EMC10: Endoplasmic Reticulum Membrane Protein Complex Subunit 10
A key component of the ER membrane protein complex involved in protein insertion and cellular stress responses.
Gene Information Card
| Symbol | EMC10 |
|---|---|
| Full Name | ER membrane protein complex subunit 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 284361 ncbi.nlm.nih.gov/gene/284361 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q5UCC4 |
| OMIM ID | 616894 |
| HGNC ID | 28987 |
| Aliases | C19orf63, HSS1, INM02, PNAS-137 |
Description
EMC10 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), which facilitates the insertion of tail-anchored and multi-pass transmembrane proteins into the ER membrane. The protein is involved in protein quality control, ER stress response, and cellular homeostasis. Alternative splicing yields multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Impaired ER protein insertion leading to ER stress and neuronal dysfunction | ClinVar, OMIM |
| Hereditary spastic paraplegia | Disrupted EMC function affecting axonal transport and ER morphology | ClinVar, OMIM |
| Cancer (colorectal, breast) | Altered EMC10 expression affecting cell proliferation and apoptosis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Heart | 8.9 | Low |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.1 | Medium expression |
| K562 | 11.6 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | missense | 0.01% | Impaired protein folding and EMC assembly |
| c.502_503del (p.Leu168fs) | frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated or absent protein, impairing ER protein insertion.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg109Trp) may disrupt EMC complex assembly, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • ER membrane protein complex (GO:0072540) |
| • protein insertion into ER membrane (GO:0045047) | • response to ER stress (GO:0034976) |
| • protein binding (GO:0005515) |
Pathways
• ER membrane protein complex (EMC) pathway
• Unfolded protein response (UPR)
Protein Summary
EMC10 is a 25 kDa subunit of the ER membrane protein complex, localized to the ER membrane. It contains a single transmembrane domain and is essential for the biogenesis of tail-anchored and polytopic membrane proteins. The protein interacts with other EMC subunits to stabilize the complex and facilitate substrate insertion. EMC10 deficiency leads to ER stress and altered cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC10 Knockout HEK293 Cell Line | EDJ-KQ3238 | Human | 284361 | Details Get a Quote |
| EMC10 Knockout A-549 Cell Line | EDJ-KQ24750 | Human | 284361 | Details Get a Quote |
| EMC10 Knockout HCT 116 Cell Line | EDJ-KQ24751 | Human | 284361 | Details Get a Quote |
| EMC10 Knockout HeLa Cell Line | EDJ-KQ24752 | Human | 284361 | Details Get a Quote |
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