EMC1 Gene Summary [Human]
This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | EMC1 |
| Official Name | ER membrane protein complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:28957] |
| Ensembl ID | ENSG00000127463 |
| Bio databases IDs | |
| Aliases | ER membrane protein complex subunit 1 |
| Synonyms | 2700016F22Rik, CAVIPMR, ER membrane protein complex subunit 1, KIAA0090, RGD1310427 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EMC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ER membrane protein complex subunit 1, C-terminal
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- obesity
- retinal dystrophy
- cerebellar atrophy, visual impairment, and psychomotor retardation
- COVID-19
- complex neurodevelopmental disorder with motor features
- autosomal recessive retinitis pigmentosa
- papillary thyroid carcinoma
- papillary thyroid cancer
- congenital anomalies of kidney and urinary tract
regulates
role in cell
- expression in
- cell viability
- dipeptide repeat protein sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EMC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein insertion into ER membrane by stop-transfer membrane-anchor sequence
- tail-anchored membrane protein insertion into ER membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- ER membrane protein complex
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- membrane insertase activity
- protein binding