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    DIAPH1 diaphanous related formin 1 [ Homo sapiens (human) ]

    Gene ID: 1729, updated on 5-Aug-2018

    Summary

    Official Symbol
    DIAPH1provided by HGNC
    Official Full Name
    diaphanous related formin 1provided by HGNC
    Primary source
    HGNC:HGNC:2876
    See related
    Ensembl:ENSG00000131504 MIM:602121; Vega:OTTHUMG00000149893
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIA1; DRF1; DFNA1; LFHL1; SCBMS; hDIA1
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 26.9), bone marrow (RPKM 25.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See DIAPH1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (141515016..141619055, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140894588..140998622, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin gamma subfamily A, 1 Neighboring gene protocadherin gamma cluster Neighboring gene protocadherin gamma subfamily A, 2 Neighboring gene protocadherin gamma subfamily A, 3 Neighboring gene protocadherin gamma subfamily B, 1 Neighboring gene protocadherin gamma subfamily A, 4 Neighboring gene protocadherin gamma subfamily B, 2 Neighboring gene protocadherin gamma subfamily A, 5 Neighboring gene protocadherin gamma subfamily B, 3 Neighboring gene protocadherin gamma subfamily A, 6 Neighboring gene protocadherin gamma subfamily A, 7 Neighboring gene protocadherin gamma subfamily B, 4 Neighboring gene protocadherin gamma subfamily A, 8 Neighboring gene protocadherin gamma subfamily B, 5 Neighboring gene protocadherin gamma subfamily A, 9 Neighboring gene protocadherin gamma subfamily B, 6 Neighboring gene protocadherin gamma subfamily A, 10 Neighboring gene protocadherin gamma subfamily A, 11 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene protocadherin gamma subfamily A, 12 Neighboring gene RNA, 7SL, cytoplasmic 68, pseudogene Neighboring gene protocadherin gamma subfamily C, 3 Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene uncharacterized LOC100505658 Neighboring gene ribosomal protein S27a pseudogene 10 Neighboring gene histone deacetylase 3 Neighboring gene FCH and double SH3 domains 1 Neighboring gene RELT like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human diaphanous homolog 1 (Drosophila) (DIAPH1) at amino acid residues 1237-1238 by the HIV-1 protease PubMed
    gag-pol HIV-1 PR is identified to have a physical interaction with diaphanous homolog 1 (DIAPH1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
      AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
    • ERBB2 Regulates Cell Motility, organism-specific biosystem (from REACTOME)
      ERBB2 Regulates Cell Motility, organism-specific biosystemActivated ERBB2 heterodimers regulate cell motility through association with MEMO1. MEMO1 retains activated RHOA GTPase and its associated protein DIAPH1 at the plasma membrane, thus linking ERBB2 ac...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RhoA signaling pathway, organism-specific biosystem
      RhoA signaling pathway
    • Shigellosis, organism-specific biosystem (from KEGG)
      Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
      Stabilization and expansion of the E-cadherin adherens junction

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25265

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    Rho GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to histamine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to microtubule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell motility TAS
    Traceable Author Statement
    more info
     
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of microtubule-based process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein diaphanous homolog 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011594.1 RefSeqGene

      Range
      5001..109035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079812.2NP_001073280.1  protein diaphanous homolog 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, as compared to variant 1, which results in a shorter isoform (2).
      Source sequence(s)
      AK023345, AY007129, BC117257, DA593734
      Consensus CDS
      CCDS43373.1
      UniProtKB/Swiss-Prot
      O60610
      Related
      ENSP00000428268.2, OTTHUMP00000224777, ENST00000518047.5, OTTHUMT00000375274
      Conserved Domains (5) summary
      smart00498
      Location:7611198
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:589691
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:265455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75259
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:514560
      Spc24; Spc24 subunit of Ndc80
    2. NM_001314007.1NP_001300936.1  protein diaphanous homolog 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC008781, AY007129, BC143414, DA593734
      Consensus CDS
      CCDS87331.1
      Related
      ENSP00000494675.1, ENST00000647433.1
      Conserved Domains (5) summary
      smart00498
      Location:7701207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523569
      Spc24; Spc24 subunit of Ndc80
    3. NM_005219.4NP_005210.3  protein diaphanous homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_005210.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB209482, AY007129, AY363395, DA593734
      Consensus CDS
      CCDS43374.1
      UniProtKB/Swiss-Prot
      O60610
      UniProtKB/TrEMBL
      Q6URC4
      Related
      ENSP00000373706.4, OTTHUMP00000195047, ENST00000389054.7, OTTHUMT00000313771
      Conserved Domains (5) summary
      smart00498
      Location:7701207
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523569
      Spc24; Spc24 subunit of Ndc80

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      141515016..141619055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454384.1XP_024310152.1  protein diaphanous homolog 1 isoform X1

      Conserved Domains (5) summary
      pfam02181
      Location:7691145
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:598700
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:429570
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_024454385.1XP_024310153.1  protein diaphanous homolog 1 isoform X2

      Conserved Domains (5) summary
      pfam02181
      Location:7601136
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:589691
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:265455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75259
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:420561
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_024454387.1XP_024310155.1  protein diaphanous homolog 1 isoform X4

      Conserved Domains (5) summary
      pfam02181
      Location:7471123
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:576678
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:252442
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:62246
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:407548
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_024454386.1XP_024310154.1  protein diaphanous homolog 1 isoform X3

      Conserved Domains (5) summary
      pfam02181
      Location:7571133
      FH2; Formin Homology 2 Domain
      pfam06346
      Location:586688
      Drf_FH1; Formin Homology Region 1
      pfam06367
      Location:262452
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:72256
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl25732
      Location:417558
      SMC_N; RecF/RecN/SMC N terminal domain
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