SEC23A

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking.

Full Name

Sec23 homolog A, coat complex II component

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).

Biological Process

Biological Process COPII-coated vesicle cargo loadingManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process intracellular protein transportIEA:InterPro
Biological Process protein localization to plasma membraneIEA:Ensembl

Cellular Location

Cytoplasmic vesicle, COPII-coated vesicle membrane
Endoplasmic reticulum membrane
Cytoplasm, cytosol
Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER).

Involvement in disease

Craniolenticulosutural dysplasia (CLSD):
Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.