IKZF1 Gene: Ikaros Family Zinc Finger Protein 1
A master regulator of lymphoid development and tumor suppression, frequently altered in B-cell acute lymphoblastic leukemia (B-ALL).
Gene Information Card
| Symbol | IKZF1 |
|---|---|
| Full Name | IKAROS Family Zinc Finger Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p12.2 |
| NCBI Gene ID | 10320 ncbi.nlm.nih.gov/gene/10320 |
| Ensembl ID | ENSG00000185811 |
| UniProt ID | Q13422 |
| OMIM ID | 603023 |
| HGNC ID | HGNC:1316 |
| Aliases | IK1, IKAROS, LYF1, ZNFN1A1, Hs.54452 |
Description
IKZF1 encodes Ikaros, a zinc finger transcription factor essential for the development and function of the immune system, particularly B- and T-cell lineages. It regulates gene expression by chromatin remodeling and acts as a tumor suppressor in lymphoid malignancies. Alterations in IKZF1 are strongly associated with poor prognosis in B-cell acute lymphoblastic leukemia (B-ALL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell acute lymphoblastic leukemia (B-ALL) | Deletion or loss-of-function mutations lead to haploinsufficiency or dominant-negative effects, disrupting B-cell differentiation and promoting leukemogenesis. | Strong evidence from genomic studies and clinical cohorts (e.g., COSMIC, ClinVar). |
| Acute lymphoblastic leukemia (ALL) - general | IKZF1 deletions are recurrent in ALL, especially in Philadelphia chromosome-positive (Ph+) and Ph-like subtypes, contributing to aggressive disease. | Multiple studies; COSMIC and ClinVar entries. |
| Immunodeficiency, common variable (CVID) | Rare germline mutations impair B-cell maturation, leading to antibody deficiency. | Case reports and functional studies; OMIM. |
| T-cell acute lymphoblastic leukemia (T-ALL) | IKZF1 alterations can disrupt T-cell development, though less frequent than in B-ALL. | Evidence from genomic profiling; COSMIC. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High |
| Lymph Node | High | High |
| Spleen | High | High |
| Thymus | High | High |
| Blood | Medium | Medium |
| Lung | Low | Low |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ramos (Burkitt lymphoma) | High | B-cell line; high expression expected. |
| Jurkat (T-ALL) | Medium | T-cell line; moderate expression. |
| K-562 (CML) | Low | Myeloid line; low expression. |
| HeLa (cervical carcinoma) | Low | Non-hematopoietic; low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| IKZF1 deletion (exon 4-7) | Copy number loss | ~15% of pediatric B-ALL, higher in Ph+ ALL | Loss of DNA-binding domain; dominant-negative effect. |
| IKZF1 N159S | Missense | Rare (<1%) | Impairs DNA binding; loss of function. |
| IKZF1 R367H | Missense | Rare | Disrupts zinc finger domain; loss of function. |
| IKZF1 frameshift (e.g., c.497delC) | Frameshift | Rare | Premature truncation; loss of function. |
Mutation functional classification
Loss of Function (LOF)
Most IKZF1 mutations are loss-of-function, leading to haploinsufficiency or complete loss of Ikaros activity, impairing lymphoid differentiation and promoting leukemia.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well-characterized; some may alter transcriptional repression activity, but evidence is limited.
Dominant Negative (DN)
Deletions that remove the DNA-binding domain but retain dimerization domains can produce dominant-negative isoforms that interfere with wild-type Ikaros function, as seen in B-ALL.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Chromatin remodeling | • Regulation of transcription by RNA polymerase II |
| • Lymphocyte differentiation | • Negative regulation of cell population proliferation |
Pathways
• B cell receptor signaling
• T cell receptor signaling
• Notch signaling
• JAK-STAT signaling (in leukemia context)
• Hematopoietic cell lineage
Protein Summary
Ikaros is a 519-amino acid protein with N-terminal zinc finger domains for DNA binding and C-terminal zinc fingers for dimerization. It functions as a transcriptional regulator, recruiting chromatin remodeling complexes to control gene expression. Ikaros is critical for the development of B- and T-cells, and its loss leads to aberrant immune cell proliferation and leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKZF1 Knockout HEK293 Cell Line | EDJ-KQ1061 | Human | 10320 | Details Get a Quote |
| IKZF1 Knockout HeLa Cell Line | EDJ-KQ55376 | Human | 10320 | Details Get a Quote |
| IKZF1 Knockout A-549 Cell Line | EDJ-KQ63858 | Human | 10320 | Details Get a Quote |
| IKZF1 Knockout HCT 116 Cell Line | EDJ-KQ72315 | Human | 10320 | Details Get a Quote |
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