SEC23IP: SEC23 Interacting Protein
A key regulator of COPII vesicle trafficking and ER-to-Golgi transport
Gene Information Card
| Symbol | SEC23IP |
|---|---|
| Full Name | SEC23 interacting protein |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 11196 ncbi.nlm.nih.gov/gene/11196 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9Y6Y8 |
| OMIM ID | 611718 |
| HGNC ID | 10701 |
| Aliases | P125, MSTP053, SEC23IP1 |
Description
SEC23IP (SEC23 interacting protein) encodes a protein that interacts with SEC23, a component of the COPII coat complex involved in vesicle trafficking from the endoplasmic reticulum to the Golgi apparatus. The protein is thought to regulate COPII vesicle formation and cargo selection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown |
| c.567G>A (p.Gly189Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported
Gain of Function (GOF)
No confirmed gain-of-function mutations reported
Dominant Negative (DN)
No confirmed dominant-negative mutations reported
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • vesicle-mediated transport (GO:0016192) |
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
| • protein binding (GO:0005515) |
Pathways
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
Protein Summary
SEC23IP is a 125 kDa protein that localizes to the endoplasmic reticulum and Golgi apparatus. It interacts with SEC23, a GTPase-activating protein for SAR1, and may modulate COPII coat assembly. The protein contains a coiled-coil domain and is involved in cargo selection during ER-to-Golgi transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC23IP Knockout HEK293 Cell Line | EDJ-KQ7328 | Human | 11196 | Details Get a Quote |
| SEC23IP Knockout A-549 Cell Line | EDJ-KQ32407 | Human | 11196 | Details Get a Quote |
| SEC23IP Knockout HCT 116 Cell Line | EDJ-KQ32408 | Human | 11196 | Details Get a Quote |
| SEC23IP Knockout HeLa Cell Line | EDJ-KQ32409 | Human | 11196 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
