IKZF1
Summary: This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| IKAROS family zinc finger 1 | MIM:603023 | Ensembl:ENSG00000185811 | HGNC:HGNC:13176 | PA37748 | 7p12.2 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in IKZF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IBA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0006325 | chromatin organization |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0007049 | cell cycle |
| BP | TAS | GO:0007498 | mesoderm development |
| BP | IMP | GO:0030098 | lymphocyte differentiation |
| BP | IMP | GO:0030218 | erythrocyte differentiation |
| BP | ISS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0051291 | protein heterooligomerization |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0031618 | nuclear pericentric heterochromatin |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IMP | GO:0032991 | protein-containing complex |
Gene expression in normal tissue: IKZF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in IKZF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| pid | nfat_tfpathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
| wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
| wikipathways | WP3892 | Development of pulmonary dendritic cells and macrophage subsets |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD210 | AC55649 | 1 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD484 | Pluripotin | 6 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD474 | Avrainvillamide | 2 |
| iGMDRD255 | SB225002 | 4 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD870 | BRD63610 | 6 |
| iGMDRD441 | TW 37 | 2 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD286 | Nsc 632839 | 1 |
| iGMDRD577 | BIX01294 | 5 |
| iGMDRD506 | Fedratinib | 5 |
| iGMDRD60 | Quinoclamine | 6 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in IKZF1

