TTC8 (original) (raw)

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Protein-coding gene in the species Homo sapiens

TTC8
Identifiers
Aliases	TTC8, BBS8, RP51, tetratricopeptide repeat domain 8
External IDs	OMIM: 608132; MGI: 1923510; HomoloGene: 14988; GeneCards: TTC8; OMA:TTC8 - orthologs
Gene location (Human)Chr.Chromosome 14 (human)[1]Band14q31.3Start88,824,153 bp[1]End88,881,078 bp[1]
Gene location (Mouse)Chr.Chromosome 12 (mouse)[2]Band12|12 EStart98,886,833 bp[2]End98,949,497 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inleft ovaryislet of Langerhansright adrenal cortexright uterine tubepituitary glandright ovaryanterior pituitaryleft adrenal glandleft adrenal cortexstromal cell of endometriumTop expressed inneural layer of retinaolfactory epitheliumgenital tuberclemedian eminencearcuate nucleuspineal glandtail of embryohabenulaparaventricular nucleus of hypothalamusdorsomedial hypothalamic nucleusMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome plasma 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 assembly non-motile cilium assembly axon guidance sensory perception of smell olfactory bulb development 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 cell stereocilium organization multi-ciliated epithelial cell differentiation protein localization to plasma membrane Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez12301676260EnsemblENSG00000165533ENSMUSG00000021013UniProtQ8TAM2Q8VD72RefSeq (mRNA)NM_001288781NM_001288782NM_001288783NM_144596NM_198309NM_198310NM_001366535NM_001366536NM_029553NM_198311NM_001364378RefSeq (protein)NP_001275710NP_001275711NP_001275712NP_653197NP_938051NP_938052NP_001353464NP_001353465NP_001275710.1NP_083829NP_938053NP_001351307Location (UCSC)Chr 14: 88.82 – 88.88 MbChr 12: 98.89 – 98.95 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 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

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

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165533 – Ensembl, May 2017
2. ^ a b c 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. ^ a b c d 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. Bibcode:2003Natur.425..628A. doi:10.1038/nature02030. PMID 14520415. S2CID 4310157.
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 A (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.

• 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. 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.

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome a

• TTC8 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)