LETMD1
LETM1 Domain Containing 1
Gene Information Card
| Symbol | LETMD1 |
|---|---|
| Full Name | LETM1 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 25875 ncbi.nlm.nih.gov/gene/25875 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q6P1Q0 |
| OMIM ID | 612333 |
| HGNC ID | 18743 |
| Aliases | HCCR-1, HCCR, LETM1D1 |
Description
LETMD1 (LETM1 Domain Containing 1) is a protein-coding gene located on chromosome 12q13.12. It encodes a mitochondrial inner membrane protein involved in calcium homeostasis and mitochondrial morphology. Overexpression has been reported in various cancers, suggesting a role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cervical cancer | Overexpression promotes cell proliferation and inhibits apoptosis | PMID: 15674384 |
| Breast cancer | Upregulated; associated with poor prognosis | PMID: 16936731 |
| Hepatocellular carcinoma | High expression correlates with metastasis and recurrence | PMID: 17634561 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Liver | 8.7 | Low |
| Breast | 6.2 | Low |
| Cervix | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| HepG2 | 11.0 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T | Missense | 0.02% | p.Arg163Trp; uncertain significance |
| c.1024G>A | Missense | 0.01% | p.Val342Met; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Calcium ion binding |
| • Mitochondrial calcium ion homeostasis |
Pathways
• Mitochondrial calcium transport
Protein Summary
LETMD1 is a 417-amino acid protein localized to the mitochondrial inner membrane. It contains a LETM1 domain and is involved in maintaining mitochondrial calcium levels and cristae morphology. Overexpression in multiple cancer types implicates it in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LETMD1 Knockout HEK293 Cell Line | EDC08287 | Human | 25875 | Details Get a Quote |
| LETMD1 Knockout A-549 Cell Line | EDJ-KQ32905 | Human | 25875 | Details Get a Quote |
| LETMD1 Knockout HCT 116 Cell Line | EDJ-KQ34225 | Human | 25875 | Details Get a Quote |
| LETMD1 Knockout HeLa Cell Line | EDJ-KQ34226 | Human | 25875 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
