Version 5.4
Homo sapiens Protein: TMEM138
Summary
InnateDB Protein IDBP-50118.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM138
Protein Name transmembrane protein 138
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000278826
InnateDB Gene IDBG-50116 (TMEM138)
Protein Structure
UniProt Annotation
Function Required for ciliogenesis. {ECO:0000269PubMed:22282472}.
Subcellular Localization Vacuole membrane {ECO:0000269PubMed:22282472}; Multi-pass membrane protein {ECO:0000269PubMed:22282472}. Cell projection, cilium {ECO:0000269PubMed:22282472}. Note=Localizes to vesicles en route to the base of cilium.
Disease Associations Joubert syndrome 16 (JBTS16) [MIM:614465]: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. {ECO:0000269PubMed:22282472}. 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 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0042384 cilium assembly
Cellular Component
GO:0005774 vacuolar membrane
GO:0005929 cilium
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NPI0
PhosphoSite PhosphoSite-
TrEMBL J3QSZ6
UniProt Splice Variant
Entrez Gene 51524
UniGene Hs.406530
RefSeq NP_057548
HUGO HGNC:26944
OMIM 614459
CCDS CCDS8005
HPRD 13713
IMGT
EMBL AF151030 AF151032 AK303219 AL832879 AP003108 BC005201
GenPept AAF36116 AAF36118 AAH05201 BAG64306 CAI46174

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