IKZF1 (Ikaros family zinc finger 1)
2000-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
7p12.2
LOCUSID
ALIAS
CVID13,Hs.54452,IK1,IKAROS,LYF1,LyF-1,PPP1R92,PRO0758,ZNFN1A1
FUSION GENES
DNA/RNA
Transcription
3629 bp mRNA; coding sequence: 1559 bp; 6 different splicings (--> 6 isoform proteins: ik1-ik6)
Proteins
Description
519 amino acids; 58 kDa; possesses 2 Zinc-finger (C2H2-type) domains: one with 4 ZnF, the second with2 ZnF; DNA binding
Expression
specificity for hematopoietic organs in the foetus and in the adult as well
Localisation
nuclear
Function
transcription regulator; can repress transcription through the recruitment of histone deacetylase complexes; role in conjunction with Aiolos; hemopoietic-specific zinc finger protein regulator of B and T-cell differentiation
Implicated in
Entity name
Note
only 2 cases to date
Hybrid gene
5 Ikaros - 3 BCL6 fusion transcript; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9413993 | 1997 | Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin. | Brown KE et al |
| 9143685 | 1997 | The role of the Ikaros gene in lymphocyte development and homeostasis. | Georgopoulos K et al |
| 10753856 | 2000 | The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma. | Hosokawa Y et al |
| 10766745 | 2000 | Ikaros interactions with CtBP reveal a repression mechanism that is independent of histone deacetylase activity. | Koipally J et al |
| 10544193 | 1999 | Defects in hemopoietic stem cell activity in Ikaros mutant mice. | Nichogiannopoulou A et al |
| 10523602 | 1999 | Pre-T cell receptor (TCR) and TCR-controlled checkpoints in T cell differentiation are set by Ikaros. | Winandy S et al |
| 10637510 | 1999 | Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples. | Yoshida S et al |
Other Information
Locus ID:
NCBI: 10320
MIM: 603023
HGNC: 13176
Ensembl: ENSG00000185811
Variants:
dbSNP: 10320
ClinVar: 10320
TCGA: ENSG00000185811
COSMIC: IKZF1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37578068 | 2024 | ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia. | 0 |
| 38320737 | 2024 | IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes. | 0 |
| 38438084 | 2024 | Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation. | 0 |
| 38494589 | 2024 | IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis. | 0 |
| 38537633 | 2024 | A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. | 0 |
| 38734037 | 2024 | A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity. | 0 |
| 37578068 | 2024 | ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia. | 0 |
| 38320737 | 2024 | IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes. | 0 |
| 38438084 | 2024 | Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation. | 0 |
| 38494589 | 2024 | IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis. | 0 |
| 38537633 | 2024 | A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. | 0 |
| 38734037 | 2024 | A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity. | 0 |
| 36433803 | 2023 | Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency. | 10 |
| 36764385 | 2023 | Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. | 3 |
| 36834692 | 2023 | IKAROS in Acute Leukemia: A Positive Influencer or a Mean Hater? | 3 |
Citation
Jean-Loup Huret
IKZF1 (Ikaros family zinc finger 1)
Atlas Genet Cytogenet Oncol Haematol. 2000-08-01
Online version: http://atlasgeneticsoncology.org/gene/258/ikzf1
