DIAPH1

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DIAPH1
Protein DIAPH1 PDB 1v9d.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases DIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1
External IDs MGI: 1194490 HomoloGene: 129567 GeneCards: DIAPH1
RNA expression pattern
PBB GE DIAPH1 215541 s at fs.png

PBB GE DIAPH1 209190 s at fs.png

PBB GE DIAPH1 213514 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001314007
NM_001079812
NM_005219

NM_007858
NM_001305980
NM_001305981

RefSeq (protein)

NP_001073280
NP_001300936
NP_005210

NP_031884.1
NP_001292909
NP_001292910
NP_031884

Location (UCSC) Chr 5: 141.52 – 141.62 Mb Chr 18: 37.84 – 37.94 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.[3][4][5]

Function[edit]

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.[5]

Interactions[edit]

DIAPH1 has been shown to interact with RHOA.[6]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 49253Freely accessible. PMID 1350680. 
  5. ^ a b "Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)". 
  6. ^ 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 156133Freely accessible. PMID 12773565. 

Further reading[edit]

External links[edit]