InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TMEM165

Summary

InnateDB Protein

IDBP-19349.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TMEM165

Protein Name

transmembrane protein 165

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000370736

InnateDB Gene

IDBG-19347 (TMEM165)

Protein Structure

UniProt Annotation

Function

May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation. {ECO:0000269PubMed:22683087, ECO:0000269PubMed:23569283}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans- Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane.

Disease Associations

Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:22683087, ECO:0000269PubMed:23430531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:22683087}.

Comments

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