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

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: human all
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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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DIAPH1 mediates progression of atherosclerosis and regulates hepatic lipid metabolism in mice.
Title: DIAPH1 mediates progression of atherosclerosis and regulates hepatic lipid metabolism in mice.
Disruption of actin dynamics regulated by Rho effector mDia1 attenuates pressure overload-induced cardiac hypertrophic responses and exacerbates dysfunction.
Title: Disruption of actin dynamics regulated by Rho effector mDia1 attenuates pressure overload-induced cardiac hypertrophic responses and exacerbates dysfunction.
Mechanochemical coupling of formin-induced actin interaction at the level of single molecular complex.
Title: Mechanochemical coupling of formin-induced actin interaction at the level of single molecular complex.
We identify mDia1 as a novel regulator of mast cell response that coordinates mast cell chemotaxis and secretion through its actin-nucleating activity.
Title: Mammalian diaphanous-related formin 1 (mDia1) coordinates mast cell migration and secretion through its actin-nucleating activity.
Deletion of the RAGE cytoplasmic domain binding partner Diaph1 suppresses glomerular inflammation as well as podocyte stress and effacement in mouse model of diabetic nephropathy.
Title: Deletion of the formin Diaph1 protects from structural and functional abnormalities in the murine diabetic kidney.
The authors report that formins mDia1 and mDia2 dissociate faster under higher ionic strength and when actin concentration is increased. Profilin, known to increase the elongation rate of formin-associated filaments, surprisingly decreases the formin dissociation rate, by bringing formin FH1 domains in transient contact with the barbed end.
Title: Modulation of formin processivity by profilin and mechanical tension.
individual and combined, CRISPR/Cas9-mediated disruption of genes encoding mDia1 and -3 formins in B16-F1 mouse melanoma cells revealed enhanced frequency of cells displaying multiple fronts, again accompanied by defects in cell polarization and migration
Title: Functional integrity of the contractile actin cortex is safeguarded by multiple Diaphanous-related formins.
Loss of mDia1/3 impaired these F-actin architectures, induced ectopic noncontractile espin1-containing F-actin bundles, and disrupted Sertoli cell-germ cell interaction, resulting in impaired spermatogenesis.
Title: mDia1/3 generate cortical F-actin meshwork in Sertoli cells that is continuous with contractile F-actin bundles and indispensable for spermatogenesis and male fertility.
Dia1 is an essential regulator of tissue shape changes through its role in stabilizing focal adhesions.
Title: Dia1-dependent adhesions are required by epithelial tissues to initiate invasion.
We studied the interactions between actin and the FH2 domains of formins Cdc12, Bni1 and mDia1 to understand the factors underlying their different rates of polymerization. All-atom molecular dynamics simulations revealed two factors that influence actin filament elongation and correlate with the rates of elongation
Title: Gating mechanisms during actin filament elongation by formins.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Chemically induced (ENU) (3)
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA408148 (e-PCR)
- UniSTS:181085

RH125771 (e-PCR)
- UniSTS:142200

RH124673 (e-PCR)
- UniSTS:161495

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

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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)

NM_001305980.2 → NP_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:762 → 1199

FH2; Formin Homology 2 Domain

pfam06367
Location:274 → 464

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:84 → 268

Drf_GBD; Diaphanous GTPase-binding Domain

pfam08286
Location:523 → 557

Spc24; Spc24 subunit of Ndc80
NM_001305981.2 → NP_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:718 → 1155

FH2; Formin Homology 2 Domain

pfam06367
Location:230 → 420

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:40 → 224

Drf_GBD; Diaphanous GTPase-binding Domain

pfam08286
Location:479 → 513

Spc24; Spc24 subunit of Ndc80
NM_007858.4 → NP_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:753 → 1190

FH2; Formin Homology 2 Domain

pfam06367
Location:265 → 455

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:75 → 259

Drf_GBD; Diaphanous GTPase-binding Domain

pfam08286
Location:514 → 548

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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

37976654..38068573 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E9PXV7

Conserved Domains (4) summary

TIGR02168
Location:429 → 564

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam06367
Location:274 → 464

Drf_FH3; Diaphanous FH3 Domain

pfam02181
Location:761 → 1137

FH2; Formin Homology 2 Domain

pfam06371
Location:84 → 268

Drf_GBD; Diaphanous GTPase-binding Domain