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. [provided by RefSeq, Jul 2008]
Function:
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.
Subcellular Location:
Smooth endoplasmic reticulum membrane. Golgi apparatus membrane. In the ribosome-free transitional face of the ER and associated vesicles.
DISEASE:
Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:607812]; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.
Similarity:
Belongs to the SEC23/SEC24 family. SEC23 subfamily.
SWISS:
Q15436
Gene ID:
10484
Database links:
Entrez Gene: 10484 Human
Entrez Gene: 20334 Mouse
Entrez Gene: 58817 Rat
Entrez Gene: 406774 Zebrafish
Omim: 610511 Human
SwissProt: Q15436 Human
SwissProt: Q01405 Mouse
SwissProt: Q5R9P3 Orangutan
SwissProt: Q7SZE5 Zebrafish
Unigene: 272927 Human
Unigene: 33071 Zebrafish
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