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Immunogen sequence: TEEKMRRAKL AKEKAEKERL EKQQKREQLI DMNAEGDETG VMDSLLEALQ SGAAFRRKRG PRQANRKAGC AVTSLLASEL TKDDAMAAVP AKVSKNSETF PTILEEAKEL VGRAS; Positive Samples: HL-60, MCF7, 293T, HepG2, Mouse liver, Mouse lung; Cellular Location: Cell membrane, Cell projection, Cytoplasm, cytoskeleton, ruffle membrane
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency 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.
Protein Aliases: diaphanous 1; diaphanous-1; diaphanous-related formin 1; Diaphanous-related formin-1; DRF1; FLJ25265; mDIA1; p140DIA; p140mDIA; Protein diaphanous homolog 1
Gene Aliases: D18Wsu154e; DFNA1; DIA1; DIAP1; DIAPH1; DRF1; hDIA1; LFHL1; p140mDia; SCBMS