Diaph3 diaphanous-related formin 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Diaph3provided by RGD
Official Full Name: diaphanous-related formin 3provided by RGD
Primary source: RGD:1593287
See related: Ensembl:ENSRNOG00000008986 AllianceGenome:RGD:1593287
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: DRF3; Diap3; mDIA2
Summary: Predicted to enable actin binding activity and small GTPase binding activity. Involved in spermatogenesis. Located in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1. Orthologous to human DIAPH3 (diaphanous related formin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Thymus (RPKM 70.7), Spleen (RPKM 68.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 15q12

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	15	NC_086033.1 (68951992..69421623, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (62543375..63013060, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (69928507..70400077, complement)

Chromosome 15 - NC_086033.1 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

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that genetic testing for DIAPH3 may be useful for individuals with recessive as well as dominant inheritance of nonsyndromic auditory neuropathy.
Title: Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.

Submit: New GeneRIF Correction

General gene information

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Markers

D15Rat125 (e-PCR), detects polymorphism
- UniSTS:226686

AU027453 (e-PCR)
- UniSTS:113291

D15Rat150 (e-PCR), detects polymorphism
- UniSTS:226710

UniSTS:237232 (e-PCR)
- UniSTS:237232

RH137283 (e-PCR)
- UniSTS:219371

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 cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin crosslink formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within actin crosslink formation	ISO Inferred from Sequence Orthology 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 bundle assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within actin filament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IEA Inferred from Electronic Annotation 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
involved_in actin nucleation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in autophagosome-lysosome fusion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within autophagosome-lysosome fusion	ISO Inferred from Sequence Orthology more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell projection organization	ISO Inferred from Sequence Orthology more info
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromosome segregation	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
involved_in endosomal transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endosomal transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in erythrocyte enucleation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within erythrocyte enucleation	ISO Inferred from Sequence Orthology more info
involved_in establishment of cell polarity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within establishment of cell polarity	ISO Inferred from Sequence Orthology more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
involved_in head development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within head development	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
involved_in inner ear receptor cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear receptor cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within integrin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in macrophage differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within macrophage differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in microtubule polymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within microtubule polymerization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in podosome assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within podosome assembly	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein-containing complex remodeling	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of ESCRT I complex	IEA Inferred from Electronic Annotation more info
part_of ESCRT I complex	ISO Inferred from Sequence Orthology more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament bundle	IEA Inferred from Electronic Annotation more info
is_active_in actin filament bundle	ISO Inferred from Sequence Orthology more info
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
is_active_in cleavage furrow	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of filamentous actin	IEA Inferred from Electronic Annotation more info
part_of filamentous actin	ISO Inferred from Sequence Orthology more info
located_in microtubule organizing center	IEA Inferred from Electronic Annotation more info
is_active_in microtubule organizing center	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in ribbon synapse	IEA Inferred from Electronic Annotation more info
is_active_in ribbon synapse	ISO Inferred from Sequence Orthology more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info
is_active_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in stereocilia tip-link density	IEA Inferred from Electronic Annotation more info
is_active_in stereocilia tip-link density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein diaphanous homolog 3

Names: diaphanous homolog 3

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_001305172.1 → NP_001292101.1 protein diaphanous homolog 3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000015

UniProtKB/Swiss-Prot

A0A0G2K8Y4, F1LVW7

UniProtKB/TrEMBL

A0A3B4PZE1

Related

ENSRNOP00000012167.8, ENSRNOT00000012167.8

Conserved Domains (4) summary

pfam02181
Location:616 → 988

FH2; Formin Homology 2 Domain

pfam06367
Location:285 → 472

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:97 → 277

Drf_GBD; Diaphanous GTPase-binding Domain

pfam15927
Location:1003 → 1038

Casc1_N; Cancer susceptibility candidate 1 N-terminus

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086033.1 Reference GRCr8

Range

68951992..69421623 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063274163.1 → XP_063130233.1 protein diaphanous homolog 3 isoform X3
XM_063274159.1 → XP_063130229.1 protein diaphanous homolog 3 isoform X1

UniProtKB/Swiss-Prot

A0A0G2K8Y4, F1LVW7
XM_063274162.1 → XP_063130232.1 protein diaphanous homolog 3 isoform X2
XM_063274160.1 → XP_063130230.1 protein diaphanous homolog 3 isoform X2
XM_063274164.1 → XP_063130234.1 protein diaphanous homolog 3 isoform X4