Property Summary

NCBI Gene PubMed Count 59
Grant Count 95
R01 Count 68
Funding $11,263,013.28
PubMed Score 50.22
PubTator Score 52.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.300 0.000
psoriasis 1.700 0.000
osteosarcoma 2.097 0.000
acute quadriplegic myopathy 1.269 0.000
colon cancer 1.200 0.001
lung carcinoma -1.400 0.000
spina bifida -1.054 0.045
ovarian cancer 1.200 0.000

Synonym

Accession O60610 A6NF18 B7ZKW2 E9PEZ2 Q17RN4 Q59FH8 Q9UC76
Symbols DIA1
DRF1
DFNA1
LFHL1
SCBMS
hDIA1

Gene

Gene RIF (45)

PMID Text
26566078 mDia1 displaced from the barbed end by CapZ Actin Capping Protein can randomly slide along the actin filament and later return.
26564775 Capping protein and dia1 functionally coregulate filament barbed-end assembly.
26463574 Loss-of-function variants in DIAPH1 is associated with syndromic microcephaly, blindness, and early onset seizures.
26349808 functional complementation experiments and optogenetics to show that mDia1 cooperates with the Arp2/3 complex in initiating lamellipodia and ruffles.
26201082 The Rho-mDia1 signaling pathway is involved in the cytoskeletal rearrangement of human periodontal ligament cells induced by cyclic strain.
26124177 Data indicate that diaphanous homolog 1 (Drosophila) protein (DIAPH1) stabilizes microtubules and reduces microtubule dynamics.
25298036 DIAPH1 has a critical role in generating F-actin structures and assisting the microtubule stabilization underlying proplatelet formation and platelet production
24950964 the RhoA-regulated formin Dia1 is involved in entosis downstream of LPAR2
24891322 Mechanistically, mDia1 deficiency led to a downregulation of membrane-associated genes and a specific upregulation of CD14 messenger RNA in granulocytes, but not in other lineages.
24781755 Patients with a homozygous nonsense DIAPH1 alteration (p.Gln778*) have MCP as well as reduced height and weight.
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AA Sequence

MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRN      1 - 70
SSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKE     71 - 140
SSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYD    141 - 210
SRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVL    211 - 280
EAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDL    281 - 350
REIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV    351 - 420
RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDS    421 - 490
ELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKK    491 - 560
EMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSP    561 - 630
PSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGI    631 - 700
PPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPK    701 - 770
KLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS    771 - 840
VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSEL    841 - 910
KDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEIT    911 - 980
LLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRV    981 - 1050
SAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGE   1051 - 1120
YFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMN   1121 - 1190
AEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI   1191 - 1260
LEEAKELVGRAS                                                             1261 - 1272
//

Text Mined References (71)

PMID Year Title
27707755 2016 Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
26566078 2015 Single-molecule visualization of a formin-capping protein 'decision complex' at the actin filament barbed end.
26564775 2015 Formin and capping protein together embrace the actin filament in a ménage à trois.
26463574 2016 Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26349808 2015 Initiation of lamellipodia and ruffles involves cooperation between mDia1 and the Arp2/3 complex.
26201082 2015 The Rho-mDia1 signaling pathway is required for cyclic strain-induced cytoskeletal rearrangement of human periodontal ligament cells.
26124177 2015 Drosophila homologue of Diaphanous 1 (DIAPH1) controls the metastatic potential of colon cancer cells by regulating microtubule-dependent adhesion.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25298036 2014 The formin DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons.
24950964 2014 G-protein-coupled receptor signaling and polarized actin dynamics drive cell-in-cell invasion.
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