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 |
|---|---|---|---|---|---|
OMIM IDMIM:617852 Ensembl IDEnsembl:ENSG00000107651 HGNC IDHGNC:HGNC:17018 PHARMGKB IDPA134964657 Map Location10q26.11-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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SEC23IP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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