Version 5.4
Homo sapiens Gene: DIAPH1
Summary
InnateDB Gene IDBG-50631.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DIAPH1
Gene Name diaphanous homolog 1 (Drosophila)
Synonyms DFNA1; DIA1; DRF1; hDIA1; LFHL1
Species Homo sapiens
Ensembl Gene ENSG00000131504
Encoded Proteins
IDBP-50633
diaphanous homolog 1 (Drosophila)
IDBP-50635
diaphanous homolog 1 (Drosophila)
IDBP-50637
diaphanous homolog 1 (Drosophila)
IDBP-232742
diaphanous homolog 1 (Drosophila)
IDBP-378988
diaphanous homolog 1 (Drosophila)
IDBP-474141
diaphanous homolog 1 (Drosophila)
IDBP-483580
diaphanous homolog 1 (Drosophila)
IDBP-473783
diaphanous homolog 1 (Drosophila)
IDBP-478095
diaphanous homolog 1 (Drosophila)
IDBP-476140
diaphanous homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:141515016-141619055
Strand Reverse strand
Band q31.3
Transcripts
ENST00000253811 ENSP00000253811
ENST00000389057 ENSP00000373709
ENST00000389054 ENSP00000373706
ENST00000398557 ENSP00000381565
ENST00000448451 ENSP00000408159
ENST00000476339
ENST00000520569 ENSP00000429282
ENST00000518047 ENSP00000428268
ENST00000468119
ENST00000521457 ENSP00000427880
ENST00000491754
ENST00000494967
ENST00000518484
ENST00000523100 ENSP00000428208
ENST00000472516
ENST00000524301 ENSP00000430587
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 41 [view]
Protein-Protein 41 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003779 actin binding
GO:0005102 receptor binding
GO:0005488 binding
GO:0005515 protein binding
GO:0005522 profilin binding
GO:0017048 Rho GTPase binding
GO:0044325 ion channel binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0007010 cytoskeleton organization
GO:0007605 sensory perception of sound
GO:0008360 regulation of cell shape
GO:0016043 cellular component organization
GO:0030036 actin cytoskeleton organization
GO:0030041 actin filament polymerization
GO:0030335 positive regulation of cell migration
GO:0032886 regulation of microtubule-based process
GO:0035372 protein localization to microtubule
GO:0051279 regulation of release of sequestered calcium ion into cytosol
GO:0071420 cellular response to histamine
Cellular Component
GO:0005737 cytoplasm
GO:0032587 ruffle membrane
GO:0072686 mitotic spindle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024456
View Gene Order
ENSBTAG00000030499
Not yet available
Pathways
NETPATH
NetPath_11
TCR pathway
REACTOME
KEGG
hsa04810
Regulation of actin cytoskeleton pathway
hsa04510
Focal adhesion pathway
hsa05131
Shigellosis pathway
INOH
PID NCI
ilk_pathway
Integrin-linked kinase signaling
rhoa_pathway
RhoA signaling pathway
ecadherin_stabilization_pathway
Stabilization and expansion of the E-cadherin adherens junction
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.529451 Hs.602216 Hs.707083
RefSeq NM_001079812 NM_005219
HUGO
OMIM
CCDS
HPRD 03670
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