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MGP004261

UniProt Annotations

Entry Information
Gene NameSec23 homolog A (S. cerevisiae)
Protein EntrySC23A_HUMAN
UniProt IDQ15436
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15436-1; Sequence=Displayed; Name=2; IsoId=Q15436-2; Sequence=VSP_056230; Note=No experimental confirmation available.;
DiseaseCraniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269|PubMed:16980979}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionComponent 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.
InteractionQ00536:CDK16; NbExp=3; IntAct=EBI-81088, EBI-726261; P53992:SEC24C; NbExp=5; IntAct=EBI-81088, EBI-81134;
SimilarityBelongs to the SEC23/SEC24 family. SEC23 subfamily. {ECO:0000305}.
Subcellular LocationSmooth endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=In the ribosome-free transitional face of the ER and associated vesicles.
SubunitCOPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. Interacts with SEC23IP. Interacts with HTR4 (By similarity). Interacts with SLC6A4 (By similarity). Interacts with SEC16A. {ECO:0000250, ECO:0000269|PubMed:17192411}.
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