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Aliases for BBS9 Gene

Aliases for BBS9 Gene

  • Bardet-Biedl Syndrome 9 2 3
  • Parathyroid Hormone-Responsive B1 Gene Protein 3 4
  • Bardet-Biedl Syndrome 9 Protein 3 4
  • PTHB1 3 4
  • Parathyroid Hormone Responsive B1 Gene 2
  • PTH-Responsive Osteosarcoma B1 Protein 3
  • C18 3
  • B1 3
  • D1 3

External Ids for BBS9 Gene

Previous GeneCards Identifiers for BBS9 Gene

  • GC07P033136
  • GC07P033048

Summaries for BBS9 Gene

Entrez Gene Summary for BBS9 Gene

  • This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for BBS9 Gene

BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include bbs9-related bardet-biedl syndrome and bardet-biedl syndrome 9. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

UniProtKB/Swiss-Prot for BBS9 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. Required for proper BBSome complex assembly and its ciliary localization.

Gene Wiki entry for BBS9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS9 Gene

Genomics for BBS9 Gene

Regulatory Elements for BBS9 Gene

Epigenetics Products

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

Genomic Location for BBS9 Gene

Chromosome:
7
Start:
33,129,244 bp from pter
End:
33,635,769 bp from pter
Size:
506,526 bases
Orientation:
Plus strand

Genomic View for BBS9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS9 Gene

Proteins for BBS9 Gene

  • Protein details for BBS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SYG4-PTHB1_HUMAN
    Recommended name:
    Protein PTHB1
    Protein Accession:
    Q3SYG4
    Secondary Accessions:
    • E9PDC9
    • P78514
    • Q7KYS6
    • Q7KYS7
    • Q8N570
    • Q99844
    • Q99854
    • Q9Y699
    • Q9Y6A0

    Protein attributes for BBS9 Gene

    Size:
    887 amino acids
    Molecular mass:
    99280 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.
    SequenceCaution:
    • Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera.; Evidence={ECO:0000305}; Sequence=AAD25981.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BBS9 Gene

    Alternative splice isoforms for BBS9 Gene

neXtProt entry for BBS9 Gene

Proteomics data for BBS9 Gene at MOPED

Post-translational modifications for BBS9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBS9 Gene

Domains & Families for BBS9 Gene

Gene Families for BBS9 Gene

Protein Domains for BBS9 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BBS9: view

No data available for UniProtKB/Swiss-Prot for BBS9 Gene

Function for BBS9 Gene

Molecular function for BBS9 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. Required for proper BBSome complex assembly and its ciliary localization.
UniProtKB/Swiss-Prot Induction:
Down-regulated by parathyroid hormone.

Gene Ontology (GO) - Molecular Function for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 17574030
genes like me logo Genes that share ontologies with BBS9: view

Phenotypes for BBS9 Gene

GenomeRNAi human phenotypes for BBS9:
genes like me logo Genes that share phenotypes with BBS9: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BBS9 Gene

Localization for BBS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS9 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS9 Gene COMPARTMENTS Subcellular localization image for BBS9 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 22139371
GO:0005829 cytosol TAS --
GO:0005929 cilium IDA 22139371
GO:0016020 membrane IBA --
GO:0034451 centriolar satellite IDA 23943788
genes like me logo Genes that share ontologies with BBS9: view

Pathways & Interactions for BBS9 Gene

genes like me logo Genes that share pathways with BBS9: view

Gene Ontology (GO) - Biological Process for BBS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007601 visual perception IEA --
GO:0015031 protein transport IEA --
GO:0042384 cilium assembly IBA --
GO:0045444 fat cell differentiation ISS --
genes like me logo Genes that share ontologies with BBS9: view

No data available for SIGNOR curated interactions for BBS9 Gene

Drugs & Compounds for BBS9 Gene

(2) Drugs for BBS9 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist 2814
tyrosine Nutra 547
genes like me logo Genes that share compounds with BBS9: view

Transcripts for BBS9 Gene

Unigene Clusters for BBS9 Gene

Bardet-Biedl syndrome 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS9 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18
SP1: - - - - - -
SP2: - -
SP3: -
SP4: - -
SP5: -

Relevant External Links for BBS9 Gene

GeneLoc Exon Structure for
BBS9
ECgene alternative splicing isoforms for
BBS9

Expression for BBS9 Gene

mRNA expression in normal human tissues for BBS9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (51.1) and Retina (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BBS9 Gene



SOURCE GeneReport for Unigene cluster for BBS9 Gene Hs.372360

mRNA Expression by UniProt/SwissProt for BBS9 Gene

Q3SYG4-PTHB1_HUMAN
Tissue specificity: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
genes like me logo Genes that share expression patterns with BBS9: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for BBS9 Gene

Orthologs for BBS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BBS9 35
  • 90.57 (n)
  • 91.09 (a)
BBS9 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS9 35
  • 91.69 (n)
  • 92.22 (a)
BBS9 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs9 35
  • 84.2 (n)
  • 87.84 (a)
Bbs9 16
Bbs9 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BBS9 35
  • 99.66 (n)
  • 99.66 (a)
BBS9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs9 35
  • 83.77 (n)
  • 86.97 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia BBS9 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves BBS9 35
  • 74.55 (n)
  • 74.29 (a)
BBS9 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS9 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs9 35
  • 70.81 (n)
  • 74.16 (a)
zebrafish
(Danio rerio)
Actinopterygii bbs9 35
  • 63.15 (n)
  • 63.11 (a)
bbs9 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006166 35
  • 42.91 (n)
  • 32.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15666 35
  • 43.55 (n)
  • 31.66 (a)
CG15666 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bbs-9 35
  • 42.59 (n)
  • 26.67 (a)
bbs-9 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for BBS9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 BBS9 Gene

ENSEMBL:
Gene Tree for BBS9 (if available)
TreeFam:
Gene Tree for BBS9 (if available)

Paralogs for BBS9 Gene

No data available for Paralogs for BBS9 Gene

Variants for BBS9 Gene

Sequence variations from dbSNP and Humsavar for BBS9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs720676 -- 33,155,274(-) tctcc(C/T)tgagc intron-variant
rs721533 -- 33,198,131(-) TGTTC(A/G)CAAAT intron-variant
rs721851 -- 33,489,922(-) GGTAT(C/T)AATAT intron-variant
rs723300 -- 33,483,111(-) ATTCC(C/T)CCCGC intron-variant
rs726463 -- 33,477,911(+) GTGTC(A/G)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BBS9 Gene

Variant ID Type Subtype PubMed ID
dgv1127e201 CNV Deletion 23290073
nsv436907 CNV Insertion 17901297
nsv830942 CNV Gain 17160897
nsv508450 CNV Loss 20534489
dgv808n27 CNV Gain 19166990
nsv520406 CNV Gain 19592680
nsv830943 CNV Gain 17160897
esv2674206 CNV Deletion 23128226
dgv1097n67 CNV Loss 20364138
esv2734230 CNV Deletion 23290073
esv22864 CNV Loss 19812545
esv2657892 CNV Deletion 23128226
nsv819841 CNV Loss 19587683
esv7864 CNV Loss 19470904
nsv824058 CNV Loss 20364138
esv270812 CNV Insertion 20981092
esv272303 CNV Insertion 20981092
esv271895 CNV Insertion 20981092
nsv521481 CNV Loss 19592680
nsv524473 CNV Loss 19592680
nsv887925 CNV Loss 21882294
esv2734231 CNV Deletion 23290073
nsv830944 CNV Gain 17160897
nsv511958 CNV Loss 21212237
esv2633060 CNV Deletion 19546169
esv1937243 CNV Deletion 18987734
esv5341 CNV Deletion 18987735
esv2734232 CNV Deletion 23290073
esv7559 CNV Loss 19470904
nsv523843 CNV Loss 19592680
esv2672273 CNV Deletion 23128226
nsv520794 CNV Loss 19592680
nsv830945 CNV Loss 17160897
esv992894 CNV Loss 20482838
nsv523799 CNV Loss 19592680
nsv464424 CNV Loss 19166990
nsv528526 CNV Loss 19592680
nsv523888 CNV Loss 19592680

Variation tolerance for BBS9 Gene

Residual Variation Intolerance Score: 32.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.96; 84.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS9 Gene

HapMap Linkage Disequilibrium report
BBS9
Human Gene Mutation Database (HGMD)
BBS9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS9 Gene

Disorders for BBS9 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BBS9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bbs9-related bardet-biedl syndrome
  • bbs9
bardet-biedl syndrome 9
  • bbs9
bardet-biedl syndrome 12
  • bbs12
bardet-biedl syndrome 3
  • bbs3
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
- elite association
Search BBS9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTHB1_HUMAN
  • Bardet-Biedl syndrome 9 (BBS9) [MIM:615986]: 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:16380913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.

Relevant External Links for BBS9

Genetic Association Database (GAD)
BBS9
Human Genome Epidemiology (HuGE) Navigator
BBS9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS9
genes like me logo Genes that share disorders with BBS9: view

No data available for Genatlas for BBS9 Gene

Publications for BBS9 Gene

  1. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (PMID: 16380913) Nishimura D.Y. … Sheffield V.C. (Am. J. Hum. Genet. 2005) 2 23 67
  2. Tumor cell cycle arrest induced by shear stress: Roles of integrins and Smad. (PMID: 18310319) Chang S.F. … Chiu J.J. (Proc. Natl. Acad. Sci. U.S.A. 2008) 23 67
  3. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. (PMID: 18349106) Kang H. … Kwack K. (Hum. Reprod. 2008) 23 67
  4. The novel bone alkaline phosphatase B1x isoform in children with kidney disease. (PMID: 16932897) Swolin-Eide D. … Magnusson P. (Pediatr. Nephrol. 2006) 23 67
  5. Anticancer effects of zoledronic acid against human osteosarcoma cells. (PMID: 16602111) Kubista B. … Berger W. (J. Orthop. Res. 2006) 23 67

Products for BBS9 Gene

Sources for BBS9 Gene

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