QuickView for DIAPH1 (gene)

Gene Symbol:

DIAPH1 Homo sapiens

Full name:

diaphanous related formin 1

Synonyms:

DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, protein diaphanous homolog 1

Genomic Location:

Chr 5: 140874772-140978747

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GABP_B ,  TGANTCA_AP1_C ,  DR3_Q4 ,  USF_Q6 ,  CACGTG_MYC_Q2 ,  NGFIC_01 ,  AP1_Q6 ,  MYCMAX_B ,  EGR2_01 ,  TGACCTY_ERR1_Q2 ,  GGGAGGRR_MAZ_Q6 ,  NFE2_01 ,  AP1_Q6_01 ,  TGCAAAC_MIR452 ,  CAGGTA_AREB6_01 ,  AP1FJ_Q2 ,  EGR_Q6 ,  TGCCTTA_MIR124A ,  MYCMAX_01 ,  ACCAAAG_MIR9 ,  CATRRAGC_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  AREB6_01 ,  TGCTGAY_UNKNOWN ,  MGGAAGTG_GABP_B ,  RAAGNYNNCTTY_UNKNOWN ,  POU1F1_Q6 ,  TAXCREB_02 ,  AP1_Q4 ,  RNGTGGGC_UNKNOWN ,  BACH1_01 ,  USF_Q6_01 ,  YGCGYRCGC_UNKNOWN ,  WGGAATGY_TEF1_Q6 ,  SCGGAAGY_ELK1_02 ,  TCCATTKW_UNKNOWN ,  ZF5_B ,  AACTTT_UNKNOWN ,  ERR1_Q2 ,  AGGAAGC_MIR5163P

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-33 ,  Predicted Gene Targets for miR-330 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-124u ,  Predicted Gene Targets for miR-452

Cytogenetic Map:

5q31.3

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