dia diaphanous [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: diaprovided by FlyBase
Official Full Name: diaphanousprovided by FlyBase
Primary source: FLYBASE:FBgn0011202
Locus tag: Dmel_CG1768
See related: AllianceGenome:FB:FBgn0011202
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: 38E.16; CG1768; Dia; DIA; Diaphanous; Dias; Dmel\CG1768; l(2)k07135; ms(2)04138
Summary: Enables phosphatidylinositol-4,5-bisphosphate binding activity and small GTPase binding activity. Involved in several processes, including cytoskeleton organization; cytoskeleton-dependent cytokinesis; and regulation of actin cytoskeleton organization. Located in several cellular components, including apical part of cell; cell cortex; and cleavage furrow. Part of protein-containing complex. Is active in M band and Z disc. Colocalizes with actin filament; apical plasma membrane; and cytoneme. Is expressed in several structures, including embryonic/larval digestive system; embryonic/larval neuromuscular junction; epithelial tube; indirect flight muscle cell; and spermatozoon. Used to study autosomal dominant auditory neuropathy 1. Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1; autosomal dominant nonsyndromic deafness 1; primary ovarian insufficiency; primary ovarian insufficiency 2A; and sensorineural hearing loss. Orthologous to several human genes including DIAPH2 (diaphanous related formin 2). [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 38E7-38E8; 2-54 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2L	NT_033779.5 (20758144..20768053)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2L	NT_033779.4 (20758144..20768053)

Chromosome 2L - NT_033779.5 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?

The actin polymerization factor Diaphanous and the actin severing protein Flightless I collaborate to regulate sarcomere size.
Title: The actin polymerization factor Diaphanous and the actin severing protein Flightless I collaborate to regulate sarcomere size.
The Arp2/3 complex and the formin, Diaphanous, are both required to regulate the size of germline ring canals in the developing egg chamber.
Title: The Arp2/3 complex and the formin, Diaphanous, are both required to regulate the size of germline ring canals in the developing egg chamber.
Using constitutively active Dia constructs, authors provide additional evidence that Dia functions upstream of SCAR activity to regulate actin dynamics at the fusion site and to localize the Abi-SCAR complex.
Title: Diaphanous regulates SCAR complex localization during Drosophila myoblast fusion.
Dia plays two roles during invasive podosome formation at the fusion site: it dictates the level of linear F-actin polymerization, and it is required for appropriate branched actin polymerization via localization of SCAR and WASp.
Title: The Formin Diaphanous Regulates Myoblast Fusion through Actin Polymerization and Arp2/3 Regulation.
Dia apical targeting also depends on binding to Rho1, which is critical for activation-induced conformational change, as well as physically anchoring Dia to the apical membrane
Title: Apical targeting of the formin Diaphanous in Drosophila tubular epithelia.
Cdc42 and the formins diaphanous and DAAM play pivotal roles in heart lumen formation through the spatiotemporal regulation of the actomyosin network.
Title: Cdc42 and formin activity control non-muscle myosin dynamics during Drosophila heart morphogenesis.
EnaEVH1 binds Dia directly and inhibits DiaFH1FH2-mediated nucleation in vitro
Title: Enabled negatively regulates diaphanous-driven actin dynamics in vitro and in vivo.
The F-BAR protein Cip4/Toca-1 antagonizes the formin Diaphanous in membrane stabilization and compartmentalization.
Title: The F-BAR protein Cip4/Toca-1 antagonizes the formin Diaphanous in membrane stabilization and compartmentalization.
Drosophila and vertebrate APCs exhibit highly related activities and mechanisms and directly collaborate with formins such as diaphanous.
Title: Drosophila homologues of adenomatous polyposis coli (APC) and the formin diaphanous collaborate by a conserved mechanism to stimulate actin filament assembly.
provide evidence that Dia and Myo-II control the initiation of E-cadherin endocytosis by regulating the lateral clustering of E-cadherin
Title: Spatial regulation of Dia and Myosin-II by RhoGEF2 controls initiation of E-cadherin endocytosis during epithelial morphogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dm0703 (e-PCR)
- UniSTS:17538

Homology

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in actomyosin contractile ring assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apical constriction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in assembly of apicomedial cortex actomyosin	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular component organization	IEA Inferred from Electronic Annotation more info
involved_in cellularization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of protein location in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiosis I cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiosis II cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanotic encapsulation of foreign target	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle, embryonic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in open tracheal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane tubulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pole cell formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pseudocleavage involved in syncytial blastoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actomyosin structure organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of embryonic cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in salivary gland morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in M band	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cytoneme	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
located_in vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: diaphanous

Names: CG1768-PA; CG1768-PB; CG1768-PC; CG1768-PD; CG1768-PE; dia-PA; dia-PB; dia-PC; dia-PD; dia-PE

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NT_033779.5 Reference assembly

Range

20758144..20768053

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001273711.1 → NP_001260640.1 diaphanous, isoform E [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001260640.1

Status: REVIEWED

UniProtKB/Swiss-Prot

P48608, Q5BI26, Q9VIJ7

UniProtKB/TrEMBL

D2NUK4, M9PDV1

Conserved Domains (3) summary

pfam02181
Location:601 → 976

FH2; Formin Homology 2 Domain

pfam06367
Location:246 → 446

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:59 → 241

Drf_GBD; Diaphanous GTPase-binding Domain
NM_057633.5 → NP_476981.1 diaphanous, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_476981.1

Status: REVIEWED

UniProtKB/Swiss-Prot

P48608, Q5BI26, Q9VIJ7

UniProtKB/TrEMBL

D2NUK4, M9PDV1

Related

FBpp0080940

Conserved Domains (3) summary

pfam02181
Location:601 → 976

FH2; Formin Homology 2 Domain

pfam06367
Location:246 → 446

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:59 → 241

Drf_GBD; Diaphanous GTPase-binding Domain
NM_165341.3 → NP_724285.1 diaphanous, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_724285.1

Status: REVIEWED

UniProtKB/Swiss-Prot

P48608, Q5BI26, Q9VIJ7

UniProtKB/TrEMBL

D2NUK4, M9PDV1

Related

FBpp0080941

Conserved Domains (3) summary

pfam02181
Location:601 → 976

FH2; Formin Homology 2 Domain

pfam06367
Location:246 → 446

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:59 → 241

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001259184.1 → NP_001246113.1 diaphanous, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001246113.1

Status: REVIEWED

UniProtKB/TrEMBL

D2NUK4, M9NCZ5

Conserved Domains (3) summary

pfam02181
Location:608 → 983

FH2; Formin Homology 2 Domain

pfam06367
Location:253 → 453

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:66 → 248

Drf_GBD; Diaphanous GTPase-binding Domain
NM_001259183.1 → NP_001246112.1 diaphanous, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001246112.1

Status: REVIEWED

UniProtKB/TrEMBL

D1Z399

Conserved Domains (1) summary

pfam06371
Location:66 → 114

Drf_GBD; Diaphanous GTPase-binding Domain