TRIOBP
From Wikipedia, the free encyclopedia
TRIO and F-actin binding protein
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Identifiers | ||||||||||||||
Symbol(s) | TRIOBP; DFNB28; FLJ39315; HRIHFB2122; KIAA1662; TARA; dJ37E16.4 | |||||||||||||
External IDs | OMIM: 609761 MGI: 1349410 HomoloGene: 5104 | |||||||||||||
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Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 11078 | 110253 | ||||||||||||
Ensembl | ENSG00000100106 | ENSMUSG00000033088 | ||||||||||||
Uniprot | Q9H2D6 | Q99KW3 | ||||||||||||
Refseq | NM_001039141 (mRNA) NP_001034230 (protein) |
NM_001024716 (mRNA) NP_001019887 (protein) |
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Location | Chr 22: 36.44 - 36.5 Mb | Chr 15: 78.78 - 78.83 Mb | ||||||||||||
Pubmed search | [1] | [2] |
TRIO and F-actin binding protein, also known as TRIOBP, is a human gene.[1]
This gene encodes a protein that interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. This trio-binding protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD).[1]
[edit] References
[edit] Further reading
- Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99-106. PMID 12168954.
- Mayer BJ, Ren R, Clark KL, Baltimore D (1993). "A putative modular domain present in diverse signaling proteins.". Cell 73 (4): 629-30. PMID 8500161.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548.
- Ueki N, Oda T, Kondo M, et al. (1999). "Selection system for genes encoding nuclear-targeted proteins.". Nat. Biotechnol. 16 (13): 1338-42. doi: . PMID 9853615.
- Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489-95. doi: . PMID 10591208.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863.
- Seipel K, O'Brien SP, Iannotti E, et al. (2001). "Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization.". J. Cell. Sci. 114 (Pt 2): 389-99. PMID 11148140.
- Hirosawa M, Nagase T, Murahashi Y, et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.". DNA Res. 8 (1): 1-9. PMID 11258795.
- 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. doi: . 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: . PMID 14702039.
- 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: . PMID 15489334.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136-44. doi: . PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415-8. doi: . PMID 16381901.
- Riazuddin S, Khan SN, Ahmed ZM, et al. (2006). "Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.". Am. J. Hum. Genet. 78 (1): 137-43. doi: . PMID 16385457.
- Shahin H, Walsh T, Sobe T, et al. (2006). "Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.". Am. J. Hum. Genet. 78 (1): 144-52. doi: . PMID 16385458.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635-48. doi: . PMID 17081983.
- Li X, Lan J, Zhu Y, et al. (2007). "Expression, purification, and characterization of Tara, a novel telomere repeat-binding factor 1 (TRF1)-binding protein.". Protein Expr. Purif. 55 (1): 84-92. doi: . PMID 17629495.