STX5
Function
Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus.
Isoform 2
Required for Golgi to endoplasmic reticulum retrogade transport, and for intra-Golgi transport.
(Microbial infection) Required for the efficient production of infectious virion during human cytomegalovirus infection. Mechanistically, participates in the formation of the cytoplasmic viral assembly compartment where tegument acquisition and envelopment occur.
Involvement in disease
Congenital disorder of glycosylation 2AA
CDG2AA
A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2AA is an autosomal recessive, early fatal form characterized by severe liver disease, skeletal abnormalities, and protein glycosylation defects.
None
The disease may be caused by variants affecting the gene represented in this entry. A likely pathogenic nucleotide substitution affecting the translation initiation codon of isoform 2 has been found in a CDG2AA family, and fully abrogates isoform 2 production. Loss of isoform 2 results in altered morphology of the endoplasmic reticulum and Golgi apparatus, compromised intra-Golgi trafficking, mislocalization of glycosyltransferases, and protein glycosylation defects.
Sequence Similarities
Belongs to the syntaxin family.
Cellular localization
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Single-pass type IV membrane protein
- Golgi apparatus membrane
- Localizes throughout the Golgi apparatus, but most abundant in the cis-most cisternae.
Alternative names
STX5A, STX5, Syntaxin-5