| Tbio | Protein diaphanous homolog 1 |
Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755).
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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Deafness, Autosomal Dominant 1 | 1 | 0.0 | 0.0 |
| Seizures, Cortical Blindness, and Microcephaly Syndrome | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 1.5e-23 |
| osteosarcoma | 7950 | 2.2e-08 |
| acute quadriplegic myopathy | 1158 | 2.3e-08 |
| malignant mesothelioma | 3232 | 7.9e-06 |
| psoriasis | 6694 | 3.5e-04 |
| ovarian cancer | 8520 | 4.4e-04 |
| colon cancer | 1478 | 5.7e-04 |
| spina bifida | 1074 | 4.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 142 | 3.95 | 2.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Constipation | 181 | 3.447 | 1.7 |
| Sensorineural hearing loss | 106 | 3.173 | 1.6 |
| Disease | Target Count |
|---|---|
| autosomal dominant nonsyndromic deafness 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.269 | 2.3e-08 |
| colon cancer | 1.200 | 5.7e-04 |
| lung carcinoma | -1.400 | 1.5e-23 |
| malignant mesothelioma | 1.100 | 7.9e-06 |
| osteosarcoma | 2.097 | 2.2e-08 |
| ovarian cancer | 1.200 | 4.4e-04 |
| psoriasis | 1.700 | 3.5e-04 |
| spina bifida | -1.054 | 4.5e-02 |
MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRN 1 - 70 SSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKE 71 - 140 SSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYD 141 - 210 SRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVL 211 - 280 EAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDL 281 - 350 REIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV 351 - 420 RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDS 421 - 490 ELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKK 491 - 560 EMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSP 561 - 630 PSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGI 631 - 700 PPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPK 701 - 770 KLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS 771 - 840 VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSEL 841 - 910 KDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEIT 911 - 980 LLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRV 981 - 1050 SAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGE 1051 - 1120 YFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMN 1121 - 1190 AEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI 1191 - 1260 LEEAKELVGRAS 1261 - 1272 //
