DIAPH1

  • Official Full Name

    diaphanous homolog 1 (Drosophila)
  • Overview

    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.
  • Synonyms

    DIAPH1;diaphanous homolog 1 (Drosophila);DFNA1, diaphanous (Drosophila, homolog) 1;protein diaphanous homolog 1;hDIA1;LFHL1;FLJ25265;Deafness autosomal dominant 1;deafness, autosomal dominant 1;DFNA1;DIAP1;DIAP1_HUMAN;diaphanous homolog 1;Diaphanous protein homolog 1;Diaphanous related formin 1;Diaphanous-related formin-1;DRF1;low frequency hearing loss 1;p140DIA;OTTHUMP00000195047;OTTHUMP00000195048;OTTHUMP00000195049;OTTHUMP00000224777;diaphanous-related formin 1;DIA1

Recombinant Proteins

  • Human
  • Chicken
  • Mouse
  • Wheat Germ
  • Mammalian Cells
  • HEK293
  • E.coli
  • GST
  • His
  • Non
  • DDK
  • Myc
  • Flag
  • Avi
  • Fc

    Involved Pathway

    DIAPH1 involved in several pathways and played different roles in them. We selected most pathways DIAPH1 participated on our site, such as AGE/RAGE pathway,Focal adhesion,G13 Signaling Pathway, which may be useful for your reference. Also, other proteins which involved in the same pathway with DIAPH1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

    Pathway Name Pathway Related Protein
    Regulation of Actin Cytoskeleton VCLA,MAP2K2,PIK3R3,PTK2,MSNB,ABI2A,PAK2A,FGF20B,APC,ACTB2
    Shigellosis ELMO1,ITGA5,MAPK12,FBXW11,WASL,ATG5,CDC42,U2AF1L4,ELMO2,IKBKG
    RHO GTPases Activate Formins CCDC99,EVL,NDEL1A,SPC25,SKA1,ZW10,RHOC,FMNL2,RHOAE,MKL1
    Focal adhesion KDR,RAC3A,SHC1,VAV1,PDPK1,AKT2,CCND2A,ITGAV,PIK3R3A,BRAF
    RHO GTPase Effectors ZWINT,PMF1,RANGAP1B,RHPN1,ZWILCH,CLIP1,KIF14,EVL,RCC2,KDM4C
    AGE/RAGE pathway TIRAP,JAK2,LGALS3,CHUK,MMP13,MAPK14,JUN,EGFR,ATF2,DDOST
    RhoA signaling pathway ACTA1,CYR61,MKL1
    G13 Signaling Pathway CIT,RTKN,SH3RF1,GNA13,RHPN2,CFL2,MYBPH,ARHGEF1A,TNK2,MYL1

    Protein Function

    DIAPH1 has several biochemical functions, for example, Rho GTPase binding,actin binding,identical protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by DIAPH1 itself. We selected most functions DIAPH1 had, and list some proteins which have the same functions with DIAPH1. You can find most of the proteins on our site.

    Function Related Protein
    protein binding WHSC1L1,RFPL4,CCDC64B,MLH3,C19orf40,PRDM13,EIF4A2,STOX1,ADAMTS10,GNPDA2
    ion channel binding RYR2,TRPC1,CALM,LYN,CDH5,ACTN4,PKP2,KCNE1L,ABCC9,KCNIP1
    identical protein binding CLDN2,GOT2,THG1L,PUF60,GBP1,PCM1,C10orf88,FHL2,TRIP10,KCTD17
    receptor binding FGF8A,ADCYAP1,NCR3,AGRP2,ADM,FGF18B,DDO,NOS2,GDNF,ADAM10
    Rho GTPase binding ROCK2A,ROCK2B,ROCK2,PARD6A,DIAP3,KIF3B,ECT2,RHOH,DOCK9,CSDA
    poly(A) RNA binding C14orf21,LIN28B,NIP7,RPLP0,PSIP1,EZR,PABPC4,MRPS15,GNL3,TES
    profilin binding HTT,DIAP1,FMNL1,CYFIP1,WIPF1,CTTN,VASP,PCLO,RHOQ,EVL
    actin binding MPRIP,ACTN4,CLMN,EPB41L3,EVLB,C19orf21,KLHL4,EPB49,TMOD2,VPS16

    Interacting Protein

    DIAPH1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with DIAPH1 here. Most of them are supplied by our site. Hope this information will be useful for your research of DIAPH1.

    RHOA;AGER;PPM1F;PKD2;ORF;RHOD;RHOC;RHOB;RHOF;GAS7;WBP4

    Resources

    References

    • Chang, ALS; Atzmon, G; et al. Identification of Genes Promoting Skin Youthfulness by Genome-Wide Association Study. JOURNAL OF INVESTIGATIVE DERMATOLOGY 134:651-657(2014).
    • Schoen, CJ; Burmeister, M; et al. Diaphanous homolog 3 (Diap3) Overexpression Causes Progressive Hearing Loss and Inner Hair Cell Defects in a Transgenic Mouse Model of Human Deafness. PLOS ONE 8:-(2013).

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