Aliases for SEC31A Gene
External Ids for SEC31A Gene
Previous HGNC Symbols for SEC31A Gene
Previous GeneCards Identifiers for SEC31A Gene
The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for SEC31A Gene
SEC31A (SEC31 Homolog A, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC31A include Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies and Pseudobulbar Palsy. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include calcium-dependent protein binding. An important paralog of this gene is SEC31B.
UniProtKB/Swiss-Prot Summary for SEC31A Gene
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).