BBS7

Protein-coding gene in the species Homo sapiens
BBS7
Identifiers
AliasesBBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDsOMIM: 607590; MGI: 1918742; HomoloGene: 12395; GeneCards: BBS7; OMA:BBS7 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for BBS7
Genomic location for BBS7
Band4q27Start121,824,329 bp[1]
End121,870,487 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for BBS7
Genomic location for BBS7
Band3|3 BStart36,627,291 bp[2]
End36,667,626 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Achilles tendon

  • lateral nuclear group of thalamus

  • Brodmann area 23

  • primary visual cortex

  • postcentral gyrus

  • prefrontal cortex

  • testicle

  • superior frontal gyrus

  • secondary oocyte
Top expressed in
  • neural layer of retina

  • ovarian follicle

  • spermatid

  • spermatocyte

  • secondary follicle of ovary

  • seminiferous tubule

  • retinal pigment epithelium

  • genital tubercle

  • olfactory epithelium

  • otolith organ
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • ciliary basal body
  • cytosol
  • centrosome
  • cell projection
  • BBSome
  • membrane
  • plasma membrane
  • photoreceptor outer segment
  • cilium
  • microtubule organizing center
  • ciliary membrane
  • axoneme
  • cytoskeleton
  • nucleus
  • neuron projection
Biological process
  • eye development
  • protein localization
  • pigment granule aggregation in cell center
  • response to stimulus
  • regulation of transcription by RNA polymerase II
  • intracellular transport
  • limb development
  • heart looping
  • heart development
  • brain development
  • determination of left/right symmetry
  • cell projection organization
  • melanosome transport
  • protein transport
  • smoothened signaling pathway
  • fat cell differentiation
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • visual perception
  • digestive tract morphogenesis
  • cilium assembly
  • non-motile cilium assembly
  • primary palate development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55212

71492

Ensembl

ENSG00000138686

ENSMUSG00000037325

UniProt

Q8IWZ6

Q8K2G4

RefSeq (mRNA)

NM_018190
NM_176824

NM_027810

RefSeq (protein)

NP_060660
NP_789794

NP_082086

Location (UCSC)Chr 4: 121.82 – 121.87 MbChr 3: 36.63 – 36.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[5]

Mutations in this gene are associated with the Bardet–Biedl syndrome.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138686 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037325 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324.

Further reading

  • Oeffner F, Moch C, Neundorf A, et al. (2008). "Novel interaction partners of Bardet-Biedl syndrome proteins". Cell Motil. Cytoskeleton. 65 (2): 143–55. doi:10.1002/cm.20250. PMID 18000879.
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
  • Nachury MV, Loktev AV, Zhang Q, et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis". Cell. 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030. S2CID 11917072.
  • Chung WK, Patki A, Matsuoka N, et al. (2009). "Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations". Hum. Hered. 67 (3): 193–205. doi:10.1159/000181158. PMC 2715950. PMID 19077438.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Yang Z, Yang Y, Zhao P, et al. (2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family". Mol. Vis. 14: 2304–8. PMC 2603185. PMID 19093007.
  • Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science. 293 (5538): 2256–9. Bibcode:2001Sci...293.2256K. doi:10.1126/science.1063525. PMID 11567139. S2CID 41822166.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population". Hum. Mutat. 30 (7): E737–46. doi:10.1002/humu.21040. PMID 19402160. S2CID 11446097.

External links

  • GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome
  • Bbs7 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Human BBS7 genome location and BBS7 gene details page in the UCSC Genome Browser.


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