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{{Infobox_gene}}
{{PBB_Controls
'''Protein diaphanous homolog 1''' is a [[protein]] that in humans is encoded by the ''DIAPH1'' [[gene]].<ref name="pmid9360932">{{cite journal | vauthors = Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC | title = Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous | journal = Science | volume = 278 | issue = 5341 | pages = 1315–8 | date = November 1997 | pmid = 9360932 | pmc =  | doi = 10.1126/science.278.5341.1315 }}</ref><ref name="pmid1350680">{{cite journal | vauthors = Leon PE, Raventos H, Lynch E, Morrow J, King MC | title = The gene for an inherited form of deafness maps to chromosome 5q31 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 11 | pages = 5181–4 | date = June 1992 | pmid = 1350680 | pmc = 49253 | doi = 10.1073/pnas.89.11.5181 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1729| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_DIAPH1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1v9d.
| PDB = {{PDB2|1v9d}}, {{PDB2|1z2c}}, {{PDB2|2bap}}, {{PDB2|2bnx}}, {{PDB2|2f31}}
| Name = Diaphanous homolog 1 (Drosophila)
| HGNCid = 2876
| Symbol = DIAPH1
| AltSymbols =; DFNA1; DRF1; FLJ25265; LFHL1; hDIA1
| OMIM = 602121
| ECnumber = 
| Homologene = 55880
| MGIid = 1194490
| GeneAtlas_image1 = PBB_GE_DIAPH1_209190_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_DIAPH1_213514_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_DIAPH1_215541_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005102 |text = receptor binding}} {{GNF_GO|id=GO:0005522 |text = profilin binding}} {{GNF_GO|id=GO:0017048 |text = Rho GTPase binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}}
| Process = {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0016043 |text = cellular component organization and biogenesis}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0030041 |text = actin filament polymerization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1729
    | Hs_Ensembl = ENSG00000131504
    | Hs_RefseqProtein = NP_001073280
    | Hs_RefseqmRNA = NM_001079812
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 140875174
    | Hs_GenLoc_end = 140978747
    | Hs_Uniprot = O60610
    | Mm_EntrezGene = 13367
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_007858
    | Mm_RefseqProtein = NP_031884
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Diaphanous homolog 1 (Drosophila)''', also known as '''DIAPH1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1729| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene is a homolog of the Drosophila diaphanous gene and belongs to the protein family of the [[formin]]s, 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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1729| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
DIAPH1 has been shown to [[Protein-protein interaction|interact]] with [[RHOA]].<ref name=pmid12773565>{{cite journal | vauthors = Riento K, Guasch RM, Garg R, Jin B, Ridley AJ | title = RhoE binds to ROCK I and inhibits downstream signaling | journal = Molecular and Cellular Biology | volume = 23 | issue = 12 | pages = 4219–29 | date = June 2003 | pmid = 12773565 | pmc = 156133 | doi = 10.1128/MCB.23.12.4219-4229.2003 }}</ref>
 
==Clinical significance==
 
Mutations in this gene have been associated with [[wikt:macrothrombocytopenia|macrothrombocytopenia]] and hearing loss,<ref name=Stritt2016>{{cite journal | vauthors = Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD | display-authors = 6 | title = A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss | journal = Blood | volume = 127 | issue = 23 | pages = 2903–14 | date = June 2016 | pmid = 26912466 | doi = 10.1182/blood-2015-10-675629 }}</ref>  [[microcephaly]], blindness, and early onset seizures<ref name=Al-Maawali2016>{{cite journal | vauthors = Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM | display-authors = 6 | title = Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures | journal = American Journal of Medical Genetics. Part A | volume = 170A | issue = 2 | pages = 435–40 | date = February 2016 | pmid = 26463574 | pmc = 5315085 | doi = 10.1002/ajmg.a.37422 }}</ref>
 
Its actions on [[platlet]] formation appear to occur at the level of the [[megakaryocyte]] where it is involved in [[cytoskeleton]] formation.<ref name=Pan2014>{{cite journal | vauthors = Pan J, Lordier L, Meyran D, Rameau P, Lecluse Y, Kitchen-Goosen S, Badirou I, Mokrani H, Narumiya S, Alberts AS, Vainchenker W, Chang Y | display-authors = 6 | title = The formin DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons | journal = Blood | volume = 124 | issue = 26 | pages = 3967–77 | year = 2014 | pmid = 25298036 | doi = 10.1182/blood-2013-12-544924 }}</ref>
 
== See also ==
* [[mDia1]]
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Reinhard M, Giehl K, Abel K, Haffner C, Jarchau T, Hoppe V, Jockusch BM, Walter U | title = The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins | journal = The EMBO Journal | volume = 14 | issue = 8 | pages = 1583–9 | date = April 1995 | pmid = 7737110 | pmc = 398250 | doi =  }}
| citations =
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = April 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
*{{cite journal | author=Leon PE, Raventos H, Lynch E, ''et al.'' |title=The gene for an inherited form of deafness maps to chromosome 5q31. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 11 |pages= 5181-4 |year= 1992 |pmid= 1350680 |doi=  }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = April 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal  | author=Reinhard M, Giehl K, Abel K, ''et al.'' |title=The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins. |journal=EMBO J. |volume=14 |issue= 8 |pages= 1583-9 |year= 1995 |pmid= 7737110 |doi=  }}
* {{cite journal | vauthors = Fujiwara T, Mammoto A, Kim Y, Takai Y | title = Rho small G-protein-dependent binding of mDia to an Src homology 3 domain-containing IRSp53/BAIAP2 | journal = Biochemical and Biophysical Research Communications | volume = 271 | issue = 3 | pages = 626–9 | date = May 2000 | pmid = 10814512 | doi = 10.1006/bbrc.2000.2671 }}
*{{cite journal | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
* {{cite journal | vauthors = Kato T, Watanabe N, Morishima Y, Fujita A, Ishizaki T, Narumiya S | title = Localization of a mammalian homolog of diaphanous, mDia1, to the mitotic spindle in HeLa cells | journal = Journal of Cell Science | volume = 114 | issue = Pt 4 | pages = 775–84 | date = February 2001 | pmid = 11171383 | doi =  }}
*{{cite journal | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi= }}
* {{cite journal | vauthors = Westendorf JJ | title = The formin/diaphanous-related protein, FHOS, interacts with Rac1 and activates transcription from the serum response element | journal = The Journal of Biological Chemistry | volume = 276 | issue = 49 | pages = 46453–9 | date = December 2001 | pmid = 11590143 | doi = 10.1074/jbc.M105162200 }}
*{{cite journal  | author=Lynch ED, Lee MK, Morrow JE, ''et al.'' |title=Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. |journal=Science |volume=278 |issue= 5341 |pages= 1315-8 |year= 1997 |pmid= 9360932 |doi=  }}
* {{cite journal | vauthors = Sahai E, Marshall CJ | title = ROCK and Dia have opposing effects on adherens junctions downstream of Rho | journal = Nature Cell Biology | volume = 4 | issue = 6 | pages = 408–15 | date = June 2002 | pmid = 11992112 | doi = 10.1038/ncb796 }}
*{{cite journal | author=Fujiwara T, Mammoto A, Kim Y, Takai Y |title=Rho small G-protein-dependent binding of mDia to an Src homology 3 domain-containing IRSp53/BAIAP2. |journal=Biochem. Biophys. Res. Commun. |volume=271 |issue= 3 |pages= 626-9 |year= 2000 |pmid= 10814512 |doi= 10.1006/bbrc.2000.2671 }}
* {{cite journal | vauthors = Montagnoli A, Bosotti R, Villa F, Rialland M, Brotherton D, Mercurio C, Berthelsen J, Santocanale C | title = Drf1, a novel regulatory subunit for human Cdc7 kinase | journal = The EMBO Journal | volume = 21 | issue = 12 | pages = 3171–81 | date = June 2002 | pmid = 12065429 | pmc = 126049 | doi = 10.1093/emboj/cdf290 }}
*{{cite journal | author=Kato T, Watanabe N, Morishima Y, ''et al.'' |title=Localization of a mammalian homolog of diaphanous, mDia1, to the mitotic spindle in HeLa cells. |journal=J. Cell. Sci. |volume=114 |issue= Pt 4 |pages= 775-84 |year= 2001 |pmid= 11171383 |doi=  }}
* {{cite journal | vauthors = Tominaga T, Meng W, Togashi K, Urano H, Alberts AS, Tominaga M | title = The Rho GTPase effector protein, mDia, inhibits the DNA binding ability of the transcription factor Pax6 and changes the pattern of neurite extension in cerebellar granule cells through its binding to Pax6 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 49 | pages = 47686–91 | date = December 2002 | pmid = 12324464 | doi = 10.1074/jbc.M207539200 }}
*{{cite journal | author=Westendorf JJ |title=The formin/diaphanous-related protein, FHOS, interacts with Rac1 and activates transcription from the serum response element. |journal=J. Biol. Chem. |volume=276 |issue= 49 |pages= 46453-9 |year= 2002 |pmid= 11590143 |doi= 10.1074/jbc.M105162200 }}
* {{cite journal | vauthors = Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J | title = Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides | journal = Nature Biotechnology | volume = 21 | issue = 5 | pages = 566–9 | date = May 2003 | pmid = 12665801 | doi = 10.1038/nbt810 }}
*{{cite journal | author=Sahai E, Marshall CJ |title=ROCK and Dia have opposing effects on adherens junctions downstream of Rho. |journal=Nat. Cell Biol. |volume=4 |issue= 6 |pages= 408-15 |year= 2002 |pmid= 11992112 |doi= 10.1038/ncb796 }}
* {{cite journal | vauthors = Vicente-Manzanares M, Rey M, Pérez-Martínez M, Yáñez-Mó M, Sancho D, Cabrero JR, Barreiro O, de la Fuente H, Itoh K, Sánchez-Madrid F | title = The RhoA effector mDia is induced during T cell activation and regulates actin polymerization and cell migration in T lymphocytes | journal = Journal of Immunology | volume = 171 | issue = 2 | pages = 1023–34 | date = July 2003 | pmid = 12847276 | doi = 10.4049/jimmunol.171.2.1023 }}
*{{cite journal | author=Montagnoli A, Bosotti R, Villa F, ''et al.'' |title=Drf1, a novel regulatory subunit for human Cdc7 kinase. |journal=EMBO J. |volume=21 |issue= 12 |pages= 3171-81 |year= 2002 |pmid= 12065429 |doi= 10.1093/emboj/cdf290 }}
* {{cite journal | vauthors = Stüven T, Hartmann E, Görlich D | title = Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes | journal = The EMBO Journal | volume = 22 | issue = 21 | pages = 5928–40 | date = November 2003 | pmid = 14592989 | pmc = 275422 | doi = 10.1093/emboj/cdg565 }}
*{{cite journal | author=Tominaga T, Meng W, Togashi K, ''et al.'' |title=The Rho GTPase effector protein, mDia, inhibits the DNA binding ability of the transcription factor Pax6 and changes the pattern of neurite extension in cerebellar granule cells through its binding to Pax6. |journal=J. Biol. Chem. |volume=277 |issue= 49 |pages= 47686-91 |year= 2003 |pmid= 12324464 |doi= 10.1074/jbc.M207539200 }}
* {{cite journal | vauthors = Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S | title = Cdc42 and mDia3 regulate microtubule attachment to kinetochores | journal = Nature | volume = 428 | issue = 6984 | pages = 767–71 | date = April 2004 | pmid = 15085137 | doi = 10.1038/nature02452 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Mammoto A, Huang S, Moore K, Oh P, Ingber DE | title = Role of RhoA, mDia, and ROCK in cell shape-dependent control of the Skp2-p27kip1 pathway and the G1/S transition | journal = The Journal of Biological Chemistry | volume = 279 | issue = 25 | pages = 26323–30 | date = June 2004 | pmid = 15096506 | doi = 10.1074/jbc.M402725200 }}
*{{cite journal  | author=Gevaert K, Goethals M, Martens L, ''et al.'' |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566-9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
* {{cite journal | vauthors = Rundle DR, Gorbsky G, Tsiokas L | title = PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles | journal = The Journal of Biological Chemistry | volume = 279 | issue = 28 | pages = 29728–39 | date = July 2004 | pmid = 15123714 | doi = 10.1074/jbc.M400544200 }}
*{{cite journal | author=Vicente-Manzanares M, Rey M, Pérez-Martínez M, ''et al.'' |title=The RhoA effector mDia is induced during T cell activation and regulates actin polymerization and cell migration in T lymphocytes. |journal=J. Immunol. |volume=171 |issue= 2 |pages= 1023-34 |year= 2003 |pmid= 12847276 |doi= }}
* {{cite journal | vauthors = Carreira S, Goodall J, Denat L, Rodriguez M, Nuciforo P, Hoek KS, Testori A, Larue L, Goding CR | title = Mitf regulation of Dia1 controls melanoma proliferation and invasiveness | journal = Genes & Development | volume = 20 | issue = 24 | pages = 3426–39 | date = December 2006 | pmid = 17182868 | pmc = 1698449 | doi = 10.1101/gad.406406 }}
*{{cite journal | author=Stüven T, Hartmann E, Görlich D |title=Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes. |journal=EMBO J. |volume=22 |issue= 21 |pages= 5928-40 |year= 2003 |pmid= 14592989 |doi= 10.1093/emboj/cdg565 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Yasuda S, Oceguera-Yanez F, Kato T, ''et al.'' |title=Cdc42 and mDia3 regulate microtubule attachment to kinetochores. |journal=Nature |volume=428 |issue= 6984 |pages= 767-71 |year= 2004 |pmid= 15085137 |doi= 10.1038/nature02452 }}
*{{cite journal | author=Mammoto A, Huang S, Moore K, ''et al.'' |title=Role of RhoA, mDia, and ROCK in cell shape-dependent control of the Skp2-p27kip1 pathway and the G1/S transition. |journal=J. Biol. Chem. |volume=279 |issue= 25 |pages= 26323-30 |year= 2004 |pmid= 15096506 |doi= 10.1074/jbc.M402725200 }}
*{{cite journal | author=Rundle DR, Gorbsky G, Tsiokas L |title=PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles. |journal=J. Biol. Chem. |volume=279 |issue= 28 |pages= 29728-39 |year= 2004 |pmid= 15123714 |doi= 10.1074/jbc.M400544200 }}
*{{cite journal | author=Carreira S, Goodall J, Denat L, ''et al.'' |title=Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. |journal=Genes Dev. |volume=20 |issue= 24 |pages= 3426-39 |year= 2007 |pmid= 17182868 |doi= 10.1101/gad.406406 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1434/  GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview]
*[http://cmkb.cellmigration.org/report.cgi?report=orth_overview&orth_acc=co00004683 DIAPH1] Info with links in the [http://www.cellmigration.org/index.shtml Cell Migration Gateway]
{{PDB Gallery|geneid=1729}}
 
{{gene-5-stub}}

Revision as of 18:27, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]

Clinical significance

Mutations in this gene have been associated with macrothrombocytopenia and hearing loss,[5] microcephaly, blindness, and early onset seizures[6]

Its actions on platlet formation appear to occur at the level of the megakaryocyte where it is involved in cytoskeleton formation.[7]

See also

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: DIAPH1 diaphanous homolog 1 (Drosophila)".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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

External links

Retrieved from "https://www.wikidoc.org/index.php?title=DIAPH1&oldid=1420715"