Homo sapiens Gene: TMEM165
Summary
InnateDB Gene IDBG-19347.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM165
Gene Name transmembrane protein 165
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000134851
Encoded Proteins
transmembrane protein 165
transmembrane protein 165
transmembrane protein 165
transmembrane protein 165
transmembrane protein 165
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:55395957-55453397
Strand Forward strand
Band q12
Transcripts
ENST00000381334 ENSP00000370736
ENST00000506198 ENSP00000425449
ENST00000508404 ENSP00000422639
ENST00000514070
ENST00000511710
ENST00000502797
ENST00000514904
ENST00000508561
ENST00000509575
ENST00000506103 ENSP00000476621
ENST00000515591
ENST00000608091 ENSP00000476531
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006487 protein N-linked glycosylation
GO:0006874 cellular calcium ion homeostasis
GO:0032472 Golgi calcium ion transport
GO:0035751 regulation of lysosomal lumen pH
Cellular Component
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0032588 trans-Golgi network membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.479766 Hs.603333
RefSeq NM_018475
HUGO
OMIM
CCDS CCDS3499
HPRD 18216
IMGT
EMBL
GenPept
RNA Seq Atlas