DIAPH1

Diaphanous-related formin 1

PDB rendering based on 1v9d.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DIAPH1 ; DFNA1; DIA1; DRF1; LFHL1; hDIA1
External IDs OMIM: 602121 MGI: 1194490 HomoloGene: 129567 GeneCards: DIAPH1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 1729 13367
Ensembl ENSG00000131504 ENSMUSG00000024456
UniProt O60610 O08808
RefSeq (mRNA) NM_001079812 NM_001305980
RefSeq (protein) NP_001073280 NP_001292909
Location (UCSC) Chr 5:
141.52 – 141.62 Mb
Chr 18:
37.84 – 37.94 Mb
PubMed search

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.[1][2][3]

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 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.[3]

Interactions

DIAPH1 has been shown to interact with RHOA.[4]

See also

References

  1. Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science 278 (5341): 1315–8. doi:10.1126/science.278.5341.1315. PMID 9360932.
  2. Leon PE, Raventos H, Lynch E, Morrow J, King MC (Jun 1992). "The gene for an inherited form of deafness maps to chromosome 5q31". Proc. Natl. Acad. Sci. U.S.A. 89 (11): 5181–4. doi:10.1073/pnas.89.11.5181. PMC 49253. PMID 1350680.
  3. 1 2 "Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)".
  4. Riento K, Guasch RM, Garg R, Jin B, Ridley AJ (Jun 2003). "RhoE binds to ROCK I and inhibits downstream signaling". Mol. Cell. Biol. 23 (12): 4219–29. doi:10.1128/MCB.23.12.4219-4229.2003. PMC 156133. PMID 12773565.

Further reading

External links


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