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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIAPH1 Gene

protein-coding   GIFtS: 67
GCID: GC05M140875

Diaphanous-Related Formin 1

(Previous names: diaphanous (Drosophila, homolog) 1, diaphanous homolog 1...)
(Previous symbol: DFNA1)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Focal Adhesion and Regulation of Actin Cytoskeleton. GO annotations related to this gene include actin binding and ion channel 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DIAPH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane
ruffles, especially at the tip of ruffles, of motile cells
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60610

  • DIAPH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIAPH1 Protein Expression
    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  

    Human Recombinant Protein Products for DIAPH1: 
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    OriGene Protein Over-expression Lysate for DIAPH1
    OriGene MassSpec for DIAPH1 
    OriGene Custom Protein Services for DIAPH1
    GenScript Custom Purified and Recombinant Proteins Services for DIAPH1
    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    DIAPH1 for ontologies           About GeneDecksing



    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)
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    GenScript Custom Superior Antibodies 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 

    Assay Products for DIAPH1: 
    Browse Kits and Assays available from EMD Millipore
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    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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR010473 Drf_GTPase-bd
     IPR010472 Drf_FH3
     IPR015425 FH2_actin-bd
     IPR014767 Diaphanous_autoregulatory
     IPR003104 Actin-bd_FH2/DRF_autoreg

    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


    DIAPH1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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
         
    DIAPH1 for ontologies           About GeneDecksing


    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  hematopoietic system  homeostasis/metabolism 
     immune system  integument  no phenotypic analysis  skeleton 

    DIAPH1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DIAPH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIAPH1
    8/43 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DIAPH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of DIAPH1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DIAPH1 (see all 15)
    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
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                         Customized lentivirus expression plasmids for stable overexpression of DIAPH1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DIAPH1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal Adhesion
    Focal adhesion0.64
    2Regulation of Actin Cytoskeleton
    Regulation of actin cytoskeleton0.57
    3Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    4G-protein signaling RhoB regulation pathway
    G-protein signaling RhoB regulation pathway1.00
    5G-protein signaling RhoA regulation pathway
    G-protein signaling RhoA regulation pathway1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for DIAPH1
        G-protein signaling RhoB regulation pathway
    Immune response CCR3 signaling in eosinophils
    G-protein signaling RhoA regulation pathway

    2 Downloadable PowerPoint Slides of QIAGEN 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


    DIAPH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DIAPH1

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

    5/925 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 ----

    DIAPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about DIAPH1 / DIAP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    SwitchGear 3'UTR luciferase reporter plasmidDIAPH1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIAPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1
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      QIAGEN 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 

    24/345 AceView cDNA sequences (see all 345):

    CA421649 AW087951 BX421598 BE892429 CB115659 BM468074 BC007411 BI962820 
    CA841358 BQ775281 CA429389 AI539591 BU753872 BP346219 AI678957 CD672287 
    BE891791 AK127054 BM543305 AY360322 BM993934 AU141180 AI685100 CB142161 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See DIAPH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIAPH1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including DIAPH1: 
              Cytoskeleton Regulators in human mouse rat
              Focal Adhesions in human mouse rat
              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

    This gene was present in the common ancestor of animals.

    Orthologs for DIAPH1 gene from 7/15 species (see all 15)    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 87.35(n)1
    91.63(a)1
      18 (19.71 cM)5
    133671  NM_007858.21  NP_031884.11 
     378436015 
    chicken
    (Gallus gallus)
    Aves DIAPH11 diaphanous homolog 1 (Drosophila) 59.46(n)
    57.54(a)
      374040  NM_204210.1  NP_989541.1 
    lizard
    (Anolis carolinensis)
    Reptilia DIAPH16
    diaphanous homolog 1 (Drosophila)
    73(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)
    fruit fly
    (Drosophila melanogaster)
    Insecta dia3 actin filament-based process actin
    binding
    44(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea cyk-16
    inft-16
    Protein INFT-1
    21(a)
    16(a)
    many → 1
    possible ortholog
    III(7023642-7029196)
    III(1103224-1112298)


    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)
    About This Section
    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

    DIAPH1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1944 SNPs in DIAPH1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for DIAPH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 10 diseases for DIAPH1:    About MalaCards
    deafness, autosomal dominant 1    dfna 1 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, autosomal dominant    wolfram syndrome
    shigellosis    nonsyndromic deafness    sensorineural hearing loss    melanoma
    endotheliitis    neuronitis

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

    DIAPH1 for disorders           About GeneDecksing

    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

    PubMed articles for DIAPH1 gene, integrated from 9 sources (see all 99):
    (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. (1997)
    2. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (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. (2007)
    4. HAN11 binds mDia1 and controls GLI1 transcriptional activity. (PubMed id 16887337)1, 2 Morita K....Watt F.M. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (1992)
    8. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. (PubMed id 17182868)1, 9 Carreira S....Goding C.R. (2006)
    9. cAMP-stimulated phosphorylation of diaphanous 1 regula tes protein stability and interaction with binding partners in adrenocortical ce lls. (PubMed id 23325789)1 Li D....Sewer M.B. (2013)
    10. A Proteomics Strategy for the Identification of FAT10- Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 1729 HGNC: 2876 AceView: DIAPH1 Ensembl:ENSG00000131504 euGenes: HUgn1729
    ECgene: DIAPH1 Kegg: 1729 H-InvDB: DIAPH1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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