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DIAPH1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1V9D, 1Z2C, 2BAP, 2BNX, 2F31, 2V8F, 3EG5, 3O4X, 3OBV, 4UWX
Identifiers
Aliases	DIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1, mDia1
External IDs	OMIM: 602121; MGI: 1194490; HomoloGene: 129567; GeneCards: DIAPH1; OMA:DIAPH1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	141,619,055 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	38,068,529 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; monocyte; ; Achilles tendon; ; right lobe of liver; ; gastrocnemius muscle; ; skin of leg; ; right lung; ; upper lobe of left lung; ; blood; ; amniotic fluid;
	Top expressed in
	granulocyte; ; ankle; ; conjunctival fornix; ; transitional epithelium of urinary bladder; ; blood; ; vestibular membrane of cochlear duct; ; muscle of thigh; ; knee joint; ; Rostral migratory stream; ; soleus muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transmembrane transporter binding; protein binding; actin binding; signaling receptor binding; RNA binding;
Cellular component	cytoplasm; cytosol; cell projection; membrane; spindle; microtubule organizing center; ruffle membrane; mitotic spindle; cytoskeleton; plasma membrane; secretory granule membrane; ficolin-1-rich granule membrane; nucleus;
Biological process	actin filament organization; positive regulation of cell migration; regulation of release of sequestered calcium ion into cytosol; hearing; actin filament polymerization; regulation of microtubule-based process; protein localization to microtubule; cytoskeleton organization; regulation of cell shape; cellular component organization; actin cytoskeleton organization; cellular response to histamine; regulation of cell motility; neutrophil degranulation; regulation of cytoskeleton organization;
	Sources:Amigo / QuickGO
Orthologs
	1729
	13367
	ENSG00000131504
	ENSMUSG00000024456
	O60610
	O08808
	NM_001314007; NM_001079812; NM_005219
	NM_007858; NM_001305980; NM_001305981
	NP_001073280; NP_001300936; NP_005210
	NP_001292909; NP_001292910; NP_031884
	Wikidata
View/Edit Human	View/Edit Mouse

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.^[5]^[6]^[7]

Function

This gene is a homolog of the Drosophila diaphanous gene and belongs to the protein family of the formins, characterized by the formin homology 2 (FH2) domain. It has been linked to autosomal dominant, fully penetrant, nonsyndromic low-frequency progressive sensorineural 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.^[7]