SEC23IP
Summary: This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SEC23 interacting protein | MIM:617852 | Ensembl:ENSG00000107651 | HGNC:HGNC:17018 | PA134964657 | 10q26.11-q26.12 |
Gene Categories:
PHOSPHOLIPASEGO terms in SEC23IP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0012507 | ER to Golgi transport vesicle membrane |
| CC | IBA | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | TAS | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | TAS | GO:0006886 | intracellular protein transport |
| BP | IBA | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | TAS | GO:0007030 | Golgi organization |
| BP | TAS | GO:0048208 | COPII vesicle coating |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0004620 | phospholipase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: SEC23IP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SEC23IP
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-204005 | COPII-mediated vesicle transport |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SEC23IP
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