Version 5.4
Homo sapiens Protein: TMEM5
Summary
InnateDB Protein IDBP-44703.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM5
Protein Name transmembrane protein 5
Synonyms HP10481; MDDGA10;
Species Homo sapiens
Ensembl Protein ENSP00000261234
InnateDB Gene IDBG-44701 (TMEM5)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
Disease Associations Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:23217329, ECO:0000269PubMed:23519211}. 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 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 1 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR004263 Exostosin-like
PFAM PF03016
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2B1
PhosphoSite PhosphoSite-Q9Y2B1
TrEMBL G3V1K2
UniProt Splice Variant
Entrez Gene 10329
UniGene Hs.716859
RefSeq NP_055069
HUGO HGNC:13530
OMIM 605862
CCDS CCDS8966
HPRD 12057
IMGT
EMBL AB015633 AC084357 AK289382 BC002596 BC013152 CH471054
GenPept AAH02596 AAH13152 BAA76500 BAF82071 EAW97120 EAW97121

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