BBS7 | ENSG00000138686 | NCBI 55212

Details for: BBS7

Gene ID: 55212

Symbol: BBS7

Ensembl ID: ENSG00000138686

Description: Bardet-Biedl syndrome 7

Associated with

Bbsome-mediated cargo-targeting to cilium
(R-HSA-5620922)
Cargo trafficking to the periciliary membrane
(R-HSA-5620920)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Axoneme
(GO:0005930)
Bbsome
(GO:0034464)
Brain development
(GO:0007420)
Centriolar satellite
(GO:0034451)
Centrosome
(GO:0005813)
Ciliary basal body
(GO:0036064)
Ciliary membrane
(GO:0060170)
Cilium assembly
(GO:0060271)
Cytosol
(GO:0005829)
Determination of left/right symmetry
(GO:0007368)
Digestive tract morphogenesis
(GO:0048546)
Eye development
(GO:0001654)
Fat cell differentiation
(GO:0045444)
Heart looping
(GO:0001947)
Intracellular transport
(GO:0046907)
Limb development
(GO:0060173)
Melanosome transport
(GO:0032402)
Membrane
(GO:0016020)
Neuron projection
(GO:0043005)
Non-motile cilium assembly
(GO:1905515)
Nucleus
(GO:0005634)
Photoreceptor outer segment
(GO:0001750)
Pigment granule aggregation in cell center
(GO:0051877)
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process
(GO:0032436)
Primary palate development
(GO:1903929)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein transport
(GO:0015031)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Smoothened signaling pathway
(GO:0007224)
Visual perception
(GO:0007601)

Other Information

Proteins

Bardet-Biedl syndrome 7 protein

Genular Protein ID: 3269476850

Symbol: BBS7_HUMAN

Name: Bardet-Biedl syndrome 7 protein

UniProtKB Accession Codes:

Q8IWZ6 Q4W5P8 Q8N581 Q9NVI4

Database IDs:

Citations:

PubMed ID: 12567324

Title: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PubMed ID: 12567324

DOI: 10.1086/368204

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16327777

Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

PubMed ID: 16327777

DOI: 10.1038/nature04370

PubMed ID: 17574030

Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PubMed ID: 17574030

DOI: 10.1016/j.cell.2007.03.053

PubMed ID: 18000879

Title: Novel interaction partners of Bardet-Biedl syndrome proteins.

PubMed ID: 18000879

DOI: 10.1002/cm.20250

PubMed ID: 20080638

Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PubMed ID: 20080638

DOI: 10.1073/pnas.0910268107

PubMed ID: 22072986

Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PubMed ID: 22072986

DOI: 10.1371/journal.pgen.1002358

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 12677556

Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PubMed ID: 12677556

DOI: 10.1086/375178

PubMed ID: 15770229

Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PubMed ID: 15770229

DOI: 10.1038/sj.ejhg.5201372

PubMed ID: 21344540

Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PubMed ID: 21344540

DOI: 10.1002/humu.21480

PubMed ID: 21552264

Title: KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

PubMed ID: 21552264

DOI: 10.1038/ng.826

PubMed ID: 21258341

Title: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PubMed ID: 21258341

DOI: 10.1038/ng.756

Sequence Information:

Length: 715
Mass: 80353
Checksum: A7856647969713FF
Sequence:

MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT 
LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 
LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV 
MYAVEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG 
ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 
SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER 
ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 
DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 
CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 
VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY 
KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIS FFDAA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: BBS7

Associated with

Other Information

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. PubMed ID: 12567324

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Dissection of epistasis in oligogenic Bardet-Biedl syndrome. PubMed ID: 16327777

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. PubMed ID: 17574030

Novel interaction partners of Bardet-Biedl syndrome proteins. PubMed ID: 18000879

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. PubMed ID: 20080638

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PubMed ID: 22072986

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. PubMed ID: 12677556

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. PubMed ID: 15770229

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. PubMed ID: 21344540

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. PubMed ID: 21552264

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. PubMed ID: 21258341