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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
  • Protein PTHB1 3
  • PTHB1, 6
  • 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 bardet-biedl syndrome 9 and bbs9-related bardet-biedl syndrome.

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

Start:
33,129,244 bp from pter
End:
33,606,068 bp from pter
Size:
476,825 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};

    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 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 Gene Families and 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

CRISPR Products

miRNA for BBS9 Gene

miRTarBase miRNAs that target BBS9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 4
cytosol 3
mitochondrion 1

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:0005886 plasma membrane --
GO:0005929 cilium IDA 22139371
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with BBS9: view

Pathways for BBS9 Gene

SuperPathways for BBS9 Gene

No Data Available

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 Pathways by source for BBS9 Gene

Compounds for BBS9 Gene

(2) Novoseek inferred chemical compound relationships for BBS9 Gene

Compound -log(P) Hits PubMed IDs
dopamine 12.2 3
tyrosine 4.75 1
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BBS9

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BBS9

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with BBS9: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia BBS9 35
  • 99.66 (n)
  • 99.66 (a)
BBS9 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia BBS9 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs9 35
  • 83.77 (n)
  • 86.97 (a)
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

Relevant External Links for BBS9 Gene

HapMap Linkage Disequilibrium report
BBS9
Human Gene Mutation Database (HGMD)
BBS9
Locus Specific Mutation Databases (LSDB)
BBS9

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

Disorders for BBS9 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for BBS9 Gene including...

Search for BBS9 Gene in MalaCards »

(1) OMIM Diseases for BBS9 Gene (607968)

UniProtKB/Swiss-Prot

PTHB1_HUMAN
  • Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.
  • 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.

(1) University of Copenhagen DISEASES for BBS9 Gene

Relevant External Links for BBS9

GeneTests
BBS9
GeneReviews
BBS9
Genetic Association Database (GAD)
BBS9
Human Genome Epidemiology (HuGE) Navigator
BBS9
genes like me logo Genes that share disorders with BBS9: view

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 3 4 23
  2. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. (PMID: 18349106) Kang H. … Kwack K. (Hum. Reprod. 2008) 3 23 48
  3. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells. (PMID: 10221542) Adams A.E. … Suva L.J. (Bone 1999) 2 3 4
  4. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. (PMID: 12618763) Vernon E.G. … Brown K.W. (Oncogene 2003) 3 4 23
  5. 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

Products for BBS9 Gene

Sources for BBS9 Gene

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