TTC3

TTC3
Identifiers
Aliases	TTC3 , DCRR1, RNF105, TPRDIII, tetratricopeptide repeat domain 3
External IDs	OMIM: 602259; MGI: 1276539; HomoloGene: 2487; GeneCards: TTC3; OMA:TTC3 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.13 Start 37,073,226 bp [1] End 37,203,112 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 C4|16 55.18 cM Start 94,370,618 bp [2] End 94,469,343 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in entorhinal cortex middle temporal gyrus tibia Brodmann area 23 postcentral gyrus external globus pallidus pars compacta lateral nuclear group of thalamus pars reticulata corpus epididymis Top expressed in substantia nigra dorsomedial hypothalamic nucleus paraventricular nucleus of hypothalamus suprachiasmatic nucleus ventromedial nucleus pontine nuclei Rostral migratory stream arcuate nucleus anterior amygdaloid area dorsal tegmental nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding ubiquitin-protein transferase activity transferase activity Cellular component nucleolus nucleus cytosol Biological process protein K48-linked ubiquitination protein ubiquitination ubiquitin-dependent protein catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7267 22129 Ensembl ENSG00000182670 ENSMUSG00000040785 UniProt P53804 O88196 RefSeq (mRNA) NM_001001894 NM_003316 NM_001320703 NM_001320704 NM_001330681 NM_001330682 NM_001330683 NM_001353936 NM_001353937 NM_001353938 NM_009441 RefSeq (protein) NP_001001894 NP_001307632 NP_001307633 NP_001317610 NP_001317611 NP_001317612 NP_003307 NP_001340865 NP_001340866 NP_001340867 XP_011249721.1 XP_011249722.1 XP_011249724.1 XP_011249725.1 XP_011249730.1 XP_011249731.1 XP_011249732.1 XP_011249733.1 Location (UCSC) Chr 21: 37.07 – 37.2 Mb Chr 16: 94.37 – 94.47 Mb PubMed search [3] [4]
Wikidata
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Tetratricopeptide repeat protein 3 is a protein that in humans is encoded by the TTC3 gene. ^{[5] [6]}

References

1. GRCh38: Ensembl release 89: ENSG00000182670 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040785 – 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. Tsukahara F, Hattori M, Muraki T, Sakaki Y (Mar 1997). "Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2". J Biochem. 120 (4): 820–7. doi: 10.1093/oxfordjournals.jbchem.a021485 . PMID   8947847.
6. "Entrez Gene: TTC3 tetratricopeptide repeat domain 3".

Further reading

• Ohira M, Ootsuyama A, Suzuki E, et al. (1996). "Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21". DNA Res. 3 (1): 9–16. doi: 10.1093/dnares/3.1.9 . PMID   8724848.
• Eki T, Abe M, Naitou M, et al. (1997). "Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2". DNA Seq. 7 (3–4): 153–64. doi:10.3109/10425179709034031. PMID   9254009.
• Dahmane N, Ghezala GA, Gosset P, et al. (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID   9503011.
• Rachidi M, Lopes C, Gassanova S, et al. (2000). "Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development". Mech. Dev. 93 (1–2): 189–93. doi: 10.1016/S0925-4773(00)00259-8 . PMID   10781955. S2CID   1109717.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi: 10.1038/35012518 . PMID   10830953.
• 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.
• 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.
• Berto G, Camera P, Fusco C, et al. (2007). "The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase". J. Cell Sci. 120 (Pt 11): 1859–67. doi: 10.1242/jcs.000703 . PMID   17488780.