EMC3: ER Membrane Protein Complex Subunit 3
Essential component of the ER membrane protein complex involved in transmembrane protein insertion and quality control.
Gene Information Card
| Symbol | EMC3 |
|---|---|
| Full Name | ER membrane protein complex subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 114916 ncbi.nlm.nih.gov/gene/114916 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9P0I2 |
| OMIM ID | 617565 |
| HGNC ID | 28987 |
| Aliases | TMEM111, UNQ1887/PRO4332 |
Description
EMC3 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), a multi-protein complex that facilitates the insertion of newly synthesized transmembrane proteins into the ER membrane. The EMC is also involved in protein quality control, ER-associated degradation (ERAD), and maintenance of ER homeostasis. EMC3 is essential for proper folding and stability of membrane proteins, and its dysfunction has been linked to cellular stress and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| EMC3-related disorder (neurodevelopmental delay, hypotonia, dysmorphic features) | Loss-of-function mutations impair EMC complex assembly, leading to defective membrane protein insertion and ER stress | ClinVar, OMIM #617565 |
| Congenital disorder of glycosylation (type II) | Disrupted EMC function affects glycosylation of membrane proteins | UniProt, literature |
| Cancer (various types) | Altered EMC3 expression may contribute to tumorigenesis via ER stress and unfolded protein response | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
| Pancreas | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 8.1 | 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.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging, disrupts protein folding |
| c.602_603del (p.Glu201Glyfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported EMC3 mutations are loss-of-function, leading to reduced EMC complex activity and impaired membrane protein insertion.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EMC3.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by disrupting EMC complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ER membrane protein complex (EMC) pathway
• Unfolded protein response (UPR)
• ER-associated degradation (ERAD)
Protein Summary
EMC3 is a 261-amino acid protein with a single transmembrane domain, localized to the ER membrane. It is a core component of the EMC, which acts as a chaperone for transmembrane domain insertion. The protein interacts with other EMC subunits (e.g., EMC1, EMC2) and is conserved across eukaryotes. Structural studies suggest EMC3 forms part of the central channel for substrate translocation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC3 Knockout HEK293 Cell Line | EDJ-KQ51477 | Human | 55831 | Details Get a Quote |
| EMC3 Knockout HeLa Cell Line | EDJ-KQ56642 | Human | 55831 | Details Get a Quote |
| EMC3 Knockout A-549 Cell Line | EDJ-KQ65147 | Human | 55831 | Details Get a Quote |
| EMC3 Knockout HCT 116 Cell Line | EDJ-KQ73583 | Human | 55831 | Details Get a Quote |
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