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Q8IWZ6

- BBS7_HUMAN

UniProt

Q8IWZ6 - BBS7_HUMAN

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Protein

Bardet-Biedl syndrome 7 protein

Gene
BBS7, BBS2L1
Organism
Homo sapiens (Human)
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. 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.2 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

  1. brain development Source: Ensembl
  2. cilium morphogenesis Source: BHF-UCL
  3. determination of left/right symmetry Source: BHF-UCL
  4. digestive tract morphogenesis Source: BHF-UCL
  5. eye development Source: Ensembl
  6. fat cell differentiation Source: BHF-UCL
  7. heart looping Source: BHF-UCL
  8. limb development Source: Ensembl
  9. melanosome transport Source: BHF-UCL
  10. nonmotile primary cilium assembly Source: InterPro
  11. palate development Source: Ensembl
  12. pigment granule aggregation in cell center Source: BHF-UCL
  13. positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: MGI
  14. protein transport Source: UniProtKB-KW
  15. regulation of transcription from RNA polymerase II promoter Source: MGI
  16. smoothened signaling pathway Source: Ensembl
  17. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 7 protein
Alternative name(s):
BBS2-like protein 1
Gene namesi
Name:BBS7
Synonyms:BBS2L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:18758. BBS7.

Subcellular locationi

Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite 2 Publications

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. ciliary membrane Source: UniProtKB-SubCell
  4. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631G → R in BBS7. 1 Publication
VAR_066286
Natural varianti66 – 661I → F in BBS7. 1 Publication
VAR_038893
Natural varianti211 – 2111T → I in BBS7. 2 Publications
VAR_017212
Natural varianti323 – 3231H → R in BBS7. 1 Publication
VAR_017213

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA134923753.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 715715Bardet-Biedl syndrome 7 proteinPRO_0000064846Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ8IWZ6.
PRIDEiQ8IWZ6.

PTM databases

PhosphoSiteiQ8IWZ6.

Expressioni

Tissue specificityi

Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.

Gene expression databases

ArrayExpressiQ8IWZ6.
BgeeiQ8IWZ6.
CleanExiHS_BBS7.
GenevestigatoriQ8IWZ6.

Organism-specific databases

HPAiHPA044592.

Interactioni

Subunit structurei

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.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ALDOBP050624EBI-1806001,EBI-1045507
BBS1Q8NFJ96EBI-1806001,EBI-1805484
BBS10Q8TAM14EBI-1806001,EBI-6128013
BBS12Q6ZW616EBI-1806001,EBI-6128352
BBS2Q9BXC911EBI-1806001,EBI-748297
CCT2P783713EBI-1806001,EBI-357407
JUNP054123EBI-1806001,EBI-852823

Protein-protein interaction databases

BioGridi120508. 6 interactions.
DIPiDIP-46566N.
IntActiQ8IWZ6. 26 interactions.
STRINGi9606.ENSP00000264499.

Structurei

3D structure databases

ProteinModelPortaliQ8IWZ6.
SMRiQ8IWZ6. Positions 33-69.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG72192.
HOGENOMiHOG000022374.
HOVERGENiHBG045408.
InParanoidiQ8IWZ6.
KOiK16749.
OMAiKPIHKWE.
OrthoDBiEOG7CNZG6.
PhylomeDBiQ8IWZ6.
TreeFamiTF315013.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFiPIRSF011091. BBS7. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IWZ6-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK    50
KGEAAAVFKT LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF 100
LSFETNLTES IKAMHISGSD LFLSASYIYN HYCDCKDQHY YLSGDKINDV 150
ICLPVERLSR ITPVLACQDR VLRVLQGSDV MYAVEVPGPP TVLALHNGNG 200
GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG ILCIDSFDIV 250
GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 300
SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE 350
HLQYKVLQER ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV 400
QTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDSESNDNF LLATYRCQAD 450
TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI 500
DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC VTFYFQNTFL 550
DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL 650
EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL 700
DSYDQNALIS FFDAA 715
Length:715
Mass (Da):80,353
Last modified:March 7, 2006 - v2
Checksum:iA7856647969713FF
GO
Isoform 2 (identifier: Q8IWZ6-2) [UniParc]FASTAAdd to Basket

Also known as: Short, sBBS2L1

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

Show »
Length:672
Mass (Da):75,446
Checksum:i80A007A34EFE5D9B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631G → R in BBS7. 1 Publication
VAR_066286
Natural varianti66 – 661I → F in BBS7. 1 Publication
VAR_038893
Natural varianti211 – 2111T → I in BBS7. 2 Publications
VAR_017212
Natural varianti293 – 2931Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. 1 Publication
VAR_066459
Natural varianti323 – 3231H → R in BBS7. 1 Publication
VAR_017213
Natural varianti671 – 6711Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. 1 Publication
VAR_065555

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei673 – 71543Missing in isoform 2. VSP_008850Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti469 – 4691Q → L in AAO16025. 1 Publication
Sequence conflicti469 – 4691Q → L in AAO16026. 1 Publication
Sequence conflicti469 – 4691Q → L in BAA91767. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3724.1. [Q8IWZ6-1]
CCDS54799.1. [Q8IWZ6-2]
RefSeqiNP_060660.2. NM_018190.3. [Q8IWZ6-2]
NP_789794.1. NM_176824.2. [Q8IWZ6-1]
UniGeneiHs.591694.

Genome annotation databases

EnsembliENST00000264499; ENSP00000264499; ENSG00000138686. [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686. [Q8IWZ6-2]
GeneIDi55212.
KEGGihsa:55212.
UCSCiuc003ied.3. human. [Q8IWZ6-1]

Polymorphism databases

DMDMi90110978.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the BBS7 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3724.1. [Q8IWZ6-1 ]
CCDS54799.1. [Q8IWZ6-2 ]
RefSeqi NP_060660.2. NM_018190.3. [Q8IWZ6-2 ]
NP_789794.1. NM_176824.2. [Q8IWZ6-1 ]
UniGenei Hs.591694.

3D structure databases

ProteinModelPortali Q8IWZ6.
SMRi Q8IWZ6. Positions 33-69.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120508. 6 interactions.
DIPi DIP-46566N.
IntActi Q8IWZ6. 26 interactions.
STRINGi 9606.ENSP00000264499.

PTM databases

PhosphoSitei Q8IWZ6.

Polymorphism databases

DMDMi 90110978.

Proteomic databases

PaxDbi Q8IWZ6.
PRIDEi Q8IWZ6.

Protocols and materials databases

DNASUi 55212.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264499 ; ENSP00000264499 ; ENSG00000138686 . [Q8IWZ6-1 ]
ENST00000506636 ; ENSP00000423626 ; ENSG00000138686 . [Q8IWZ6-2 ]
GeneIDi 55212.
KEGGi hsa:55212.
UCSCi uc003ied.3. human. [Q8IWZ6-1 ]

Organism-specific databases

CTDi 55212.
GeneCardsi GC04M122745.
GeneReviewsi BBS7.
HGNCi HGNC:18758. BBS7.
HPAi HPA044592.
MIMi 209900. phenotype.
607590. gene.
neXtProti NX_Q8IWZ6.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA134923753.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG72192.
HOGENOMi HOG000022374.
HOVERGENi HBG045408.
InParanoidi Q8IWZ6.
KOi K16749.
OMAi KPIHKWE.
OrthoDBi EOG7CNZG6.
PhylomeDBi Q8IWZ6.
TreeFami TF315013.

Miscellaneous databases

GeneWikii BBS7.
GenomeRNAii 55212.
NextBioi 59158.
PROi Q8IWZ6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IWZ6.
Bgeei Q8IWZ6.
CleanExi HS_BBS7.
Genevestigatori Q8IWZ6.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
InterProi IPR016575. Bardet-Biedl_syndrome_7_prot.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PIRSFi PIRSF011091. BBS7. 1 hit.
SUPFAMi SSF50978. SSF50978. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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. Cited for: VARIANT BBS7 PHE-66.
  13. Cited for: VARIANT BBS7 ARG-63.
  14. Cited for: VARIANT PRO-293.
  15. Cited for: VARIANT CYS-671, INVOLVEMENT IN CILIOPATHIES.

Entry informationi

Entry nameiBBS7_HUMAN
AccessioniPrimary (citable) accession number: Q8IWZ6
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 7, 2006
Last modified: July 9, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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