MIXL1: Mix Paired-Like Homeobox 1
A key transcription factor in mesoderm and endoderm development, with roles in hematopoiesis and cancer.
Gene Information Card
| Symbol | MIXL1 |
|---|---|
| Full Name | Mix paired-like homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 83881 ncbi.nlm.nih.gov/gene/83881 |
| Ensembl ID | ENSG00000185201 |
| UniProt ID | Q9H2W2 |
| OMIM ID | 609093 |
| HGNC ID | 17963 |
| Aliases | MIX, homeobox protein Mix-like 1, MML1 |
Description
MIXL1 encodes a homeobox transcription factor essential for mesoderm and endoderm formation during embryogenesis. It is a key regulator of primitive streak development and is involved in hematopoietic stem cell specification. MIXL1 expression is reactivated in certain cancers, where it may promote stemness and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | MIXL1 overexpression contributes to leukemogenesis by blocking differentiation and promoting self-renewal of hematopoietic progenitors. | COSMIC, ClinVar |
| Colorectal cancer | Ectopic MIXL1 expression in intestinal epithelium drives a fetal-like progenitor state, enhancing tumor initiation and progression. | COSMIC, NCBI Gene |
| Gastric cancer | MIXL1 upregulation correlates with poor prognosis and is associated with epithelial-mesenchymal transition (EMT). | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 0.0 | Not detected |
| HCT116 (colorectal) | 0.0 | Not detected |
| MCF7 (breast) | 0.0 | Not detected |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% in COSMIC | Likely loss of start codon; functional impact unknown |
| c.424C>T (p.Arg142Trp) | missense | <0.1% in COSMIC | Located in homeodomain; may affect DNA binding |
| c.601G>A (p.Gly201Arg) | missense | <0.1% in COSMIC | Located in C-terminal region; functional significance unclear |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in human disease; experimental knockout in mouse leads to embryonic lethality.
Gain of Function (GOF)
Overexpression in cancer is associated with oncogenic activity; specific gain-of-function mutations have not been identified.
Dominant Negative (DN)
No dominant-negative mutations described for MIXL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-2173791)
• Nodal signaling pathway (Reactome: R-HSA-1181150)
• Embryonic stem cell pluripotency and differentiation (KEGG: hsa04550)
Protein Summary
MIXL1 is a 240-amino acid homeobox transcription factor containing a conserved paired-like homeodomain that binds DNA sequences with a TAAT core motif. It functions as a transcriptional activator of mesendodermal genes. The protein is predominantly nuclear and is rapidly degraded in the absence of signaling cues. MIXL1 is not expressed in most adult tissues but is reactivated in several cancers, where it drives a stem-like phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIXL1 Knockout HEK293 Cell Line | EDJ-KQ9921 | Human | 83881 | Details Get a Quote |
| MIXL1 Knockout HeLa Cell Line | EDJ-KQ57493 | Human | 83881 | Details Get a Quote |
| MIXL1 Knockout A-549 Cell Line | EDJ-KQ65996 | Human | 83881 | Details Get a Quote |
| MIXL1 Knockout HCT 116 Cell Line | EDJ-KQ74419 | Human | 83881 | Details Get a Quote |
