Version 5.4
Homo sapiens Protein: SYNE4
Summary
InnateDB Protein IDBP-46113.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SYNE4
Protein Name chromosome 19 open reading frame 46
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000343152
InnateDB Gene IDBG-46109 (SYNE4)
Protein Structure
UniProt Annotation
Function As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus outer membrane {ECO:0000269PubMed:23348741}; Single-pass type IV membrane protein {ECO:0000269PubMed:23348741}. Note=Localization at the nucleus outer membrane requires the presence of SUN1. {ECO:0000250}.
Disease Associations Deafness, autosomal recessive, 76 (DFNB76) [MIM:615540]: A form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. {ECO:0000269PubMed:23348741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
Biological Process
GO:0045198 establishment of epithelial cell apical/basal polarity
Cellular Component
GO:0016021 integral component of membrane
GO:0031309 integral to nuclear outer membrane
Protein Structure and Domains
PDB ID
InterPro IPR012315 KASH domain
PFAM PF10541
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N205
PhosphoSite PhosphoSite-Q8N205
TrEMBL
UniProt Splice Variant
Entrez Gene 163183
UniGene Hs.436743
RefSeq NP_001284664
HUGO HGNC:26703
OMIM 615535
CCDS
HPRD 08776
IMGT
EMBL AC002116 AF038458 AK093764 BC052573
GenPept AAH52573 BAC04222

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