DIAPH1

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

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)[1] Band 5q31.3 Start 141,515,016 bp[1] End 141,619,055 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 B3|18 19.71 cM Start 37,976,654 bp[2] End 38,068,529 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1729 13367 Ensembl ENSG00000131504 ENSMUSG00000024456 UniProt O60610 O08808 RefSeq (mRNA) NM_001314007 NM_001079812 NM_005219 NM_007858 NM_001305980 NM_001305981 RefSeq (protein) NP_001073280 NP_001300936 NP_005210 NP_001292909 NP_001292910 NP_031884 Location (UCSC) Chr 5: 141.52 – 141.62 Mb Chr 18: 37.98 – 38.07 Mb PubMed search [3] [4]
Wikidata
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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]

Interactions

DIAPH1 has been shown to interact with RHOA.^[8]

Clinical significance

Mutations in this gene have been associated with macrothrombocytopenia and hearing loss,^[9] microcephaly, blindness, and early onset seizures^[10]

Its actions on platelet formation appear to occur at the level of the megakaryocyte where it is involved in cytoskeleton formation.^[11]

See also

• mDia1