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Aliases for BBS5 Gene

Aliases for BBS5 Gene

  • Bardet-Biedl Syndrome 5 2 3

External Ids for BBS5 Gene

Previous GeneCards Identifiers for BBS5 Gene

  • GC02U990004
  • GC02P170539
  • GC02P170161
  • GC02P170044
  • GC02P170335
  • GC02P162226

Summaries for BBS5 Gene

Entrez Gene Summary for BBS5 Gene

  • This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for BBS5 Gene

BBS5 (Bardet-Biedl Syndrome 5) is a Protein Coding gene. Diseases associated with BBS5 include bardet-biedl syndrome 5 and bbs5-related bardet-biedl syndrome. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ENSG00000251569.

UniProtKB/Swiss-Prot for BBS5 Gene

  • 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 BBSome complex ciliary localization but not for the proper complex assembly.

Gene Wiki entry for BBS5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS5 Gene

Genomics for BBS5 Gene

Regulatory Elements for BBS5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BBS5 Gene

Start:
169,479,178 bp from pter
End:
169,506,655 bp from pter
Size:
27,478 bases
Orientation:
Plus strand

Genomic View for BBS5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS5 Gene

Proteins for BBS5 Gene

  • Protein details for BBS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3I7-BBS5_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 5 protein
    Protein Accession:
    Q8N3I7
    Secondary Accessions:
    • D3DPC3
    • Q6PKN0

    Protein attributes for BBS5 Gene

    Size:
    341 amino acids
    Molecular mass:
    38755 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Binds to phosphoinositides. Interacts with CCDC28B. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO. Interacts with PKD1 (PubMed:24939912).
    Miscellaneous:
    • BBS5 may interact genetically with BBS1

    Alternative splice isoforms for BBS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS5 Gene

Proteomics data for BBS5 Gene at MOPED

Post-translational modifications for BBS5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBS5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BBS5 Gene

Domains for BBS5 Gene

Protein Domains for BBS5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBS5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3I7

UniProtKB/Swiss-Prot:

BBS5_HUMAN :
  • Q8N3I7
Family:
  • Belongs to the BBS5 family.
genes like me logo Genes that share domains with BBS5: view

No data available for Gene Families for BBS5 Gene

Function for BBS5 Gene

Molecular function for BBS5 Gene

UniProtKB/Swiss-Prot 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 BBSome complex ciliary localization but not for the proper complex assembly.

Gene Ontology (GO) - Molecular Function for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 16327777
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 17574030
genes like me logo Genes that share ontologies with BBS5: view

Phenotypes for BBS5 Gene

GenomeRNAi human phenotypes for BBS5:
genes like me logo Genes that share phenotypes with BBS5: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for BBS5 Gene

Localization for BBS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS5 Gene

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to basal bodies. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS5 Gene COMPARTMENTS Subcellular localization image for BBS5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0034464 BBSome IDA 17574030
genes like me logo Genes that share ontologies with BBS5: view

Pathways for BBS5 Gene

SuperPathways for BBS5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0006996 organelle organization TAS --
GO:0007601 visual perception IEA --
GO:0015031 protein transport IEA --
GO:0032402 melanosome transport ISS --
genes like me logo Genes that share ontologies with BBS5: view

No data available for Pathways by source for BBS5 Gene

Transcripts for BBS5 Gene

Unigene Clusters for BBS5 Gene

Bardet-Biedl syndrome 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BBS5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBS5 Gene

No ASD Table

Relevant External Links for BBS5 Gene

GeneLoc Exon Structure for
BBS5
ECgene alternative splicing isoforms for
BBS5

Expression for BBS5 Gene

mRNA expression in normal human tissues for BBS5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BBS5 Gene

This gene is overexpressed in Retina (39.5) and Testis (21.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BBS5 Gene

SOURCE GeneReport for Unigene cluster for BBS5 Gene Hs.233398

genes like me logo Genes that share expressions with BBS5: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BBS5 Gene

Orthologs for BBS5 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BBS5 35
  • 93.55 (n)
  • 94.72 (a)
BBS5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS5 35
  • 94.13 (n)
  • 97.65 (a)
mouse
(Mus musculus)
Mammalia Bbs5 35
  • 88.66 (n)
  • 96.48 (a)
Bbs5 16
Bbs5 36
  • 96 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia BBS5 35
  • 99.61 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Bbs5 35
  • 88.47 (n)
  • 96.19 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves BBS5 35
  • 82.75 (n)
  • 90 (a)
BBS5 36
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs5 35
  • 80.49 (n)
  • 91.76 (a)
Str.466 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24758 35
zebrafish
(Danio rerio)
Actinopterygii bbs5 35
  • 77.48 (n)
  • 90.86 (a)
zgc56578 35
bbs5 36
  • 90 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001301 35
  • 52.67 (n)
  • 51.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1126 35
  • 52.47 (n)
  • 49.11 (a)
CG1126 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bbs-5 35
  • 53.15 (n)
  • 47.45 (a)
bbs-5 36
  • 43 (a)
OneToMany
Species with no ortholog for BBS5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BBS5 Gene

ENSEMBL:
Gene Tree for BBS5 (if available)
TreeFam:
Gene Tree for BBS5 (if available)

Paralogs for BBS5 Gene

Paralogs for BBS5 Gene

Selected SIMAP similar genes for BBS5 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for BBS5 Gene

genes like me logo Genes that share paralogs with BBS5: view

Variants for BBS5 Gene

Sequence variations from dbSNP and Humsavar for BBS5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1879466 -- 169,479,514(-) CCGTG(C/G)AGGCC utr-variant-5-prime
rs2353179 -- 169,499,144(+) TCTTG(A/G)AAGGT intron-variant
rs2353187 -- 169,482,493(+) GAAGA(A/C)AGGAT intron-variant
rs2353188 -- 169,486,573(+) AATAG(C/T)TTGCT intron-variant
rs2353189 -- 169,489,122(+) gagta(A/G)ctaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BBS5 Gene

Variant ID Type Subtype PubMed ID
nsv875385 CNV Loss 21882294
dgv4357n71 CNV Loss 21882294
dgv4358n71 CNV Loss 21882294
nsv875389 CNV Loss 21882294
dgv4359n71 CNV Loss 21882294
nsv521651 CNV Gain 19592680
dgv4360n71 CNV Loss 21882294
nsv518894 CNV Gain 19592680
dgv4361n71 CNV Loss 21882294
nsv875398 CNV Gain+Loss 21882294
nsv875401 CNV Loss 21882294
nsv818095 CNV Loss 17921354
nsv875406 CNV Loss 21882294
esv1600177 CNV Deletion 17803354

Relevant External Links for BBS5 Gene

HapMap Linkage Disequilibrium report
BBS5
Human Gene Mutation Database (HGMD)
BBS5
Locus Specific Mutation Databases (LSDB)
BBS5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS5 Gene

Disorders for BBS5 Gene

(1) OMIM Diseases for BBS5 Gene (603650)

UniProtKB/Swiss-Prot

BBS5_HUMAN
  • Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]: 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. {ECO:0000269 PubMed:15137946, ECO:0000269 PubMed:18203199, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for BBS5 Gene

Relevant External Links for BBS5

GeneTests
BBS5
GeneReviews
BBS5
Genetic Association Database (GAD)
BBS5
Human Genome Epidemiology (HuGE) Navigator
BBS5
genes like me logo Genes that share disorders with BBS5: view

No data available for Novoseek inferred disease relationships and Genatlas for BBS5 Gene

Publications for BBS5 Gene

  1. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. (PMID: 9888993) Woods M.O. … Davidson W.S. (Genomics 1999) 2 3
  2. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. (PMID: 10053027) Young T.L. … Davidson W.S. (Am. J. Hum. Genet. 1999) 2 3
  3. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. (PMID: 15137946) Li J.B. … Dutcher S.K. (Cell 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for BBS5 Gene

Sources for BBS5 Gene

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