Version 5.4
Homo sapiens Protein: ELMOD3
Summary
InnateDB Protein IDBP-295405.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELMOD3
Protein Name ELMO/CED-12 domain containing 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000386248
InnateDB Gene IDBG-59019 (ELMOD3)
Protein Structure
UniProt Annotation
Function Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. {ECO:0000269PubMed:24039609}.
Subcellular Localization Cell projection, stereocilium {ECO:0000269PubMed:24039609}. Cell projection, kinocilium {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:24039609}. Note=Also present in the cuticular plate of auditory hair cells. Expressed along the length of the stereocilia, but excluded from the very tip (By similarity). Colocalizes with F-actin cytoskeleton. {ECO:0000250}.
Disease Associations Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]: A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. {ECO:0000269PubMed:24039609}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Both isoform 1 and isoform 6 are widely expressed. {ECO:0000269PubMed:24039609}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006909 phagocytosis
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0032420 stereocilium
GO:0060091 kinocilium
Protein Structure and Domains
PDB ID
InterPro IPR006816 Engulfment/cell motility, ELMO
PFAM PF04727
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96FG2
PhosphoSite PhosphoSite-Q96FG2
TrEMBL E9PI96
UniProt Splice Variant
Entrez Gene 84173
UniGene Hs.269990
RefSeq NP_001128493
HUGO HGNC:26158
OMIM 615427
CCDS CCDS46352
HPRD 07973
IMGT
EMBL AC062037 AF258573 AK025630 AL713718 BC001942 BC010991 BC018666 BC112324 CH471053 DQ256726 DQ256727
GenPept AAG23776 AAH01942 AAH10991 AAH18666 AAI12325 AAY24127 ABB69067 ABB69068 BAB15195 CAD28512 EAW99521 EAW99522 EAW99523 EAW99526 EAW99528

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