Q8IWZ6 (BBS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bardet-Biedl syndrome 7 protein

Alternative name(s):
BBS2-like protein 1

Gene names

Name:	BBS7
Synonyms:	BBS2L1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	715 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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. Ref.6
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. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B. Ref.5 Ref.6 Ref.7
Subcellular location	Cell projection › cilium membrane. Cytoplasm. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm. Ref.6
Tissue specificity	Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
Involvement in disease	Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.10 Ref.11

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Mental retardation Obesity
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL digestive tract morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL fat cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL heart looping Inferred from sequence or structural similarity. Source: BHF-UCL melanosome transport Inferred from sequence or structural similarity. Source: BHF-UCL pigment granule aggregation in cell center Inferred from sequence or structural similarity. Source: BHF-UCL response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	BBSome Inferred from direct assay Ref.6. Source: BHF-UCL centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ALDOB	P05062	4	EBI-1806001,EBI-1045507
BBS1	Q8NFJ9	6	EBI-1806001,EBI-1805484
BBS10	Q8TAM1	4	EBI-1806001,EBI-6128013
BBS12	Q6ZW61	6	EBI-1806001,EBI-6128352
BBS2	Q9BXC9	11	EBI-1806001,EBI-748297
CCT2	P78371	3	EBI-1806001,EBI-357407
JUN	P05412	3	EBI-1806001,EBI-852823

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IWZ6-1)

Also known as: Long; lBBS2L1;

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: Q8IWZ6-2)

Also known as: Short; sBBS2L1;

The sequence of this isoform differs from the canonical sequence as follows:
     673-715: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 715	715	Bardet-Biedl syndrome 7 protein		PRO_0000064846
Natural variations
	Alternative sequence	673 – 715	43	Missing in isoform 2.		VSP_008850
	Natural variant	63	1	G → R in BBS7. Ref.11		VAR_066286
	Natural variant	66	1	I → F in BBS7. Ref.10		VAR_038893
	Natural variant	211	1	T → I in BBS7. Ref.1 Ref.9		VAR_017212
	Natural variant	293	1	Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. Ref.12		VAR_066459
	Natural variant	323	1	H → R in BBS7. Ref.1		VAR_017213
	Natural variant	671	1	Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. Ref.8		VAR_065555
Experimental info
	Sequence conflict	469	1	Q → L in AAO16025. Ref.1
	Sequence conflict	469	1	Q → L in AAO16026. Ref.1
	Sequence conflict	469	1	Q → L in BAA91767. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) (lBBS2L1) [UniParc]. Last modified March 7, 2006. Version 2. Checksum: A7856647969713FF	FASTA	715	80,353
	10 20 30 40 50 60 MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT 70 80 90 100 110 120 LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 130 140 150 160 170 180 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV 190 200 210 220 230 240 MYAVEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG 250 260 270 280 290 300 ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 310 320 330 340 350 360 SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER 370 380 390 400 410 420 ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 430 440 450 460 470 480 DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 490 500 510 520 530 540 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 550 560 570 580 590 600 VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 610 620 630 640 650 660 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY 670 680 690 700 710 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIS FFDAA
	Isoform 2 (Short) (sBBS2L1) [UniParc]. Checksum: 80A007A34EFE5D9B	FASTA	672	75,446
	10 20 30 40 50 60 MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT 70 80 90 100 110 120 LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 130 140 150 160 170 180 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV 190 200 210 220 230 240 MYAVEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG 250 260 270 280 290 300 ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 310 320 330 340 350 360 SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER 370 380 390 400 410 420 ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 430 440 450 460 470 480 DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 490 500 510 520 530 540 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 550 560 570 580 590 600 VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 610 620 630 640 650 660 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY 670 KKQPAHLERL YG

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] (ISOFORMS 1 AND 2), VARIANTS BBS7 ILE-211 AND ARG-323.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 2). Tissue: Brain.
[5]	"Dissection of epistasis in oligogenic Bardet-Biedl syndrome." Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N. Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CCDC28B.
[6]	"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis." Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K. Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
[7]	"BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly." Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C. Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BBS2.
[8]	"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V., Muzny D.M., Young A.C., Wheeler D.A., Cruz P., Morgan M., Lewis L.R., Cherukuri P., Maskeri B. , Hansen N.F., Mullikin J.C., Blakesley R.W., Bouffard G.G., Gyapay G., Rieger S., Tonshoff B., Kern I., Soliman N.A., Neuhaus T.J., Swoboda K.J., Kayserili H., Gallagher T.E., Lewis R.A., Bergmann C., Otto E.A., Saunier S., Scambler P.J., Beales P.L., Gleeson J.G., Maher E.R., Attie-Bitach T., Dollfus H., Johnson C.A., Green E.D., Gibbs R.A., Hildebrandt F., Pierce E.A., Katsanis N. Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT CYS-671.
[9]	"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome." Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N. Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS7 ILE-211.
[10]	"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Hichri H., Stoetzel C., Laurier V., Caron S., Sigaudy S., Sarda P., Hamel C., Martin-Coignard D., Gilles M., Leheup B., Holder M., Kaplan J., Bitoun P., Lacombe D., Verloes A., Bonneau D., Perrin-Schmitt F., Brandt C. , Besancon A.-F., Mandel J.-L., Cossee M., Dollfus H. Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS7 PHE-66.
[11]	"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. , Mitchell G.A., Boycott K., Heon E. Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS7 ARG-63.
[12]	"KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes." Putoux A., Thomas S., Coene K.L., Davis E.E., Alanay Y., Ogur G., Uz E., Buzas D., Gomes C., Patrier S., Bennett C.L., Elkhartoufi N., Frison M.H., Rigonnot L., Joye N., Pruvost S., Utine G.E., Boduroglu K. , Nitschke P., Fertitta L., Thauvin-Robinet C., Munnich A., Cormier-Daire V., Hennekam R., Colin E., Akarsu N.A., Bole-Feysot C., Cagnard N., Schmitt A., Goudin N., Lyonnet S., Encha-Razavi F., Siffroi J.P., Winey M., Katsanis N., Gonzales M., Vekemans M., Beales P.L., Attie-Bitach T. Nat. Genet. 43:601-606(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PRO-293.
+	Additional computationally mapped references.

Web resources

Mutations of the BBS7 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF521643 mRNA. Translation: AAO16025.1. AF521644 mRNA. Translation: AAO16026.1. AK001577 mRNA. Translation: BAA91767.1. AC079341 Genomic DNA. Translation: AAY40970.1. BC032691 mRNA. Translation: AAH32691.1.
IPI	IPI00293235. IPI00383870.
RefSeq	NP_060660.2. NM_018190.3. NP_789794.1. NM_176824.2.
UniGene	Hs.591694.
3D structure databases
ProteinModelPortal	Q8IWZ6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IWZ6. 26 interactions.
STRING	9606.ENSP00000264499.
PTM databases
PhosphoSite	Q8IWZ6.
Polymorphism databases
DMDM	90110978.
Proteomic databases
PaxDb	Q8IWZ6.
PRIDE	Q8IWZ6.
Protocols and materials databases
DNASU	55212.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264499; ENSP00000264499; ENSG00000138686. ENST00000506636; ENSP00000423626; ENSG00000138686.
GeneID	55212.
KEGG	hsa:55212.
UCSC	uc003ied.3. human.
Organism-specific databases
CTD	55212.
GeneCards	GC04M122745.
HGNC	HGNC:18758. BBS7.
HPA	HPA044592.
MIM	209900. phenotype. 607590. gene.
neXtProt	NX_Q8IWZ6.
Orphanet	110. Bardet-Biedl syndrome.
PharmGKB	PA134923753.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG72192.
HOGENOM	HOG000022374.
HOVERGEN	HBG045408.
InParanoid	Q8IWZ6.
KO	K16749.
OMA	KPIHKWE.
OrthoDB	EOG4XKV6C.
PhylomeDB	Q8IWZ6.
Gene expression databases
ArrayExpress	Q8IWZ6.
Bgee	Q8IWZ6.
CleanEx	HS_BBS7.
Genevestigator	Q8IWZ6.
GermOnline	ENSG00000138686. Homo sapiens.
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
GenomeRNAi	55212.
NextBio	59158.
SOURCE	Search...

Entry information

Entry name

BBS7_HUMAN

Accession

Primary (citable) accession number: Q8IWZ6
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 7, 2003
Last sequence update:	March 7, 2006
Last modified:	May 1, 2013
This is version 94 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.