Diaph1 diaphanous-related formin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Diaph1provided by RGD
Official Full Name: diaphanous-related formin 1provided by RGD
Primary source: RGD:1310707
See related: EnsemblRapid:ENSRNOG00000019688 AllianceGenome:RGD:1310707
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: DRF1; Diap1; mDIA1
Summary: Predicted to enable several functions, including profilin binding activity; small GTPase binding activity; and transmembrane transporter binding activity. Involved in positive regulation of cell migration. Predicted to be located in several cellular components, including brush border; ruffle membrane; and spindle. Predicted to be active in actin filament. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss. Orthologous to human DIAPH1 (diaphanous related formin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 120.0), Spleen (RPKM 118.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 18p11

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	18	NC_086036.1 (29920889..30020280, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	18	NC_051353.1 (29669659..29769070, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	18	NC_005117.4 (30972907..31071371, complement)

Chromosome 18 - NC_086036.1 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study demonstrated that the RhoA-mDia1 and Cdc42 pathways regulate Activin B-induced BMSC migration.
Title: mDia1 and Cdc42 Regulate Activin B-Induced Migration of Bone Marrow-Derived Mesenchymal Stromal Cells.
these results uncover a novel role for mDia1 in Abeta-mediated synaptotoxicity and demonstrate that inhibition of MT dynamics and accumulation of PTMs are driving factors for the induction of tau-mediated neuronal damage.
Title: Stabilization of dynamic microtubules by mDia1 drives Tau-dependent Aβ(1-42) synaptotoxicity.
mDia plays an important role in the development of force-induced transcriptional activation of SMA and myofibroblast differentiation
Title: Force-induced myofibroblast differentiation through collagen receptors is dependent on mammalian diaphanous (mDia).
mDia1 and mDia2 are indeed involved in the regulation of Sertoli cell and germ structure during mammalian spermatogenesis
Title: Expression of the diaphanous-related formin proteins mDia1 and mDia2 in the rat testis.
These data show that coordinate regulation between the WASP family and mDia proteins controls the balance between lamellar and lamellipodial protrusion activity.
Title: WASP family members and formin proteins coordinate regulation of cell protrusions in carcinoma cells.
These results indicate that RhoA-dependent signaling through mDia1/2 and the MRTFs is important for SMC-specific gene expression in smooth muscle cells.
Title: Diaphanous 1 and 2 regulate smooth muscle cell differentiation by activating the myocardin-related transcription factors.

Submit: New GeneRIF Correction

General gene information

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Markers

RH130783 (e-PCR)
- UniSTS:214067

RH124673 (e-PCR)
- UniSTS:161495

BE119953 (e-PCR)
- UniSTS:249312

RH127883 (e-PCR)
- UniSTS:211193

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables profilin binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within actin nucleation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axon midline choice point recognition	ISO Inferred from Sequence Orthology more info
involved_in brain development	ISO Inferred from Sequence Orthology more info
involved_in cellular response to histamine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to histamine	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ephrin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organismal locomotion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron projection regeneration	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron projection retraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to microtubule	IEA Inferred from Electronic Annotation more info
involved_in protein localization to microtubule	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of microtubule-based process	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in regulation of release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in brush border	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info
located_in spindle microtubule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein diaphanous homolog 1

Names: 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_001107393.3 → NP_001100863.3 protein diaphanous homolog 1 isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000018

UniProtKB/Swiss-Prot

F1M775

UniProtKB/TrEMBL

A0A8L2QTN9

Related

ENSRNOP00000057176.5, ENSRNOT00000060432.7

Conserved Domains (3) summary

smart00498
Location:764 → 1201

FH2; Formin Homology 2 Domain

TIGR02169
Location:434 → 586

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam06367
Location:274 → 464

Drf_FH3; Diaphanous FH3 Domain
NM_001395102.1 → NP_001382031.1 protein diaphanous homolog 1 isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000018

UniProtKB/Swiss-Prot

F1M775

UniProtKB/TrEMBL

A0A8I6A828

Related

ENSRNOP00000088426.1, ENSRNOT00000102970.2

Conserved Domains (3) summary

smart00498
Location:755 → 1192

FH2; Formin Homology 2 Domain

TIGR02169
Location:425 → 577

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam06367
Location:265 → 455

Drf_FH3; Diaphanous FH3 Domain