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