Protein transport protein Sec23A
Domain
The Gelsolin-like repeat mediates interaction with proteins containing PPP motifs that include MIA2, MIA3 but also SEC31A. These interactions are probably competitive.
Function
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity).
Involvement in disease
Craniolenticulosutural dysplasia
CLSD
Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SEC23/SEC24 family. SEC23 subfamily.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Cytoplasmic vesicle
- COPII-coated vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- Endoplasmic reticulum membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cytosol
- Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER).
Alternative names
Protein transport protein Sec23A, hSec23A, SEC23-related protein A, SEC23A