HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CMTM1
CKLF like MARVEL transmembrane domain containing 1
Chromosome 16 · 16q21
NCBI Gene: 113540Ensembl: ENSG00000089505.18HGNC: HGNC:19172UniProt: E9PAX0
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranehepatocellular carcinomaneoplasmfacial morphologymastodynia
✦AI Summary

CMTM1 (CKLF-like MARVEL transmembrane domain containing 1) is a membrane-associated protein with multiple alternatively spliced isoforms that functions as a regulator of cell proliferation, apoptosis, and immune cell activity. The protein contains a MARVEL domain capable of activating and directing immune cell chemotaxis 1. CMTM1 operates through calcium signaling mechanisms; specifically, the CMTM1-v5 isoform interacts with CAML (calcium-modulating cyclophilin ligand) to negatively regulate endoplasmic reticulum Ca2+ responses, triggering caspase activation and mitochondrial cytochrome c release 2. CMTM1 demonstrates context-dependent oncogenic roles across multiple cancer types. In lymphoma, CMTM1-v5 overexpression induces apoptosis in vitro and extends survival in xenograft models 2. Conversely, in glioblastoma, CMTM1 promotes tumor cell invasion and proliferation, with elevated expression correlating with shorter overall survival 3. In breast cancer, the CMTM1_v17 isoform enhances proliferation and confers TNF-α-induced apoptosis resistance 4, while in non-small cell lung cancer, CMTM1_v17 associates with chemotherapy resistance and poor prognosis following neoadjuvant chemotherapy 5. Recent evidence indicates CMTM1 expression correlates with M2 macrophage and regulatory T cell infiltration in esophageal carcinoma 6, suggesting immunomodulatory functions. These findings position CMTM1 isoforms as potential diagnostic biomarkers and therapeutic targets in multiple malignancies.

Sources cited
1
CMTM1-v5 isoform induces lymphoma cell apoptosis via interaction with CAML, regulating ER Ca2+ signaling and activating caspases
PMID: 31542285
2
CMTM1 promotes glioblastoma cell invasion and proliferation with elevated expression correlating to shorter survival
PMID: 25931111
3
CMTM1_v17 isoform promotes breast cancer cell proliferation and resistance to TNF-α-induced apoptosis
PMID: 25175386
4
CMTM1_v17 expression associates with chemotherapy resistance and poor prognosis in non-small cell lung cancer
PMID: 28129775
5
CMTM family proteins contain MARVEL domains that activate immune cells and are involved in tumor development
PMID: 37649636
6
CMTM1 expression correlates with M2 macrophage and regulatory T cell infiltration in esophageal carcinoma
PMID: 40179060
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.04Suggestive
facial morphologyOpen Targets
0.04Suggestive
mastodyniaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
papillary adenomaOpen Targets
0.01Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.00Suggestive
cirrhosis of liverOpen Targets
0.00Suggestive
esophageal adenocarcinomaOpen Targets
0.00Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
hepatitis B virus infectionOpen Targets
0.00Suggestive
tubular adenomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CMTM8Protein interaction97%CMTM4Protein interaction97%CMTM6Protein interaction82%CMTM7Protein interaction82%CMTM3Protein interaction76%CMTM5Protein interaction74%
Tissue Expression6 tissues
Lung
100%
Brain
96%
Ovary
88%
Heart
81%
Bone Marrow
62%
Liver
54%
Gene Interaction Network
Click a node to explore
CMTM1CMTM8CMTM4CMTM6CMTM7CMTM3CMTM5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IZ96
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.59 [0.36–1.04]
RankingsWhere CMTM1 stands among ~20K protein-coding genes
  • #16,139of 20,598
    Most Researched13
  • #10,343of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCMTM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A novel protein CMTM1-v5 specifically induced human lymphoma cells apoptosis in vitro and in vivo.
PMID: 31542285
Exp Cell Res · 2019
1.00
2
Systematic investigation of CMTM family genes suggests relevance to glioblastoma pathogenesis and CMTM1 and CMTM3 as priority targets.
PMID: 25931111
Genes Chromosomes Cancer · 2015
0.90
3
Current Opinions on the Relationship Between CMTM Family and Hepatocellular Carcinoma.
PMID: 37649636
J Hepatocell Carcinoma · 2023
0.80
4
CMTM1_v17 is a novel potential therapeutic target in breast cancer.
PMID: 25175386
Oncol Rep · 2014
0.70
5
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
PMID: 28237839
Mol Ther · 2017
0.60