EMC1 Gene
ER Membrane Protein Complex Subunit 1
Gene Information Card
| Symbol | EMC1 |
|---|---|
| Full Name | ER Membrane Protein Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 23065 ncbi.nlm.nih.gov/gene/23065 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q8N766 |
| OMIM ID | 616888 |
| HGNC ID | 28957 |
| Aliases | KIAA0090, TTC5, ER membrane protein complex subunit 1 |
Description
The EMC1 gene encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), which is involved in the insertion of tail-anchored and multipass transmembrane proteins into the ER membrane. EMC1 is essential for proper protein biogenesis, ER homeostasis, and cellular stress responses. Mutations in EMC1 are associated with neurological disorders and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 108 (DEE108) | Loss-of-function mutations impair EMC complex assembly, leading to ER stress and neuronal dysfunction. | ClinVar, OMIM |
| Intellectual disability, autosomal recessive 69 (MRT69) | Homozygous missense variants disrupt EMC1 stability and protein insertion. | OMIM, PubMed |
| Cerebellar atrophy with seizures and developmental delay | Biallelic EMC1 mutations cause ER stress and Purkinje cell loss. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Pancreas | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Ubiquitous expression |
| SH-SY5Y | 11.2 | Neuronal model |
| HeLa | 9.8 | Cervical cancer line |
| HepG2 | 7.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Loss of function; associated with DEE108 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein produced |
| c.1580G>A (p.Arg527His) | Missense | Rare | Impaired EMC complex assembly |
| c.2023C>T (p.Arg675Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent EMC1 protein, disrupting EMC complex function and causing ER stress.
Gain of Function (GOF)
No gain-of-function mutations reported for EMC1.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ER membrane protein complex (EMC) pathway
• Tail-anchored protein insertion pathway
• Unfolded protein response (UPR)
Protein Summary
EMC1 is a 993-amino acid protein localized to the endoplasmic reticulum membrane. It is a core component of the EMC complex, which facilitates the insertion of transmembrane proteins into the ER membrane. The protein contains a conserved DUF1620 domain and is critical for maintaining ER homeostasis. Defects in EMC1 lead to ER stress and are linked to neurodevelopmental disorders.
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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