DIAPH1

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

DIAPH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1
External IDsOMIM: 602121 MGI: 1194490 HomoloGene: 129567 GeneCards: DIAPH1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q31.3Start141,515,016 bp[1]
End141,619,055 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 18: 37.84 – 37.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. GRCh38: Ensembl release 89: ENSG00000131504 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024456 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (November 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.
  6. Leon PE, Raventos H, Lynch E, Morrow J, King MC (June 1992). "The gene for an inherited form of deafness maps to chromosome 5q31". Proceedings of the National Academy of Sciences of the United States of America. 89 (11): 5181–4. doi:10.1073/pnas.89.11.5181. PMC 49253. PMID 1350680.
  7. "Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)".
  8. Riento K, Guasch RM, Garg R, Jin B, Ridley AJ (June 2003). "RhoE binds to ROCK I and inhibits downstream signaling". Molecular and Cellular Biology. 23 (12): 4219–29. doi:10.1128/MCB.23.12.4219-4229.2003. PMC 156133. PMID 12773565.
  9. Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, et al. (June 2016). "A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss". Blood. 127 (23): 2903–14. doi:10.1182/blood-2015-10-675629. PMID 26912466.
  10. Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, et al. (February 2016). "Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures". American Journal of Medical Genetics. Part A. 170A (2): 435–40. doi:10.1002/ajmg.a.37422. PMC 5315085. PMID 26463574.
  11. Pan J, Lordier L, Meyran D, Rameau P, Lecluse Y, Kitchen-Goosen S, et al. (2014). "The formin DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons". Blood. 124 (26): 3967–77. doi:10.1182/blood-2013-12-544924. PMID 25298036.

Further reading

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