LEMD1
LEM Domain Containing 1: A Nuclear Envelope Protein Implicated in Cancer and Development
Gene Information Card
| Symbol | LEMD1 |
|---|---|
| Full Name | LEM domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 93273 ncbi.nlm.nih.gov/gene/93273 |
| Ensembl ID | ENSG00000186094 |
| UniProt ID | Q8N7Z2 |
| OMIM ID | 612088 |
| HGNC ID | 28883 |
| Aliases | CTL-1, LEMD1, LEM domain-containing protein 1 |
Description
LEMD1 (LEM domain containing 1) encodes a nuclear envelope protein characterized by a LEM (LAP2-emerin-MAN1) domain. This domain mediates binding to the nuclear lamina and chromatin, playing roles in nuclear structure, gene regulation, and cell cycle progression. LEMD1 is overexpressed in several cancers and is considered a potential biomarker and therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of LEMD1 promotes tumor cell proliferation and invasion, possibly through chromatin remodeling and nuclear envelope interactions. | NCBI Gene, COSMIC |
| Lung cancer | Elevated LEMD1 expression correlates with poor prognosis and may drive oncogenic signaling. | NCBI Gene, COSMIC |
| Prostate cancer | LEMD1 is upregulated in prostate tumors and may contribute to androgen-independent growth. | NCBI Gene, COSMIC |
| Ovarian cancer | LEMD1 overexpression is associated with aggressive disease and chemoresistance. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| HCT116 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional impact |
| c.100C>T | missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in LEMD1.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described for LEMD1.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope (GO:0005635) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Not assigned to any specific KEGG or Reactome pathway.
Protein Summary
LEMD1 is a 454-amino acid nuclear envelope protein containing a single N-terminal LEM domain. It localizes to the inner nuclear membrane and interacts with lamins and chromatin. The protein is thought to regulate nuclear architecture and gene expression. LEMD1 is normally expressed at very low levels in most adult tissues but is aberrantly upregulated in multiple cancer types, where it may contribute to malignant progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEMD1 Knockout HEK293 Cell Line | EDJ-KQ11214 | Human | 93273 | Details Get a Quote |
| LEMD1 Knockout HeLa Cell Line | EDJ-KQ57860 | Human | 93273 | Details Get a Quote |
| LEMD1 Knockout A-549 Cell Line | EDJ-KQ66356 | Human | 93273 | Details Get a Quote |
| LEMD1 Knockout HCT 116 Cell Line | EDJ-KQ74779 | Human | 93273 | Details Get a Quote |
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