TTC8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.[5]

TTC8
Identifiers
Aliases	TTC8, BBS8, RP51, tetratricopeptide repeat domain 8
External IDs	OMIM: 608132 MGI: 1923510 HomoloGene: 14988 GeneCards: TTC8
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q31.3 Start 88,824,153 bp[1] End 88,881,078 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 98,920,574 bp[2] End 98,983,238 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • RNA polymerase II repressing transcription factor binding Cellular component • cytoplasm • ciliary basal body • cytosol • centrosome • cell membrane • cell projection • cilium • cytoskeleton • membrane • ciliary membrane • microtubule organizing center • BBSome • non-motile cilium • photoreceptor connecting cilium Biological process • protein transport • establishment of anatomical structure orientation • sensory processing • cell projection organization • cilium morphogenesis • non-motile cilium assembly • axon guidance • sensory perception of smell • olfactory bulb development • GO:0034259 negative regulation of GTPase activity • camera-type eye photoreceptor cell differentiation • renal tubule development • fat cell differentiation • regulation of stress fiber assembly • multicellular organism growth • regulation of protein localization • establishment of planar polarity • inner ear receptor stereocilium organization • multi-ciliated epithelial cell differentiation • protein localization to plasma membrane Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	123016	76260
Ensembl	ENSG00000165533	ENSMUSG00000021013
UniProt	Q8TAM2	Q8VD72
RefSeq (mRNA)	NM_001288781 NM_001288782 NM_001288783 NM_144596 NM_198309 NM_198310 NM_001366535 NM_001366536	NM_029553 NM_198311 NM_001364378
RefSeq (protein)	NP_001275710 NP_001275711 NP_001275712 NP_653197 NP_938051 NP_938052 NP_001353464 NP_001353465 NP_001275710.1	NP_083829 NP_938053 NP_001351307
Location (UCSC)	Chr 14: 88.82 – 88.88 Mb	Chr 12: 98.92 – 98.98 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.[5] PCM1 in turn is involved in centriolar replication during ciliogenesis.[6]

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.[5]

Clinical significance

Mutations in the TTC8 gene is one of 14 genes[7] identified as causal for Bardet–Biedl syndrome.[5][8]

References

1. GRCh38: Ensembl release 89: ENSG00000165533 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021013 - 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. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome". Nature. 425 (6958): 628–33. doi:10.1038/nature02030. PMID 14520415.
6. Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N (November 1999). "Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis". J. Cell Biol. 147 (5): 969–80. doi:10.1083/jcb.147.5.969. PMC 2169353. PMID 10579718.
7. Hamosh, Ada (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS". Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Retrieved 2013-09-04.
8. Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H (2006). "BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families". J. Hum. Genet. 51 (1): 81–4. doi:10.1007/s10038-005-0320-2. PMID 16308660.

Further reading

• 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.
• 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.
• Riazuddin SA, Iqbal M, Wang Y, et al. (2010). "A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa". Am. J. Hum. Genet. 86 (5): 805–12. doi:10.1016/j.ajhg.2010.04.001. PMC 2869005. PMID 20451172.
• 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. 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.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome a
• TTC8 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)