Human Gene DIAPH1 (uc003llc.4) Description and Page Index
Description: Homo sapiens diaphanous-related formin 1 (DIAPH1), transcript variant 2, mRNA. RefSeq Summary (NM_001079812): 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]. Transcript (Including UTRs) Position: hg19 chr5:140,894,588-140,998,622 Size: 104,035 Total Exon Count: 27 Strand: - Coding Region Position: hg19 chr5:140,896,418-140,998,481 Size: 102,064 Coding Exon Count: 27
ID:E9PEZ2_HUMAN DESCRIPTION: SubName: Full=Protein diaphanous homolog 1; SIMILARITY: Contains 1 FH2 (formin homology 2) domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DIAPH1 CDC HuGE Published Literature: DIAPH1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E9PEZ2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK094264 - Homo sapiens cDNA FLJ36945 fis, clone BRACE2005642, highly similar to DIAPHANOUS PROTEIN HOMOLOG 1. AF051782 - Homo sapiens diaphanous 1 (HDIA1) mRNA, complete cds. DQ067453 - Homo sapiens diaphanous-1 (DIAPH1) mRNA, complete cds. AK057994 - Homo sapiens cDNA FLJ25265 fis, clone STM05317. AB209482 - Homo sapiens mRNA for Diaphanous 1 variant protein. BC007411 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:2967490), partial cds. AK301195 - Homo sapiens cDNA FLJ55595 complete cds, highly similar to Protein diaphanous homolog 1. BC117257 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone MGC:150866 IMAGE:40125808), complete cds. BC143413 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone MGC:176938 IMAGE:9051921), complete cds. BC143414 - Homo sapiens cDNA clone IMAGE:9051922. AY363395 - Homo sapiens diaphanous 1 mRNA, complete cds. BT007318 - Homo sapiens diaphanous homolog 1 (Drosophila) mRNA, complete cds. AB384958 - Synthetic construct DNA, clone: pF1KB4524, Homo sapiens DIAPH1 gene for protein diaphanous homolog 1, complete cds, without stop codon, in Flexi system. AL050086 - Homo sapiens mRNA; cDNA DKFZp434M211 (from clone DKFZp434M211). AY007129 - Homo sapiens clone CDABP0038 mRNA sequence. JD245201 - Sequence 226225 from Patent EP1572962. JD150403 - Sequence 131427 from Patent EP1572962. JD464392 - Sequence 445416 from Patent EP1572962. JD467806 - Sequence 448830 from Patent EP1572962. JD444709 - Sequence 425733 from Patent EP1572962. JD085958 - Sequence 66982 from Patent EP1572962. JD191503 - Sequence 172527 from Patent EP1572962. JD163056 - Sequence 144080 from Patent EP1572962. JD081403 - Sequence 62427 from Patent EP1572962. JD050554 - Sequence 31578 from Patent EP1572962. JD437614 - Sequence 418638 from Patent EP1572962. JD448041 - Sequence 429065 from Patent EP1572962. JD079323 - Sequence 60347 from Patent EP1572962. JD086492 - Sequence 67516 from Patent EP1572962. JD121169 - Sequence 102193 from Patent EP1572962. JD161759 - Sequence 142783 from Patent EP1572962. JD100051 - Sequence 81075 from Patent EP1572962. JD465410 - Sequence 446434 from Patent EP1572962. JD293800 - Sequence 274824 from Patent EP1572962. JD276989 - Sequence 258013 from Patent EP1572962. JD051844 - Sequence 32868 from Patent EP1572962. JD475062 - Sequence 456086 from Patent EP1572962. JD277840 - Sequence 258864 from Patent EP1572962. JD283002 - Sequence 264026 from Patent EP1572962. JD353617 - Sequence 334641 from Patent EP1572962. JD244489 - Sequence 225513 from Patent EP1572962. JD234971 - Sequence 215995 from Patent EP1572962. JD428568 - Sequence 409592 from Patent EP1572962. JD197228 - Sequence 178252 from Patent EP1572962. JD061543 - Sequence 42567 from Patent EP1572962. JD162948 - Sequence 143972 from Patent EP1572962. JD271909 - Sequence 252933 from Patent EP1572962. JD423750 - Sequence 404774 from Patent EP1572962. JD136640 - Sequence 117664 from Patent EP1572962. JD055901 - Sequence 36925 from Patent EP1572962. JD189688 - Sequence 170712 from Patent EP1572962. JD399633 - Sequence 380657 from Patent EP1572962. LC180357 - Homo sapiens DIAPH1 mRNA for diaphanous homolog 1, complete cds. AK307822 - Homo sapiens cDNA, FLJ97770. DQ067452 - Homo sapiens diaphanous-1 (DIAPH1) mRNA, partial cds. AK023345 - Homo sapiens cDNA FLJ13283 fis, clone OVARC1001113, highly similar to Homo sapiens diaphanous 1 (HDIA1) mRNA. AY360322 - Homo sapiens diaphanous 1 mRNA, partial cds. LF343296 - JP 2014500723-A/150799: Polycomb-Associated Non-Coding RNAs. LF211027 - JP 2014500723-A/18530: Polycomb-Associated Non-Coding RNAs. LF343297 - JP 2014500723-A/150800: Polycomb-Associated Non-Coding RNAs. LF343298 - JP 2014500723-A/150801: Polycomb-Associated Non-Coding RNAs. LF343301 - JP 2014500723-A/150804: Polycomb-Associated Non-Coding RNAs. AK127054 - Homo sapiens cDNA FLJ45111 fis, clone BRAWH3034134. AK304291 - Homo sapiens cDNA FLJ61549 complete cds, highly similar to Protein diaphanous homolog 1. MA578873 - JP 2018138019-A/150799: Polycomb-Associated Non-Coding RNAs. MA578874 - JP 2018138019-A/150800: Polycomb-Associated Non-Coding RNAs. MA578875 - JP 2018138019-A/150801: Polycomb-Associated Non-Coding RNAs. MA578878 - JP 2018138019-A/150804: Polycomb-Associated Non-Coding RNAs. MA446604 - JP 2018138019-A/18530: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04510 - Focal adhesion hsa04810 - Regulation of actin cytoskeleton hsa05131 - Shigellosis
BioCarta from NCI Cancer Genome Anatomy Project h_ecmPathway - Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia h_malPathway - Role of MAL in Rho-Mediated Activation of SRF h_rhoPathway - Rho cell motility signaling pathway