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Aliases for BBS4 Gene

Aliases for BBS4 Gene

  • Bardet-Biedl Syndrome 4 2 3

External Ids for BBS4 Gene

Summaries for BBS4 Gene

Entrez Gene Summary for BBS4 Gene

  • This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

GeneCards Summary for BBS4 Gene

BBS4 (Bardet-Biedl Syndrome 4) is a Protein Coding gene. Diseases associated with BBS4 include bardet-biedl syndrome 4 and bbs4-related bardet-biedl syndrome. GO annotations related to this gene include microtubule motor activity and alpha-tubulin binding. An important paralog of this gene is TTC8.

UniProtKB/Swiss-Prot for BBS4 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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

Gene Wiki entry for BBS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS4 Gene

Genomics for BBS4 Gene

Genomic Location for BBS4 Gene

Start:
72,686,179 bp from pter
End:
72,738,476 bp from pter
Size:
52,298 bases
Orientation:
Plus strand

Genomic View for BBS4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS4 Gene

Regulatory Elements for BBS4 Gene

Proteins for BBS4 Gene

  • Protein details for BBS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RK4-BBS4_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 4 protein
    Protein Accession:
    Q96RK4
    Secondary Accessions:
    • B4E178
    • Q53DZ5
    • Q8NHU9
    • Q96H45

    Protein attributes for BBS4 Gene

    Size:
    519 amino acids
    Molecular mass:
    58282 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB and C2CD3. Interacts with PKD1 (PubMed:24939912).

    Alternative splice isoforms for BBS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS4 Gene

Proteomics data for BBS4 Gene at MOPED

Post-translational modifications for BBS4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys20

No data available for DME Specific Peptides for BBS4 Gene

Domains for BBS4 Gene

Gene Families for BBS4 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for BBS4 Gene

UniProtKB/Swiss-Prot:

BBS4_HUMAN
Family:
  • Belongs to the BBS4 family.:
    • Q96RK4
Similarity:
  • Contains 10 TPR repeats.:
    • Q96RK4
genes like me logo Genes that share domains with BBS4: view

Function for BBS4 Gene

Molecular function for BBS4 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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

Gene Ontology (GO) - Molecular Function for BBS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0003777 microtubule motor activity IMP 15107855
GO:0005515 protein binding IPI 15107855
GO:0034452 dynactin binding IDA 15107855
GO:0043014 alpha-tubulin binding IDA 17574030
genes like me logo Genes that share ontologies with BBS4: view
genes like me logo Genes that share phenotypes with BBS4: view

Animal Models for BBS4 Gene

MGI Knock Outs for BBS4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for BBS4 Gene

Localization for BBS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS4 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum. Note=Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS4 Gene COMPARTMENTS Subcellular localization image for BBS4 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for BBS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 15107855
GO:0005813 centrosome IDA 14520415
GO:0005814 centriole IDA 15107855
GO:0005829 cytosol TAS --
GO:0005929 cilium IDA 23943788
genes like me logo Genes that share ontologies with BBS4: view

Pathways for BBS4 Gene

SuperPathways for BBS4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BBS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization ISS --
GO:0000281 mitotic cytokinesis IMP 15107855
GO:0001843 neural tube closure ISS --
GO:0001895 retina homeostasis ISS --
GO:0001947 heart looping ISS --
genes like me logo Genes that share ontologies with BBS4: view

No data available for Pathways by source for BBS4 Gene

Transcripts for BBS4 Gene

Unigene Clusters for BBS4 Gene

Bardet-Biedl syndrome 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6: - - - -
SP7: - -
SP8: - - -
SP9:

Relevant External Links for BBS4 Gene

GeneLoc Exon Structure for
BBS4
ECgene alternative splicing isoforms for
BBS4

Expression for BBS4 Gene

mRNA expression in normal human tissues for BBS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BBS4 Gene

SOURCE GeneReport for Unigene cluster for BBS4 Gene Hs.208681

mRNA Expression by UniProt/SwissProt for BBS4 Gene

Q96RK4-BBS4_HUMAN
Tissue specificity: Ubiquitously expressed. The highest level of expression is found in the kidney
genes like me logo Genes that share expressions with BBS4: view

Orthologs for BBS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS4 36
  • 99.81 (n)
  • 100 (a)
BBS4 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BBS4 36
  • 90.56 (n)
  • 90.56 (a)
BBS4 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS4 36
  • 88.48 (n)
  • 90.62 (a)
BBS4 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs4 36
  • 88.16 (n)
  • 89.19 (a)
Bbs4 16
Bbs4 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BBS4 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS4 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs4 36
  • 87.9 (n)
  • 89.38 (a)
chicken
(Gallus gallus)
Aves BBS4 36
  • 74.25 (n)
  • 77.26 (a)
BBS4 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS4 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16419 36
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs4 36
  • 69.13 (n)
  • 72.94 (a)
zebrafish
(Danio rerio)
Actinopterygii bbs4 36
  • 73 (n)
  • 82.12 (a)
bbs4 37
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004828 36
  • 48.39 (n)
  • 38.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta BBS4 36
  • 48.16 (n)
  • 36.66 (a)
BBS4 37
  • 30 (a)
OneToOne
CG13232 38
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea bbs-4 37
  • 28 (a)
OneToOne
CELE_F58A4.14 36
  • 48.57 (n)
  • 36.36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5416 36
Species with no ortholog for BBS4:
  • 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 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 BBS4 Gene

ENSEMBL:
Gene Tree for BBS4 (if available)
TreeFam:
Gene Tree for BBS4 (if available)

Paralogs for BBS4 Gene

Paralogs for BBS4 Gene

genes like me logo Genes that share paralogs with BBS4: view

Variants for BBS4 Gene

Sequence variations from dbSNP and Humsavar for BBS4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs730180 -- 72,715,552(+) GAAGA(A/G)CATGG intron-variant
rs893454 -- 72,716,123(-) GAAAA(C/T)ACTGT intron-variant
rs998020 -- 72,707,294(+) GTGCC(C/T)AAGCC intron-variant
rs998021 -- 72,707,484(+) TCTTT(C/T)CCATT intron-variant
rs1051807 -- 72,738,096(+) TAAAA(A/G)AAAAA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for BBS4 Gene

Variant ID Type Subtype PubMed ID
dgv755e1 CNV Complex 17122850
nsv428307 CNV Gain 18775914
nsv483057 CNV Loss 15286789
nsv94389 CNV Loss 16902084
esv2749867 CNV Deletion 23290073

Relevant External Links for BBS4 Gene

HapMap Linkage Disequilibrium report
BBS4
Human Gene Mutation Database (HGMD)
BBS4
Locus Specific Mutation Databases (LSDB)
BBS4

Disorders for BBS4 Gene

(1) OMIM Diseases for BBS4 Gene (600374)

UniProtKB/Swiss-Prot

BBS4_HUMAN
  • Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]: 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:11381270, ECO:0000269 PubMed:12016587, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12872256, ECO:0000269 PubMed:15666242, ECO:0000269 PubMed:15770229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for BBS4 Gene

(5) Novoseek inferred disease relationships for BBS4 Gene

Disease -log(P) Hits PubMed IDs
bardet-biedl syndrome 95.2 8
polydactyly 83.6 1
retinal degeneration 67.4 1
retinitis pigmentosa 55.6 1
obesity 49.4 3

Relevant External Links for BBS4

GeneTests
BBS4
GeneReviews
BBS4
Genetic Association Database (GAD)
BBS4
Human Genome Epidemiology (HuGE) Navigator
BBS4
genes like me logo Genes that share disorders with BBS4: view

Publications for BBS4 Gene

  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. (PMID: 11381270) Mykytyn K. … Sheffield V.C. (Nat. Genet. 2001) 2 3 4 23
  2. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. (PMID: 15107855) Kim J.C. … Beales P.L. (Nat. Genet. 2004) 3 4 23
  3. Cloning and characterization of a splice variant of human Bardet- Biedl syndrome 4 gene (BBS4). (PMID: 15497446) Ye X. … Mao Y. (DNA Seq. 2004) 3 4 23
  4. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (PMID: 12365916) Riise R. … Sheffield V.C. (Arch. Ophthalmol. 2002) 3 23
  5. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (PMID: 7711739) Carmi R. … Sheffield V.C. (Hum. Mol. Genet. 1995) 2 3

Products for BBS4 Gene

Sources for BBS4 Gene

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