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Q8IWZ6 (BBS7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bardet-Biedl syndrome 7 protein
Alternative name(s):
BBS2-like protein 1
Gene names
Name:BBS7
Synonyms:BBS2L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length715 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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Ref.6 Ref.9

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B and ALDOB. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9

Subcellular location

Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite Ref.6 Ref.9.

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.11 Ref.12 Ref.13

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Sensory transduction
Transport
Vision
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseBardet-Biedl syndrome
Ciliopathy
Disease mutation
Mental retardation
Obesity
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbrain development

Inferred from electronic annotation. Source: Ensembl

cilium morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

determination of left/right symmetry

Inferred from sequence or structural similarity. Source: BHF-UCL

digestive tract morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

eye development

Inferred from electronic annotation. Source: Ensembl

fat cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

heart looping

Inferred from sequence or structural similarity. Source: BHF-UCL

limb development

Inferred from electronic annotation. Source: Ensembl

melanosome transport

Inferred from sequence or structural similarity. Source: BHF-UCL

nonmotile primary cilium assembly

Inferred from electronic annotation. Source: InterPro

palate development

Inferred from electronic annotation. Source: Ensembl

pigment granule aggregation in cell center

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

Inferred from physical interaction PubMed 22302990. Source: MGI

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription from RNA polymerase II promoter

Inferred from physical interaction PubMed 22302990. Source: MGI

smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentBBSome

Inferred from direct assay Ref.6. Source: BHF-UCL

centrosome

Inferred from direct assay PubMed 21399614. Source: UniProtKB

ciliary membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II repressing transcription factor binding

Inferred from physical interaction PubMed 22302990. Source: MGI

Complete GO annotation...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 715715Bardet-Biedl syndrome 7 protein
PRO_0000064846

Amino acid modifications

Modified residue11N-acetylmethionine Ref.10

Natural variations

Alternative sequence673 – 71543Missing in isoform 2.
VSP_008850
Natural variant631G → R in BBS7. Ref.13
VAR_066286
Natural variant661I → F in BBS7. Ref.12
VAR_038893
Natural variant2111T → I in BBS7. Ref.1 Ref.11
VAR_017212
Natural variant2931Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. Ref.14
VAR_066459
Natural variant3231H → R in BBS7. Ref.1
VAR_017213
Natural variant6711Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. Ref.15
VAR_065555

Experimental info

Sequence conflict4691Q → L in AAO16025. Ref.1
Sequence conflict4691Q → L in AAO16026. Ref.1
Sequence conflict4691Q → L in BAA91767. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) (lBBS2L1) [UniParc].

Last modified March 7, 2006. Version 2.
Checksum: A7856647969713FF

FASTA71580,353
        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 

« Hide

Isoform 2 (Short) (sBBS2L1) [UniParc].

Checksum: 80A007A34EFE5D9B
Show »

FASTA67275,446

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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]"Novel interaction partners of Bardet-Biedl syndrome proteins."
Oeffner F., Moch C., Neundorf A., Hofmann J., Koch M., Grzeschik K.H.
Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ALDOB.
[8]"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.
[9]"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: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, INTERACTION WITH SMO, SUBCELLULAR LOCATION.
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"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.
[12]"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. expand/collapse author list , 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.
[13]"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. expand/collapse author list , Mitchell G.A., Boycott K., Heon E.
Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BBS7 ARG-63.
[14]"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. expand/collapse author list , 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.
[15]"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. expand/collapse author list , 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: VARIANT CYS-671, INVOLVEMENT IN CILIOPATHIES.
+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.
RefSeqNP_060660.2. NM_018190.3.
NP_789794.1. NM_176824.2.
UniGeneHs.591694.

3D structure databases

ProteinModelPortalQ8IWZ6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120508. 6 interactions.
DIPDIP-46566N.
IntActQ8IWZ6. 26 interactions.
STRING9606.ENSP00000264499.

PTM databases

PhosphoSiteQ8IWZ6.

Polymorphism databases

DMDM90110978.

Proteomic databases

PaxDbQ8IWZ6.
PRIDEQ8IWZ6.

Protocols and materials databases

DNASU55212.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264499; ENSP00000264499; ENSG00000138686. [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686. [Q8IWZ6-2]
GeneID55212.
KEGGhsa:55212.
UCSCuc003ied.3. human. [Q8IWZ6-1]

Organism-specific databases

CTD55212.
GeneCardsGC04M122745.
HGNCHGNC:18758. BBS7.
HPAHPA044592.
MIM209900. phenotype.
607590. gene.
neXtProtNX_Q8IWZ6.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA134923753.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72192.
HOGENOMHOG000022374.
HOVERGENHBG045408.
InParanoidQ8IWZ6.
KOK16749.
OMAKPIHKWE.
OrthoDBEOG7CNZG6.
PhylomeDBQ8IWZ6.
TreeFamTF315013.

Gene expression databases

ArrayExpressQ8IWZ6.
BgeeQ8IWZ6.
CleanExHS_BBS7.
GenevestigatorQ8IWZ6.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
InterProIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERPTHR16074:SF3. PTHR16074:SF3. 1 hit.
PIRSFPIRSF011091. BBS7. 1 hit.
SUPFAMSSF50978. SSF50978. 2 hits.
ProtoNetSearch...

Other

GeneWikiBBS7.
GenomeRNAi55212.
NextBio59158.
PROQ8IWZ6.
SOURCESearch...

Entry information

Entry nameBBS7_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM