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    Diaph1 diaphanous related formin 1 [ Mus musculus (house mouse) ]

    Gene ID: 13367, updated on 2-Aug-2021

    Summary

    Official Symbol
    Diaph1provided by MGI
    Official Full Name
    diaphanous related formin 1provided by MGI
    Primary source
    MGI:MGI:1194490
    See related
    Ensembl:ENSMUSG00000024456
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Di; Drf; mDi; Dia1; Drf1; Diap1; p140m; p140mDia; D18Wsu154; D18Wsu154e
    Summary
    This gene encodes a member of the formin family of proteins that play important roles in cytoskeletal rearragnement by nucleation of actin filaments. Mice lacking the encoded protein develop age-dependent myeloproliferative defects resembling human myeloproliferative syndrome and myelodysplastic syndromes. Trafficking of T lymphocytes to secondary lymphoid organs and egression of thymocytes from the thymus are impaired in these animals. Lack of the encoded protein in T lymphocytes and thymocytes also reduces chemotaxis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in thymus adult (RPKM 20.8), lung adult (RPKM 15.6) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Diaph1 in Genome Data Viewer
    Location:
    18 B3; 18 19.71 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (37976654..38068573, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (37843601..37935622, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (38004478..38095065, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 37013 Neighboring gene predicted gene, 38666 Neighboring gene predicted gene, 38667 Neighboring gene protocadherin gamma subfamily A, 1 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 predicted gene, 24401 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, 10 Neighboring gene protocadherin gamma subfamily A, 9 Neighboring gene protocadherin gamma subfamily A, 11 Neighboring gene protocadherin gamma subfamily B, 6 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene protocadherin gamma subfamily A, 12 Neighboring gene protocadherin gamma subfamily B, 8 Neighboring gene protocadherin gamma subfamily C, 3 Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene predicted gene, 29994 Neighboring gene microRNA 6979 Neighboring gene FCH and double SH3 domains 1 Neighboring gene histone deacetylase 3 Neighboring gene RELT-like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Chemically induced (ENU) (3) 
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA4062

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables profilin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament organization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular component organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to histamine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of microtubule-based process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein diaphanous homolog 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001305980.2NP_001292909.1  protein diaphanous homolog 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC129315
      Consensus CDS
      CCDS79635.1
      UniProtKB/TrEMBL
      E9PV41
      Related
      ENSMUSP00000025337.8, ENSMUST00000025337.14
      Conserved Domains (4) summary
      smart00498
      Location:7621199
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:523557
      Spc24; Spc24 subunit of Ndc80
    2. NM_001305981.2NP_001292910.1  protein diaphanous homolog 1 isoform 3

      See identical proteins and their annotated locations for NP_001292910.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC129315
      Consensus CDS
      CCDS84377.1
      UniProtKB/TrEMBL
      F6XC54
      Related
      ENSMUSP00000111294.2, ENSMUST00000115631.8
      Conserved Domains (4) summary
      smart00498
      Location:7181155
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:230420
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:40224
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:479513
      Spc24; Spc24 subunit of Ndc80
    3. NM_007858.4NP_031884.1  protein diaphanous homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_031884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter, compared to isoform 1.
      Source sequence(s)
      AC129315
      Consensus CDS
      CCDS57121.1
      UniProtKB/Swiss-Prot
      O08808
      Related
      ENSMUSP00000111297.2, ENSMUST00000115634.8
      Conserved Domains (4) summary
      smart00498
      Location:7531190
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:265455
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:75259
      Drf_GBD; Diaphanous GTPase-binding Domain
      pfam08286
      Location:514548
      Spc24; Spc24 subunit of Ndc80

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      37976654..38068573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160970.1XP_036016863.1  protein diaphanous homolog 1 isoform X1

      Conserved Domains (4) summary
      TIGR02168
      Location:429564
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam06367
      Location:274464
      Drf_FH3; Diaphanous FH3 Domain
      pfam02181
      Location:7611137
      FH2; Formin Homology 2 Domain
      pfam06371
      Location:84268
      Drf_GBD; Diaphanous GTPase-binding Domain
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