CMTM1
CKLF-like MARVEL transmembrane domain-containing protein 1
Gene Information Card
| Symbol | CMTM1 |
|---|---|
| Full Name | CKLF-like MARVEL transmembrane domain-containing protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 11317 ncbi.nlm.nih.gov/gene/11317 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9H2L5 |
| OMIM ID | 607885 |
| HGNC ID | 19177 |
| Aliases | CKLFSF1, CKLF-like MARVEL transmembrane domain-containing protein 1 |
Description
CMTM1 (CKLF-like MARVEL transmembrane domain-containing protein 1) is a member of the CMTM gene family, which encodes proteins with a MARVEL domain involved in vesicle trafficking and membrane dynamics. The gene is located on chromosome 16q21 and is expressed in various tissues, with roles in immune regulation, cell migration, and tumorigenesis. CMTM1 has been implicated in several cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | CMTM1 overexpression promotes cell proliferation and metastasis via activation of PI3K/AKT signaling | PMID: 31289472 |
| Gastric cancer | Downregulation of CMTM1 correlates with poor prognosis and increased invasion | PMID: 27566582 |
| Rheumatoid arthritis | CMTM1 expression is elevated in synovial tissues and may contribute to inflammation | PMID: 25605246 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 4.1 | Low |
| Brain | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| MCF7 | 5.2 | Breast cancer cell line |
| K562 | 3.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256G>A (p.Gly86Arg) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CMTM1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CMTM1.
Dominant Negative (DN)
No dominant-negative mutations described for CMTM1.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • protein binding (GO:0005515) | • membrane raft (GO:0045121) |
| • signal transduction (GO:0007165) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
CMTM1 is a transmembrane protein containing a MARVEL domain, which is implicated in membrane apposition and vesicle trafficking. It is involved in cell migration, immune modulation, and tumor progression. The protein is localized to the plasma membrane and membrane rafts, and interacts with signaling molecules such as PI3K. CMTM1 is differentially expressed in various cancers and may serve as a biomarker or therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMTM1 Knockout HEK293 Cell Line | EDJ-KQ7425 | Human | 113540 | Details Get a Quote |
| CMTM1 Knockout A-549 Cell Line | EDJ-KQ32619 | Human | 113540 | Details Get a Quote |
| CMTM1 Knockout HCT 116 Cell Line | EDJ-KQ32620 | Human | 113540 | Details Get a Quote |
| CMTM1 Knockout HeLa Cell Line | EDJ-KQ32621 | Human | 113540 | Details Get a Quote |
| CKLF-CMTM1 Knockout HEK293 Cell Line | EDJ-KQ52498 | Human | 100529251 | Details Get a Quote |
| CKLF-CMTM1 Knockout HeLa Cell Line | EDJ-KQ60961 | Human | 100529251 | Details Get a Quote |
| CKLF-CMTM1 Knockout A-549 Cell Line | EDJ-KQ69436 | Human | 100529251 | Details Get a Quote |
| CKLF-CMTM1 Knockout HCT 116 Cell Line | EDJ-KQ77787 | Human | 100529251 | Details Get a Quote |
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