DIAPH1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| diaphanous related formin 1 | MIM:602121 | Ensembl:ENSG00000131504 | HGNC:HGNC:2876 | PA27333 | 5q31.3 |
GO terms in DIAPH1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IEA | GO:0003779 | actin binding |
| MF | NAS | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0017048 | Rho GTPase binding |
| MF | IPI | GO:0044325 | ion channel binding |
| BP | IMP | GO:0007010 | cytoskeleton organization |
| BP | IEA | GO:0007605 | sensory perception of sound |
| BP | IMP | GO:0008360 | regulation of cell shape |
| BP | IEA | GO:0030041 | actin filament polymerization |
| BP | IEA | GO:0030335 | positive regulation of cell migration |
| BP | IMP | GO:0032886 | regulation of microtubule-based process |
| BP | IMP | GO:0035372 | protein localization to microtubule |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IMP | GO:0051279 | regulation of release of sequestered calcium ion into cytosol |
| BP | IMP | GO:0051493 | regulation of cytoskeleton organization |
| BP | IMP | GO:0071420 | cellular response to histamine |
| BP | TAS | GO:2000145 | regulation of cell motility |
| CC | IEA | GO:0005815 | microtubule organizing center |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0030667 | secretory granule membrane |
| CC | IEA | GO:0032587 | ruffle membrane |
| CC | IDA | GO:0072686 | mitotic spindle |
| CC | TAS | GO:0101003 | ficolin-1-rich granule membrane |
Gene expression in normal tissue: DIAPH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DIAPH1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2038 | Regulation of Microtubule Cytoskeleton |
| wikipathways | WP2324 | AGE-RAGE pathway |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP4241 | Type 2 papillary renal cell carcinoma |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
| wikipathways | WP524 | G13 Signaling Pathway |
| pid | ecadherin_stabilization_pathway | Stabilization and expansion of the E-cadherin adherens junction |
| pid | ilk_pathway | Integrin-linked kinase signaling |
| pid | rhoa_pathway | RhoA signaling pathway |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| netpath | Pathway_TCR | TCR |
| biocarta | ecmpathway | erk and pi-3 kinase are necessary for collagen binding in corneal epithelia |
| biocarta | malpathway | role of mal in rho-mediated activation of srf |
| biocarta | rhopathway | rho cell motility signaling pathway |
| reactome | R-HSA-1227986 | Signaling by ERBB2 |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-5663220 | RHO GTPases Activate Formins |
| reactome | R-HSA-6785631 | ERBB2 Regulates Cell Motility |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DIAPH1
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