MCL1: Myeloid Cell Leukemia 1 - Apoptosis Regulator
A key anti-apoptotic BCL-2 family member implicated in cancer and therapy resistance
Gene Information Card
| Symbol | MCL1 |
|---|---|
| Full Name | myeloid cell leukemia 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 4170 ncbi.nlm.nih.gov/gene/4170 |
| Ensembl ID | ENSG00000168484 |
| UniProt ID | Q07820 |
| OMIM ID | 159552 |
| HGNC ID | 6943 |
| Aliases | BCL2L3, MCL1L, MCL1S, TM, EAT, Mcl-1 |
Description
MCL1 (myeloid cell leukemia 1) is a protein-coding gene that belongs to the BCL-2 family. It encodes an anti-apoptotic protein that regulates cell survival by inhibiting mitochondrial outer membrane permeabilization. MCL1 is frequently amplified or overexpressed in various cancers, contributing to tumorigenesis and resistance to chemotherapy. Alternative splicing generates multiple transcript variants encoding different isoforms, including a long pro-survival form and a short pro-apoptotic form.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | MCL1 amplification/overexpression promotes leukemic cell survival | COSMIC, ClinVar |
| Multiple Myeloma | MCL1 dependency; overexpression confers resistance to proteasome inhibitors | COSMIC, ClinVar |
| Breast Cancer | MCL1 amplification correlates with poor prognosis and therapy resistance | COSMIC, ClinVar |
| Non-Small Cell Lung Cancer | MCL1 copy number gain drives anti-apoptotic signaling | COSMIC |
| Chronic Lymphocytic Leukemia | MCL1 upregulation associated with disease progression and drug resistance | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 6.3 | Low |
| Breast | 5.1 | Low |
| Colon | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 18.4 | High expression |
| MCF7 (breast cancer) | 14.2 | High expression |
| A549 (lung cancer) | 11.0 | Medium expression |
| HCT116 (colon cancer) | 9.5 | Medium expression |
| HEK293 (embryonic kidney) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; predicted loss of function |
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Unknown significance |
| c.350G>A (p.Arg117His) | Missense | <0.1% | Unknown significance |
| c.511C>T (p.Arg171Cys) | Missense | <0.1% | Unknown significance |
| Amplification | Copy number gain | 5-10% in multiple cancers | Increased MCL1 expression; oncogenic |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or start-loss mutations that reduce anti-apoptotic activity.
Gain of Function (GOF)
Gene amplification leading to increased MCL1 protein levels and enhanced cell survival.
Dominant Negative (DN)
Not well characterized; short isoform (MCL1S) may act as a dominant-negative inhibitor of MCL1L.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis - multiple species (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• FoxO signaling pathway (KEGG: hsa04068)
Protein Summary
MCL1 is a 350-amino acid protein (isoform 1) with a C-terminal transmembrane domain that localizes to the mitochondrial outer membrane. It contains BH1, BH2, and BH3 domains characteristic of BCL-2 family members. MCL1 binds and sequesters pro-apoptotic proteins such as BAK and BAX, preventing mitochondrial outer membrane permeabilization and cytochrome c release. Its expression is tightly regulated at transcriptional, post-transcriptional, and post-translational levels. MCL1 is a validated therapeutic target in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCL1 Knockout HEK293 Cell Line | EDJ-KQ510 | Human | 4170 | Details Get a Quote |
| GMCL1 Knockout HEK293 Cell Line | EDJ-KQ11946 | Human | 64395 | Details Get a Quote |
| MCL1 Knockout A-549 Cell Line | EDJ-KQ18837 | Human | 4170 | Details Get a Quote |
| MCL1 Knockout HCT 116 Cell Line | EDJ-KQ18838 | Human | 4170 | Details Get a Quote |
| MCL1 Knockout HeLa Cell Line | EDJ-KQ18839 | Human | 4170 | Details Get a Quote |
| GMCL1 Knockout A-549 Cell Line | EDJ-KQ40463 | Human | 64395 | Details Get a Quote |
| GMCL1 Knockout HCT 116 Cell Line | EDJ-KQ40464 | Human | 64395 | Details Get a Quote |
| GMCL1 Knockout HeLa Cell Line | EDJ-KQ40465 | Human | 64395 | Details Get a Quote |
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