InnateDB Protein
|
IDBP-594078.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
TMEM138
|
Protein Name
|
transmembrane protein 138
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000445792
|
InnateDB Gene
|
IDBG-50116 (TMEM138)
|
Protein Structure
|
|
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 |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NPI0
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
51524
|
UniGene |
Hs.406530
|
RefSeq |
XP_006718650
|
HUGO |
HGNC:26944
|
OMIM |
614459
|
CCDS |
|
HPRD |
13713
|
IMGT |
|
EMBL |
AF151030
AF151032
AK303219
AL832879
AP003108
BC005201
|
GenPept |
AAF36116
AAF36118
AAH05201
BAG64306
CAI46174
|
|
|