InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DIAPH1

Summary

InnateDB Protein

IDBP-232742.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DIAPH1

Protein Name

diaphanous homolog 1 (Drosophila)

Synonyms

DFNA1; DIA1; DRF1; hDIA1; LFHL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000381565

InnateDB Gene

IDBG-50631 (DIAPH1)

Protein Structure

UniProt Annotation

Function

Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA- DIAPH1 signaling pathway plays an important role in ERBB2- dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000250, ECO:0000269PubMed:20937854, ECO:0000269PubMed:21834987}.

Subcellular Localization

Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells.

Disease Associations

Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.

Experimentally validated
Total	41 [view]
Protein-Protein	41 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	17 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003779	actin binding
GO:0005102	receptor binding
GO:0005488	binding
GO:0005515	protein binding
GO:0005522	profilin binding
GO:0017048	Rho GTPase binding
GO:0044325	ion channel binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0007010	cytoskeleton organization
GO:0007605	sensory perception of sound
GO:0008360	regulation of cell shape
GO:0016043	cellular component organization
GO:0030036	actin cytoskeleton organization
GO:0030041	actin filament polymerization
GO:0030335	positive regulation of cell migration
GO:0032886	regulation of microtubule-based process
GO:0035372	protein localization to microtubule
GO:0051279	regulation of release of sequestered calcium ion into cytosol
GO:0071420	cellular response to histamine

Cellular Component

GO:0005737	cytoplasm
GO:0032587	ruffle membrane
GO:0072686	mitotic spindle

Protein Structure and Domains

PDB ID

InterPro

IPR009408 Formin Homology 1
IPR010465 DRF autoregulatory
IPR010472 Formin, FH3 domain
IPR010473 Formin, GTPase-binding domain
IPR010978 tRNA-binding arm
IPR015425 Formin, FH2 domain
IPR016024 Armadillo-type fold

PFAM

PF06346
PF06345
PF06367
PF06371
PF02181

PRINTS

PIRSF

SMART

SM00498

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O60610