Version 5.4
Homo sapiens Protein: TMEM43
Summary
InnateDB Protein IDBP-19952.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM43
Protein Name transmembrane protein 43
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000303992
InnateDB Gene IDBG-19950 (TMEM43)
Protein Structure
UniProt Annotation
Function May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). {ECO:0000250}.
Subcellular Localization Endoplasmic reticulum {ECO:0000250}. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B- lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}.
Disease Associations Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269PubMed:18313022}. Note=The disease is caused by mutations affecting the gene represented in this entry.Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269PubMed:21391237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269PubMed:18230648}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 13 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005637 nuclear inner membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR012430 Transmembrane protein 43 family
PFAM PF07787
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BTV4
PhosphoSite PhosphoSite-Q9BTV4
TrEMBL A0A024R2F9
UniProt Splice Variant
Entrez Gene 79188
UniGene Hs.517817
RefSeq NP_077310
HUGO HGNC:28472
OMIM 612048
CCDS CCDS2618
HPRD 15541
IMGT
EMBL AK027466 AK027757 AK027827 AK027877 AK075010 AL136916 AY358625 BC003125 BC008054 BC011719 CH471055
GenPept AAH03125 AAH08054 AAH11719 AAQ88988 BAB55131 BAB55348 BAB55396 BAB55425 BAC11350 CAB66850 EAW64184 EAW64185 EAW64187

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