InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DIAPH3

Summary

InnateDB Protein

IDBP-228493.7

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

ENSP00000383174

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.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005488	binding
GO:0017048	Rho GTPase binding

Biological Process

GO:0016043	cellular component organization
GO:0030036	actin cytoskeleton organization

Cellular Component

GO:0005829

cytosol

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

PFAM

PF06345
PF06367
PF06371
PF02181

PRINTS

PIRSF

SMART

SM00498

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NSV4