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diaphanous related formin 1
Summary
- Gene Symbol
-
- DIAPH1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Actin-binding
- Alternative splicing
- Cell membrane
- Cell projection
- Coiled coil
- Cytoskeleton
- Direct protein sequencing
- Disease variant
- Epilepsy
- Hearing
- Non-syndromic deafness
- Nucleus
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Proteins
| UniProt | Protein Name |
|---|---|
| Q6URC4 |
|
| A0A2R8Y5N1 |
|
| O60610 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoskeleton organization | ||
| cytoskeleton organization | ||
| sensory perception of sound | ||
| regulation of cell shape | ||
| actin cytoskeleton organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| cytoplasm | ||
| centrosome | ||
| cytosol | ||
| actin filament |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| RNA binding | ||
| actin binding | ||
| signaling receptor binding | ||
| protein binding | ||
| small GTPase binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- diaphanous
- Functional Category
-
- E: Amino acid transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
- O: Posttranslational modification, protein turnover, chaperones
| Gene Ontology |
|---|
| actin binding |
| actin cytoskeleton organization |
| actin filament polymerization |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110541 | autosomal dominant nonsyndromic deafness 1 | |
| DOID:10003 | sensorineural hearing loss |
