RBCC Red Blood Cell Collection

SC23A_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SEC23A
Protein names and data: SC23A_HUMAN , Protein transport protein Sec23A , SEC23-related protein A Lenght: 765 a.a.
Mass: 86161 Da
fasta formatted sequence
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.
Disease: ( OMIM: 607812 610511 ) Craniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Smooth endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein (Potential). Note=In the ribosome-free transitional face of the ER and associated vesicles.

Genetic variants

211 - 211 L -> V (in dbSNP:rs8018720). VAR_031029 8018720
382 - 382 F -> L (in CLSD; loss of function mutation; cargo proteins retained in the endoplasmic reticulum). VAR_031030

Database cross-references

UniProt: Q15436
Ensembl: ENST00000307712
MIM: 607812
MIM: 610511
neXtProt: NX_Q15436
Antibodypedia: Q15436 (may not find the protein thus also not any antibody)
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