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.
MTCP1
mature T cell proliferation 1
Chromosome X · Xq28
NCBI Gene: 4515Ensembl: ENSG00000214827.12HGNC: HGNC:7423UniProt: P56278
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase bindingprotein serine/threonine kinase activator activityintracellular signal transductionOvarian Endometrioid Adenocarcinoma with Squamous DifferentiationHepatobiliary Neoplasmlymphoid neoplasmpancreatic ductal adenocarcinoma
✦AI Summary

MTCP1 (mature T cell proliferation 1) is an oncogene located on chromosome X that functions as a protein kinase activator, specifically enhancing phosphorylation and activation of AKT1 and AKT2 kinases. The gene plays a critical role in cellular proliferation and differentiation, with overexpression inducing increased cell proliferation and partial blockage of cell differentiation 1. MTCP1 is most notably associated with T-cell prolymphocytic leukemia (T-PLL), where chrX translocations involving T-cell receptor genes activate MTCP1 expression and contribute to disease pathogenesis 2. The gene can be activated through various mechanisms, including t(X;7) translocations that juxtapose TCRB segments to MTCP1, activating cryptic promoters 3. Recent studies have expanded MTCP1's oncogenic role beyond T-cell malignancies, demonstrating its involvement in chrX lymphocytic leukemia when overexpressed in B-cells 4, and in myeloid neoplasms through fusion genes like GATAD2B::MTCP1 and KANSL1-MTCP1 that dysregulate MTCP1 expression 51. These findings establish MTCP1 as a versatile oncogene whose aberrant activation through chrX rearrangements drives proliferation and blocks differentiation across multiple hematologic malignancies, making it a potential therapeutic target.

Sources cited
1
MTCP1 overexpression induces increased cell proliferation and partial blockage of cell differentiation
PMID: 32167630
2
MTCP1 is involved in T-cell prolymphocytic leukemia through chromosomal translocations with T-cell receptor genes
PMID: 16645226
3
MTCP1 can be activated through t(X;7) translocations involving TCRB segments that activate cryptic promoters
PMID: 11054065
4
MTCP1 overexpression in B-cells produces chronic lymphocytic leukemia characteristics
PMID: 34732719
5
GATAD2B::MTCP1 fusion contributes to myeloid malignancy transformation and relapse
PMID: 39696784
6
KANSL1-MTCP1 fusion leads to dysregulated MTCP1 expression in acute myeloid leukemia
PMID: 32167630
Disease Associationsⓘ20
breast ductal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
chronic lymphocytic leukemiaOpen Targets
0.30Weak
acute myeloid leukemiaOpen Targets
0.28Weak
clear cell renal carcinomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
myelodysplastic syndromeOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
ovarian serous adenocarcinomaOpen Targets
0.28Weak
pancreatic neuroendocrine tumorOpen Targets
0.28Weak
skin basal cell carcinomaOpen Targets
0.28Weak
skin carcinomaOpen Targets
0.28Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYZAPShared pathway100%LRRC69Shared pathway100%DCDC2CShared pathway100%LRRC18Shared pathway100%ASB18Shared pathway100%LRRC30Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
100%
Bone Marrow
98%
Lung
52%
Heart
43%
Brain
16%
Gene Interaction Network
Click a node to explore
MTCP1MYZAPLRRC69DCDC2CLRRC18ASB18LRRC30
PROTEIN STRUCTURE
Preparing viewer…
PDB1A1X · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.90Intermediate
Observed/Expected LoF0.19 [0.08–0.59]
RankingsWhere MTCP1 stands among ~20K protein-coding genes
  • #13,019of 20,598
    Most Researched25
  • #4,048of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedMTCP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
T-cell prolymphocytic leukemia.
PMID: 16645226
Med Oncol · 2006
1.00
2
Identification of t(X;1)(q28;q21) generating a novel GATAD2B::MTCP1 gene fusion in CMML and its persistence during progression to AML.
PMID: 39696784
Hematology · 2025
0.90
3
MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene.
PMID: 35038703
Cytogenet Genome Res · 2021
0.80
4
T-cell prolymphocytic leukaemia: antigen receptor gene rearrangement and a novel mode of MTCP1 B1 activation.
PMID: 11054065
Br J Haematol · 2000
0.70
5
Identification of a t(X;17)(q28;q21) generating a KANSL1-MTCP1 gene fusion leading to dysregulated expression of MTCP1 in acute myeloid leukemia.
PMID: 32167630
Genes Chromosomes Cancer · 2020
0.60