Human Gene SEC31A (ENST00000448323.5) from GENCODE V44
Description: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity). (from UniProt O94979) RefSeq Summary (NM_001318119): 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]. Gencode Transcript: ENST00000448323.5 Gencode Gene: ENSG00000138674.17 Transcript (Including UTRs) Position: hg38 chr4:82,818,662-82,891,266 Size: 72,605 Total Exon Count: 27 Strand: - Coding Region Position: hg38 chr4:82,819,074-82,881,936 Size: 62,863 Coding Exon Count: 26
ID:SC31A_HUMAN DESCRIPTION: RecName: Full=Protein transport protein Sec31A; AltName: Full=ABP125; AltName: Full=ABP130; AltName: Full=SEC31-like protein 1; AltName: Full=SEC31-related protein A; AltName: Full=Web1-like protein; FUNCTION: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity). SUBUNIT: COPII is composed of at least 5 proteins: the SEC23/24 complex, the SEC13/31 complex and SAR1. SEC13 and SEC31 make a 2:2 tetramer that forms the edge element of the COPII outer coat. The tetramer self-assembles in multiple copies to form the complete polyhedral cage. Interacts (via WD 8) with SEC13 (By similarity). Interacts with PDCD6 in a calcium-dependent manner. Interacts with KLHL12. INTERACTION: O75340:PDCD6; NbExp=6; IntAct=EBI-1767898, EBI-352915; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Note=Associates with membranes in a GTP-dependent manner (By similarity). TISSUE SPECIFICITY: Abundantly and ubiquitously expressed. PTM: Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats. DISEASE: Note=A chromosomal aberration involving SEC31A is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;4)(p23;q21) with ALK. SIMILARITY: Belongs to the WD repeat SEC31 family. SIMILARITY: Contains 8 WD repeats. SEQUENCE CAUTION: Sequence=AAF28953.1; Type=Frameshift; Positions=857, 1079; Sequence=AAF29012.1; Type=Frameshift; Positions=922, 946, 1029, 1080; Sequence=CAI45995.1; Type=Erroneous termination; Positions=221; Note=Translated as Trp;
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 O94979
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0048306 calcium-dependent protein binding
Biological Process: GO:0002474 antigen processing and presentation of peptide antigen via MHC class I 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:0036498 IRE1-mediated unfolded protein response GO:0048208 COPII vesicle coating GO:0051592 response to calcium ion GO:0090110 cargo loading into COPII-coated vesicle
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