DIAPH1

Diaphanous homolog 1 (Drosophila)
PDB rendering based on 1v9d.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1v9d​, 1z2c​, 2bap​, 2bnx​, 2f31​
Identifiers
Symbols	DIAPH1 ; DFNA1; DRF1; FLJ25265; LFHL1; hDIA1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 55880
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Diaphanous homolog 1 (Drosophila), also known as DIAPH1, is a human gene.

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Further reading

• Leon PE, Raventos H, Lynch E; et al. (1992). "The gene for an inherited form of deafness maps to chromosome 5q31". Proc. Natl. Acad. Sci. U.S.A. 89 (11): 5181–4. PMID 1350680.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reinhard M, Giehl K, Abel K; et al. (1995). "The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins". EMBO J. 14 (8): 1583–9. PMID 7737110.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andersson B, Wentland MA, Ricafrente JY; et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. PMID 9110174.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lynch ED, Lee MK, Morrow JE; et al. (1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. PMID 9360932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fujiwara T, Mammoto A, Kim Y, Takai Y (2000). "Rho small G-protein-dependent binding of mDia to an Src homology 3 domain-containing IRSp53/BAIAP2". Biochem. Biophys. Res. Commun. 271 (3): 626–9. doi:10.1006/bbrc.2000.2671. PMID 10814512.CS1 maint: Multiple names: authors list (link)
• Kato T, Watanabe N, Morishima Y; et al. (2001). "Localization of a mammalian homolog of diaphanous, mDia1, to the mitotic spindle in HeLa cells". J. Cell. Sci. 114 (Pt 4): 775–84. PMID 11171383.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Westendorf JJ (2002). "The formin/diaphanous-related protein, FHOS, interacts with Rac1 and activates transcription from the serum response element". J. Biol. Chem. 276 (49): 46453–9. doi:10.1074/jbc.M105162200. PMID 11590143.
• Sahai E, Marshall CJ (2002). "ROCK and Dia have opposing effects on adherens junctions downstream of Rho". Nat. Cell Biol. 4 (6): 408–15. doi:10.1038/ncb796. PMID 11992112.
• Montagnoli A, Bosotti R, Villa F; et al. (2002). "Drf1, a novel regulatory subunit for human Cdc7 kinase". EMBO J. 21 (12): 3171–81. doi:10.1093/emboj/cdf290. PMID 12065429.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tominaga T, Meng W, Togashi K; et al. (2003). "The Rho GTPase effector protein, mDia, inhibits the DNA binding ability of the transcription factor Pax6 and changes the pattern of neurite extension in cerebellar granule cells through its binding to Pax6". J. Biol. Chem. 277 (49): 47686–91. doi:10.1074/jbc.M207539200. PMID 12324464.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gevaert K, Goethals M, Martens L; et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vicente-Manzanares M, Rey M, Pérez-Martínez M; et al. (2003). "The RhoA effector mDia is induced during T cell activation and regulates actin polymerization and cell migration in T lymphocytes". J. Immunol. 171 (2): 1023–34. PMID 12847276.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stüven T, Hartmann E, Görlich D (2003). "Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes". EMBO J. 22 (21): 5928–40. doi:10.1093/emboj/cdg565. PMID 14592989.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yasuda S, Oceguera-Yanez F, Kato T; et al. (2004). "Cdc42 and mDia3 regulate microtubule attachment to kinetochores". Nature. 428 (6984): 767–71. doi:10.1038/nature02452. PMID 15085137.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mammoto A, Huang S, Moore K; et al. (2004). "Role of RhoA, mDia, and ROCK in cell shape-dependent control of the Skp2-p27kip1 pathway and the G1/S transition". J. Biol. Chem. 279 (25): 26323–30. doi:10.1074/jbc.M402725200. PMID 15096506.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rundle DR, Gorbsky G, Tsiokas L (2004). "PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles". J. Biol. Chem. 279 (28): 29728–39. doi:10.1074/jbc.M400544200. PMID 15123714.CS1 maint: Multiple names: authors list (link)
• Carreira S, Goodall J, Denat L; et al. (2007). "Mitf regulation of Dia1 controls melanoma proliferation and invasiveness". Genes Dev. 20 (24): 3426–39. doi:10.1101/gad.406406. PMID 17182868.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)