Human Gene SEC23A (ENST00000307712.11) from GENCODE V44
Description: Homo sapiens Sec23 homolog A, COPII coat complex component (SEC23A), mRNA. (from RefSeq NM_006364) RefSeq Summary (NM_006364): 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]. Gencode Transcript: ENST00000307712.11 Gencode Gene: ENSG00000100934.15 Transcript (Including UTRs) Position: hg38 chr14:39,031,919-39,103,235 Size: 71,317 Total Exon Count: 20 Strand: - Coding Region Position: hg38 chr14:39,033,239-39,096,118 Size: 62,880 Coding Exon Count: 19
ID:SC23A_HUMAN DESCRIPTION: RecName: Full=Protein transport protein Sec23A; AltName: Full=SEC23-related protein A; 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. SUBUNIT: COPII 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. INTERACTION: Q00536:CDK16; NbExp=3; IntAct=EBI-81088, EBI-726261; P53992:SEC24C; NbExp=5; IntAct=EBI-81088, EBI-81134; SUBCELLULAR 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. 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15436
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002474 antigen processing and presentation of peptide antigen via MHC class I GO:0006886 intracellular protein transport GO:0006888 ER to Golgi vesicle-mediated transport GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0048208 COPII vesicle coating GO:0090110 cargo loading into COPII-coated vesicle GO:0090114 COPII-coated vesicle budding
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