Homo sapiens Protein: DIAPH3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-36435.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DIAPH3 | ||||||||||||||||||||||
Protein Name | diaphanous homolog 3 (Drosophila) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000267215 | ||||||||||||||||||||||
InnateDB Gene | IDBG-36429 (DIAPH3) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytosol {ECO:0000269PubMed:18755006, ECO:0000269PubMed:19457867}. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis. | ||||||||||||||||||||||
Disease Associations | Auditory neuropathy, autosomal dominant, 1 (AUNA1) [MIM:609129]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. {ECO:0000269PubMed:20624953}. Note=The disease is caused by mutations affecting the gene represented in this entry. A disease- causing mutation in the conserved 5'-UTR leads to increased protein expression (PubMed:20624953). {ECO:0000269PubMed:20624953}. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR010465
DRF autoregulatory IPR010472 Formin, FH3 domain IPR010473 Formin, GTPase-binding domain IPR015425 Formin, FH2 domain IPR016024 Armadillo-type fold |
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PFAM |
PF06345
PF06367 PF06371 PF02181 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00498
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9NSV4 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9NSV4 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 81624 | ||||||||||||||||||||||
UniGene | Hs.695151 | ||||||||||||||||||||||
RefSeq | NP_001245298 | ||||||||||||||||||||||
HUGO | HGNC:15480 | ||||||||||||||||||||||
OMIM | 614567 | ||||||||||||||||||||||
CCDS | CCDS58297 | ||||||||||||||||||||||
HPRD | 10884 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB244756 AB244757 AB244758 AK092024 AL137718 AL354829 AL356502 AL359266 AL390878 AY750055 AY818645 BC034952 BC048963 BC068504 BX649186 | ||||||||||||||||||||||
GenPept | AAH34952 AAH48963 AAH68504 AAW73254 AAW78862 BAC03793 BAE96350 BAE96351 BAE96352 CAB70890 CAE46204 CAI14102 CAI14158 CAI39756 CAI39757 CAM14265 CAM14266 CAM14267 CAM15403 CAM15404 CAM15405 CAM15406 CAM19398 CAM19399 CAM19400 CAM19401 CAM19738 CAM19739 CAM19740 CAM19741 | ||||||||||||||||||||||