Version 5.4
Homo sapiens Gene: DIAPH3
Summary
InnateDB Gene IDBG-36429.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DIAPH3
Gene Name diaphanous homolog 3 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000139734
Encoded Proteins
IDBP-36433
diaphanous homolog 3 (Drosophila)
IDBP-36435
diaphanous homolog 3 (Drosophila)
IDBP-228491
diaphanous homolog 3 (Drosophila)
IDBP-228493
diaphanous homolog 3 (Drosophila)
IDBP-228495
diaphanous homolog 3 (Drosophila)
IDBP-812312
diaphanous-related formin 3
IDBP-812313
diaphanous-related formin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:59665583-60163987
Strand Reverse strand
Band q21.2
Transcripts
ENST00000377908 ENSP00000367141
ENST00000267215 ENSP00000267215
ENST00000400324 ENSP00000383178
ENST00000400320 ENSP00000383174
ENST00000400319 ENSP00000383173
ENST00000470420
ENST00000465066 ENSP00000478137
ENST00000498416 ENSP00000479091
ENST00000615942
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005488 binding
GO:0017048 Rho GTPase binding
Biological Process
GO:0007283 spermatogenesis
GO:0016043 cellular component organization
GO:0030036 actin cytoskeleton organization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022021
View Gene Order
ENSBTAG00000012443
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04810
Regulation of actin cytoskeleton pathway
INOH
PID NCI
erbb1_downstream_pathway
ErbB1 downstream signaling
cdc42_pathway
CDC42 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.283127 Hs.666705 Hs.695151
RefSeq NM_001042517 NM_001258366 NM_001258367 NM_001258368 NM_001258369 NM_001258370 NM_030932 XM_006719876
HUGO
OMIM
CCDS CCDS41898 CCDS58294 CCDS58295 CCDS58296 CCDS58297 CCDS73579 CCDS73580
HPRD 10884
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca