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

Gene ID: 13367, updated on 18-Apr-2024

Summary

Official Symbol
Diaph1provided by MGI
Official Full Name
diaphanous related formin 1provided by MGI
Primary source
MGI:MGI:1194490
See related
Ensembl:ENSMUSG00000024456 AllianceGenome:MGI:1194490
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
Dia1; Drf1; Diap1; p140mDia; 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

Location:
18 B3; 18 19.71 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene protocadherin alpha 4B 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 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 A, 12 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene STARR-seq mESC enhancer starr_44324 Neighboring gene protocadherin gamma subfamily B, 8 Neighboring gene cDNA sequence BC037039 Neighboring gene protocadherin gamma subfamily C, 3 Neighboring gene STARR-seq mESC enhancer starr_44330 Neighboring gene STARR-seq mESC enhancer starr_44331 Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene predicted gene, 29994 Neighboring gene STARR-seq mESC enhancer starr_44332 Neighboring gene STARR-positive B cell enhancer ABC_E8711 Neighboring gene microRNA 6979 Neighboring gene STARR-seq mESC enhancer starr_44334 Neighboring gene STARR-positive B cell enhancer ABC_E1953 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)
  • Endonuclease-mediated (3) 
  • Chemically induced (ENU) (3) 
  • Targeted (5)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 polymerization IBA
Inferred from Biological aspect of Ancestor
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 
acts_upstream_of_or_within actin nucleation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within axon midline choice point recognition IGI
Inferred from Genetic Interaction
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
 
acts_upstream_of_or_within ephrin receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within gene expression IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within multicellular organismal locomotion IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron projection regeneration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuron projection retraction IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
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
 
involved_in synaptic vesicle endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
 
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 presynapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein diaphanous homolog 1

NCBI Reference Sequences (RefSeq)

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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, E9PXV7
    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
    D3Z074, 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
    UniProtKB/TrEMBL
    E9PXV7
    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: GCF_000001635.27-RS_2024_02

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

    UniProtKB/TrEMBL
    E9PXV7
    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