MARVELD1
MARVEL Domain Containing 1
Gene Information Card
| Symbol | MARVELD1 |
|---|---|
| Full Name | MARVEL Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 83742 ncbi.nlm.nih.gov/gene/83742 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9BSK0 |
| OMIM ID | 617064 |
| HGNC ID | 28972 |
| Aliases | MARVD1, MGC13170 |
Description
MARVELD1 (MARVEL Domain Containing 1) is a protein-coding gene located on chromosome 10q25.3. The encoded protein contains a MARVEL domain, which is involved in membrane apposition events such as tight junction formation and vesicle trafficking. MARVELD1 is implicated in cell adhesion, migration, and tumor suppression. Expression is observed in various tissues, and alterations have been linked to cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of MARVELD1 promotes epithelial-mesenchymal transition and metastasis | PMID: 25944712 |
| Gastric cancer | Reduced expression correlates with poor prognosis and increased invasion | PMID: 27323851 |
| Colorectal cancer | Loss of MARVELD1 expression associated with tumor progression | PMID: 28692042 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 3.8 | Low |
| Lung | 2.1 | Low |
| Breast | 1.5 | Not detected |
| Colon | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.1 | Hepatocellular carcinoma cell line |
| A549 | 3.0 | Lung adenocarcinoma cell line |
| MCF7 | 1.2 | Breast cancer cell line |
| HCT116 | 4.5 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.100C>T | nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005911 (GO:0005911) | • GO:0016021 (GO:0016021) |
| • GO:0007155 (GO:0007155) | • GO:0045216 (GO:0045216) |
Pathways
• Tight junction (KEGG:04530)
• Cell adhesion molecules (KEGG:04514)
Protein Summary
The MARVELD1 protein (UniProt Q9BSK0) contains a MARVEL domain and is localized to cell membranes, particularly at tight junctions. It plays a role in cell-cell adhesion and may function as a tumor suppressor by regulating epithelial-mesenchymal transition. Expression is reduced in several cancers, correlating with metastatic potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARVELD1 Knockout HEK293 Cell Line | EDJ-KQ2811 | Human | 83742 | Details Get a Quote |
| MARVELD1 Knockout A-549 Cell Line | EDJ-KQ23763 | Human | 83742 | Details Get a Quote |
| MARVELD1 Knockout HCT 116 Cell Line | EDJ-KQ23764 | Human | 83742 | Details Get a Quote |
| MARVELD1 Knockout HeLa Cell Line | EDJ-KQ23765 | Human | 83742 | Details Get a Quote |
