSF011091. BBS7. 1 hit.
SUPFAM	SSF50978. WD40_like. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	BBS7. mouse.
NextBio	333889.
SOURCE	Search...

Entry information

Entry name

BBS7_MOUSE

Accession

Primary (citable) accession number: Q8K2G4
Secondary accession number(s): Q8C7G3, Q8CH00, Q9CXC2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 7, 2003
Last sequence update:	October 1, 2002
Last modified:	April 3, 2013
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program