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DIAPH1 Gene

protein-coding   GIFtS: 69
GCID: GC05M140875

Diaphanous-Related Formin 1

(Previous names: diaphanous (Drosophila, homolog) 1, diaphanous homolog 1...)
(Previous symbol: DFNA1)
  See DIAPH1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Diaphanous-Related Formin 11 2     Diaphanous Homolog 1 (Drosophila)1
DFNA11 2 5     DIA12
Diaphanous-Related Formin-12 3     Diaphanous Homolog 12
DRF12 3     hDIA12
LFHL12 5     Protein Diaphanous Homolog 12
Diaphanous (Drosophila, Homolog) 11     DIAP13

External Ids:    HGNC: 28761   Entrez Gene: 17292   Ensembl: ENSG000001315047   OMIM: 6021215   UniProtKB: O606103   

Export aliases for DIAPH1 gene to outside databases

Previous GC identifers: GC05M140711 GC05M141477 GC05M140877 GC05M140923 GC05M136039


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DIAPH1 Gene:
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. (provided by RefSeq, Jul
2008)

GeneCards Summary for DIAPH1 Gene:
DIAPH1 (diaphanous-related formin 1) is a protein-coding gene. Diseases associated with DIAPH1 include deafness, autosomal dominant 1, and dfna 1 nonsyndromic hearing loss and deafness. GO annotations related to this gene include identical protein binding and receptor binding. An important paralog of this gene is DAAM1.

UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610
Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin
structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the
actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and
transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during
signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize
microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By
similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The
MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at
the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B
activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is
required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and
cytoskeletal organization. Required in the control of cell shape

Gene Wiki entry for DIAPH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIAPH1 gene promoter:
         Sp1   AP-2alpha isoform 3   AP-1   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIAPH1 promoter sequence
   Search Chromatin IP Primers for DIAPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIAPH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31

DIAPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIAPH1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M140875:  view genomic region     (about GC identifiers)

Start:
140,894,583 bp from pter      End:
140,998,622 bp from pter
Size:
104,040 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610 (See protein sequence)
Recommended Name: Protein diaphanous homolog 1  
Size: 1272 amino acids; 141347 Da
Subunit: Homodimer. Interacts with the GTP-bound form of RHOA. Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC.
Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain. Interacts with NCDN (By similarity)
Sequence caution: Sequence=BAB14533.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD92719.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NF18 B7ZKW2 E9PEZ2 Q17RN4 Q59FH8 Q9UC76
Alternative splicing: 3 isoforms:  O60610-1   O60610-2   O60610-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DIAPH1: NX_O60610

Explore proteomics data for DIAPH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys311, Lys486, Lys774, Lys855, Lys1224, Lys1239
  • Modification sites at PhosphoSitePlus

  • See DIAPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073280.1  NP_005210.3  

    ENSEMBL proteins: 
     ENSP00000373706   ENSP00000429282   ENSP00000408159   ENSP00000428268   ENSP00000427880  
     ENSP00000428208   ENSP00000430587   ENSP00000381570   ENSP00000373709   ENSP00000381572  
     ENSP00000381565   ENSP00000253811  

    DIAPH1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DIAPH1
    OriGene MassSpec for DIAPH1
    OriGene Custom Protein Services for DIAPH1
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    Novus Biologicals DIAPH1 Protein
    Novus Biologicals DIAPH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DIAPH1

     
    Search eBioscience for Proteins for DIAPH1 

    DIAPH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DIAPH1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for DIAPH1  (diaphanous 1)
    OriGene Antibodies for DIAPH1
    OriGene Custom Antibody Services for DIAPH1
    Novus Biologicals DIAPH1 Antibodies
    Abcam antibodies for DIAPH1
    Cloud-Clone Corp. Antibodies for DIAPH1
    ThermoFisher Antibody for DIAPH1
    LSBio Antibodies in human, mouse, rat for DIAPH1

    DIAPH1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DIAPH1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DIAPH1
    Cloud-Clone Corp. CLIAs for DIAPH1
    Search eBioscience for ELISAs for DIAPH1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR010473 GTPase-bd
     IPR010472 FH3_dom
     IPR015425 FH2_Formin
     IPR027653 Formin_Diaph1
     IPR014767 Diaphanous_autoregulatory

    Graphical View of Domain Structure for InterPro Entry O60610

    ProtoNet protein and cluster: O60610

    4 Blocks protein domains:
    IPB003104 Actin-binding FH2
    IPB009408 Formin Homology 1
    IPB010465 DRF autoregulatory
    IPB010472 Diaphanous FH3


    UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610
    Domain: The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This
    autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2
    domain to then nucleate and elongate nonbranched actin filaments (By similarity)
    Similarity: Belongs to the formin homology family. Diaphanous subfamily
    Similarity: Contains 1 DAD (diaphanous autoregulatory) domain
    Similarity: Contains 1 FH1 (formin homology 1) domain
    Similarity: Contains 1 FH2 (formin homology 2) domain
    Similarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain


    Find genes that share domains with DIAPH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DIAP1_HUMAN, O60610
    Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin
    structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the
    actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and
    transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during
    signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize
    microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By
    similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The
    MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at
    the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B
    activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is
    required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and
    cytoskeletal organization. Required in the control of cell shape

         Genatlas biochemistry entry for DIAPH1:
    Drosophila diaphanous homolog 1,widely expressed in cochlea and many tissues,formin family,acting as a RHO
    effector and involved in cytokinesis,mutated in DFNA1

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003779actin binding IEA--
    GO:0005102receptor binding NAS9360932
    GO:0005488binding ----
    GO:0005515protein binding IPI18218625
         
    Find genes that share ontologies with DIAPH1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for DIAPH1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased focal adhesion (FA)  

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Diap1):
     cellular  craniofacial  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  no phenotypic analysis  skeleton 

    Find genes that share phenotypes with DIAPH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DIAPH1: Diap1tm1Asal Diap1tm1.1Sna

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIAPH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DIAPH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIAPH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIAPH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DIAPH1:
    hsa-let-7e-5p (MIRT051524), hsa-mir-615-3p (MIRT039957), hsa-let-7b-5p (MIRT032344), hsa-mir-18a-5p (MIRT050684), hsa-mir-185-5p (MIRT045342), hsa-mir-27b-3p (MIRT046188), hsa-mir-320a (MIRT044627), hsa-mir-328-3p (MIRT043807), hsa-mir-92a-3p (MIRT049688), hsa-mir-23b-3p (MIRT046300)

    Block miRNA regulation of human, mouse, rat DIAPH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIAPH1 (see all 43):
    hsa-miR-15a hsa-miR-502-3p hsa-miR-124 hsa-miR-9 hsa-miR-424 hsa-miR-3150b-3p hsa-miR-489 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidDIAPH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DIAPH1
    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DIAPH1

    Clone
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    OriGene clones in human, mouse for DIAPH1 (see all 14)
    OriGene ORF clones in mouse, rat for DIAPH1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH1 (NM_005219)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DIAPH1
    Browse ESI BIO Cell Lines and PureStem Progenitors for DIAPH1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DIAP1_HUMAN, O60610: Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane
    ruffles, especially at the tip of ruffles, of motile cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0032587ruffle membrane IEA--
    GO:0043005neuron projection IEA--
    GO:0072686mitotic spindle IDA15123714

    Find genes that share ontologies with DIAPH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DIAPH1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    3Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    4Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.41
    5Integrin Pathway
    Transendothelial Migration of Leukocytes0.38


    Find genes that share SuperPaths with DIAPH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DIAPH1
        CDC42 Pathway
    Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for DIAPH1
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for DIAPH1
        G-protein signaling RhoB regulation pathway
    Immune response CCR3 signaling in eosinophils
    G-protein signaling RhoA regulation pathway

    4 BioSystems Pathways for DIAPH1
        G13 Signaling Pathway
    AGE/RAGE pathway
    Stabilization and expansion of the E-cadherin adherens junction
    RhoA signaling pathway


    3 Kegg Pathways  (Kegg details for DIAPH1):
        Focal adhesion
    Regulation of actin cytoskeleton
    Shigellosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DIAPH1: 
              Cytoskeleton Regulators in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DIAPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DIAPH1 (O606101, 2, 3 ENSP000003815654) via UniProtKB, MINT, STRING, and/or I2D (see all 925)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000349960
    RHOAP615861, 3, ENSP000004001754EBI-3959709,EBI-446668 I2D: score=8 STRING: ENSP00000400175
    PRPF40AO754002, 3MINT-7945693 MINT-61859 I2D: score=5 
    EEF1A1P681042, 3MINT-7945693 MINT-7947479 I2D: score=4 
    EIF4A3P389192, 3MINT-7945693 MINT-7947479 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IMP--
    GO:0007605sensory perception of sound IEA--
    GO:0008360regulation of cell shape IMP--
    GO:0016043cellular component organization ----
    GO:0030036actin cytoskeleton organization ----

    Find genes that share ontologies with DIAPH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIAPH1 (DIAP1)

    1 HMDB Compound for DIAPH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DIAPH1 gene (2 alternative transcripts): 
    NM_001079812.2  NM_005219.4  

    Unigene Cluster for DIAPH1:

    Diaphanous homolog 1 (Drosophila)
    Hs.529451  [show with all ESTs]
    Unigene Representative Sequence: NM_005219
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476339 ENST00000389054(uc011dbd.2 uc003llb.4 uc003llc.4)
    ENST00000520569 ENST00000448451 ENST00000518047(uc010jgc.1) ENST00000468119
    ENST00000521457 ENST00000491754 ENST00000494967 ENST00000518484 ENST00000523100
    ENST00000472516 ENST00000524301 ENST00000398562 ENST00000389057(uc021yeq.1)
    ENST00000398566 ENST00000398557(uc021yep.1) ENST00000253811
    miRNA
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    Block miRNA regulation of human, mouse, rat DIAPH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIAPH1 (see all 43):
    hsa-miR-15a hsa-miR-502-3p hsa-miR-124 hsa-miR-9 hsa-miR-424 hsa-miR-3150b-3p hsa-miR-489 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidDIAPH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DIAPH1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH1 (NM_005219)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DIAPH1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIAPH1
      QuantiTect SYBR Green Assays in human, mouse, rat DIAPH1
      QuantiFast Probe-based Assays in human, mouse, rat DIAPH1

    Additional mRNA sequence: 

    AB209482.1 AF051782.1 AK023345.1 AK057994.1 AK094264.1 AK127054.1 AK301195.1 AK304291.1 
    AK307822.1 AL050086.1 AL832054.1 AY007129.1 AY360322.1 AY363395.1 BC007411.2 BC117257.1 
    BC131603.1 BC143413.1 BC143414.1 BT007318.1 DQ067452.1 DQ067453.1 

    17 DOTS entries:

    DT.442889  DT.99983809  DT.75153851  DT.100794951  DT.75122725  DT.100794947  DT.91662257  DT.95356197 
    DT.120855461  DT.100794946  DT.120855413  DT.95071032  DT.95283621  DT.97800772  DT.91832871  DT.92031152 
    DT.99929374 

    Selected AceView cDNA sequences (see all 345):

    AI671537 AI905016 AY007129 BU753522 AK023345 BG164436 AU121440 AI633823 
    CK902912 CA421649 AW087951 BX421598 BE892429 CB115659 BM468074 BC007411 
    BI962820 CA841358 BQ775281 CA429389 AI539591 BU753872 BP346219 AI678957 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
    SP1:                                                                                                                                                  -     -   
    SP2:                                                  -                                                                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                            -                                                               
    SP5:                                                                                                                                                  -     -   

    ExUns: 22 ^ 23 ^ 24a · 24b · 24c
    SP1:        -                     
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for DIAPH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DIAPH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGCAACTA
    DIAPH1 Expression
    About this image


    DIAPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Bone Marrow
    DIAPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIAPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529451

    UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610
    Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and
    cochlea

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DIAPH1: 
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              Cell Motility in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for DIAPH1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Diap11 , 5 diaphanous homolog 1 (Drosophila)1, 5 86.19(n)1
    90.06(a)1
      18 (19.71 cM)5
    133671  NM_007858.21  NP_031884.11 
     378436015 
    lizard
    (Anolis carolinensis)
    Reptilia DIAPH16
    diaphanous-related formin 1
    74(a)
    1 ↔ 1
    4(76361639-76462050)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164632 Xenopus laevis transcribed sequence with weak similarity more 79.35(n)    BJ039936.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01057928.16
    Uncharacterized protein
    68(a)
    1 ↔ 1
    23(2678702-2684888) ENSDARG00000078231
    fruit fly
    (Drosophila melanogaster)
    Insecta dia1 , 3 actin filament-based process actin
    binding3
    diaphanous1
    44(a)3
    51.33(n)1
    40.91(a)1
      353401  NM_001259184.11  NP_001246113.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-16
    Protein CYK-1, isoform a (cyk-1) mRNA, complete cd...
    23(a)
    1 → many
    III(7023642-7029196) WBGene00000872


    ENSEMBL Gene Tree for DIAPH1 (if available)
    TreeFam Gene Tree for DIAPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DIAPH1 gene
    DAAM12  FMNL32  FHDC12  FMNL12  DAAM22  INF22  FMNL22  GRID2IP2  
    FMN12  DIAPH22  FMN22  DIAPH32  
    4 SIMAP similar genes for DIAPH1 using alignment to 14 protein entries:     DIAP1_HUMAN (see all proteins):
    DIAPH2    DIAPH3    DAAM2    FMN1

    Find genes that share paralogs with DIAPH1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DIAPH1 (see all 1944)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452171581,2
    C--136065901(+) GTCTC-/AAAAAA 2 -- int10--------
    rs106460631,2
    C--136091109(+) tctca-/AAAAC/A
    AAACAAAAC
    aaaac
    2 -- int10--------
    rs2002428141,2
    C--136116700(+) AAGTT-/AACAACAA 2 -- int10--------
    rs750700121,2
    C,F--136116729(+) AACAAC/AAACAA 2 -- int12Minor allele frequency- A:0.05NA EA 240
    rs68664271,2
    C,F,H--140894147(+) GGTAAA/GCCCCT 2 -- ds50012Minor allele frequency- G:0.14NS 456
    rs727900781,2
    C,F--140894207(+) AAATGG/AGAGCC 2 -- ds50012Minor allele frequency- A:0.03NA EA 240
    rs1424021931,2
    C--140894700(+) CACAC-/CTCT  
            
    CTCTC
    2 -- ut310--------
    rs2021579151,2
    --140894791(+) AGCAG-/GGAGGAGG 2 -- cds10--------
    rs768017981,2
    C,F--140894821(+) AGACGC/TCCTGC 2 -- ut311Minor allele frequency- T:0.02WA 118
    rs1427837761,2
    --140894925(+) CCTCAC/TTATAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for DIAPH1 (140894583 - 140998622 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DIAPH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5033CNV Insertion18451855
    esv25744CNV Gain19812545
    nsv516495CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): DIAPH1
    Locus Specific Mutation Databases (LSDB): DIAPH1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602121   
    OMIM disorders: 124900  
    UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610
  • Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]: A form of non-syndromic sensorineural hearing loss.
    Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the
    brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for DIAPH1:    
    About MalaCards
    deafness, autosomal dominant 1    dfna 1 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 4b

    1 disease from the University of Copenhagen DISEASES database for DIAPH1:
    Chondrosarcoma

    Find genes that share disorders with DIAPH1           About GenesLikeMe

    3 Novoseek inferred disease relationships for DIAPH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 5.3 1 17182868 (1)
    tumors 0 1 14561774 (1)
    cancer 0 1 20303269 (1)

    Genetic Association Database (GAD): DIAPH1
    Human Genome Epidemiology (HuGE) Navigator: DIAPH1 (1 document)

    Export disorders for DIAPH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for DIAPH1 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with DIAPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (PubMed id 9360932)1, 2, 3 Lynch E.D.... King M.-C. (Science 1997)
    2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    3. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    4. HAN11 binds mDia1 and controls GLI1 transcriptional activity. (PubMed id 16887337)1, 2 Morita K.... Watt F.M. (J. Dermatol. Sci. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins. (PubMed id 7737110)1, 2 Reinhard M.... Walter U. (EMBO J. 1995)
    7. The gene for an inherited form of deafness maps to chromosome 5q31. (PubMed id 1350680)1, 3 Leon P.E....King M.C. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    8. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. (PubMed id 17182868)1, 9 Carreira S....Goding C.R. (amp 2006)
    9. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    10. The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration. (PubMed id 24126053)1 Dachsel J.C....Anastasiadis P.Z. (Mol. Cell. Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1729 HGNC: 2876 AceView: DIAPH1 Ensembl:ENSG00000131504 euGenes: HUgn1729
    ECgene: DIAPH1 Kegg: 1729 H-InvDB: DIAPH1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DIAPH1 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DIAPH1 gene:
    Search GeneIP for patents involving DIAPH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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