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
diaphanous homolog 3 (Drosophila)
diaphanous homolog 3 (Drosophila)
diaphanous homolog 3 (Drosophila)
diaphanous homolog 3 (Drosophila)
diaphanous homolog 3 (Drosophila)
diaphanous-related formin 3
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Regulation of actin cytoskeleton pathway
INOH
PID BIOCARTA
PID NCI
ErbB1 downstream signaling
CDC42 signaling events
Cross-References
SwissProt Q9NSV4
TrEMBL
UniProt Splice Variant
Entrez Gene 81624
UniGene Hs.283127 Hs.666705 Hs.695151
RefSeq NM_001258366 NM_001042517 NM_001258367 NM_001258368 NM_001258369 NM_001258370 NM_030932 XM_006719876
HUGO HGNC:15480
OMIM 614567
CCDS CCDS58296 CCDS41898 CCDS58294 CCDS58295 CCDS58297 CCDS73579 CCDS73580
HPRD 10884
IMGT
EMBL AB244756 AB244757 AB244758 AK092024 AL137718 AL354829 AL356502 AL359266 AL390878 AY750055 AY818645 BC034952 BC048963 BC068504 BX649186
GenPept AAH34952 AAH48963 AAH68504 AAW73254 AAW78862 BAC03793 BAE96350 BAE96351 BAE96352 CAB70890 CAE46204 CAI14102 CAI14158 CAI39756 CAI39757 CAM14265 CAM14266 CAM14267 CAM15403 CAM15404 CAM15405 CAM15406 CAM19398 CAM19399 CAM19400 CAM19401 CAM19738 CAM19739 CAM19740 CAM19741
RNA Seq Atlas 81624