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BBS1

Identifiers

BBS1, BBS2L2, Bardet-Biedl syndrome 1

External IDs

OMIM: 209901; MGI: 1277215; HomoloGene: 11641; GeneCards: BBS1; OMA:BBS1 - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q13.2	Start	66,510,606 bp^[1]
Band	11q13.2	End	66,533,613 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19\|19 A	Start	4,936,906 bp^[2]
Band	19\|19 A	End	4,956,656 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right uterine tube

left ovary

pituitary gland

right ovary

right lobe of thyroid gland

right hemisphere of cerebellum

body of uterus

anterior pituitary

left lobe of thyroid gland

right frontal lobe

Top expressed in

neural layer of retina

otolith organ

spermatocyte

utricle

Epithelium of choroid plexus

substantia nigra

olfactory epithelium

pineal gland

habenula

piriform cortex

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	smoothened binding patched binding protein binding
Cellular component	cytoplasm ciliary basal body cytosol centrosome cell projection BBSome membrane plasma membrane cilium microtubule organizing center ciliary membrane axoneme cytoskeleton
Biological process	response to stimulus retina homeostasis cell projection organization protein localization to cilium protein transport photoreceptor cell maintenance visual perception Golgi to plasma membrane protein transport cilium assembly non-motile cilium assembly sensory perception of smell
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


582


52028

Ensembl


ENSG00000174483


ENSMUSG00000006464

UniProt


Q8NFJ9


Q3V3N7

RefSeq (mRNA)


NM_024649


NM_001033128

RefSeq (protein)


NP_078925


NP_001028300

Location (UCSC)

Chr 11: 66.51 – 66.53 Mb

Chr 19: 4.94 – 4.96 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.^[5]^[6]^[7] BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome.

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Transcription

History

As of 2008^[update], research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.^[7]^{[needs update]}

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000174483 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006464 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). "Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families". J Med Genet. 34 (2): 92–8. doi:10.1136/jmg.34.2.92. PMC 1050859. PMID 9039982.
^ Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 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.
^ ^a ^b "Entrez Gene: BBS1 Bardet–Biedl syndrome 1".

External links

GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome

External links

Human BBS1 genome location and BBS1 gene details page in the UCSC Genome Browser.

Katsanis N, Lewis RA, Stockton DW, et al. (2000). "Delineation of the critical interval of Bardet–Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees". Am. J. Hum. Genet. 65 (6): 1672–9. doi:10.1086/302684. PMC 1288378. PMID 10577921.
Young TL, Woods MO, Parfrey PS, et al. (2000). "A founder effect in the newfoundland population reduces the Bardet–Biedl syndrome I (BBS1) interval to 1 cM". Am. J. Hum. Genet. 65 (6): 1680–7. doi:10.1086/302686. PMC 1288379. PMID 10577922.
Beales PL, Reid HA, Griffiths MH, et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome". Nephrol. Dial. Transplant. 15 (12): 1977–85. doi:10.1093/ndt/15.12.1977. PMID 11096143.
Mykytyn K, Nishimura DY, Searby CC, et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome". Nat. Genet. 31 (4): 435–8. doi:10.1038/ng935. PMID 12118255. S2CID 29915446.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
Mykytyn K, Nishimura DY, Searby CC, et al. (2003). "Evaluation of complex inheritance involving the most common Bardet–Biedl syndrome locus (BBS1)". Am. J. Hum. Genet. 72 (2): 429–37. doi:10.1086/346172. PMC 379234. PMID 12524598.
Beales PL, Badano JL, Ross AJ, et al. (2003). "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome". Am. J. Hum. Genet. 72 (5): 1187–99. doi:10.1086/375178. PMC 1180271. PMID 12677556.
Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. doi:10.1093/hmg/ddg188. PMID 12837689.
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.
Fan Y, Esmail MA, Ansley SJ, et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome". Nat. Genet. 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642.
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.
Fan Y, Green JS, Ross AJ, et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval". Hum. Genet. 116 (1–2): 62–71. doi:10.1007/s00439-004-1184-9. PMID 15517396. S2CID 2305942.
Azari AA, Aleman TS, Cideciyan AV, et al. (2006). "Retinal disease expression in Bardet–Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration". Invest. Ophthalmol. Vis. Sci. 47 (11): 5004–10. doi:10.1167/iovs.06-0517. PMID 17065520.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

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This page was last edited on 18 October 2022, at 13:28

BBS1

From Wikipedia, the free encyclopedia

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Transcription

History

References

External links

External links

Further reading