LETM1 Gene Summary [Human]
This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | LETM1 |
| Official Name | leucine zipper and EF-hand containing transmembrane protein 1 [Source:HGNC Symbol;Acc:HGNC:6556] |
| Ensembl ID | ENSG00000168924 |
| Bio databases IDs | |
| Aliases | leucine zipper and EF-hand containing transmembrane protein 1, Mdm38 homolog (yeast) |
| Synonyms | CONDMIM, KHE, leucine zipper and EF-hand containing transmembrane protein 1, leucine zipper-EF-hand containing transmembrane protein 1, Mdm38, SLC55A1 |
| 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 LETM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium:hydrogen antiporter
- LETM1-like, RBD
- calcium ion binding
- protein binding
- transporter
- Dockerin repeat domains and domains resembling dockerin repeats
Pathways
Biological processes and signaling networks where the LETM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cervical cancer
- breast cancer
- lung cancer
- liver cancer
- esophageal cancer
- gastric cancer
- ovarian cancer
- childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction
- colon cancer
- Wolf-Hirschhorn syndrome
role in cell
- expression in
- production in
- activation in
- phosphorylation in
- cell death
- formation
- mass
- cell cycle progression
- autophagy by
- inactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- Nucleus
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
- growth cone
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LETM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cristae formation
- reduction of mitochondrial calcium ion concentration
- mitochondrial calcium ion homeostasis
- calcium ion transport
- protein homooligomerization
- regulation of cellular hyperosmotic salinity response
- protein hexamerization
- inner mitochondrial membrane organization
- cellular cation homeostasis
- mitochondrial calcium ion transport
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ribosome binding
- calcium ion binding
- calcium:hydrogen antiporter activity