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 |
---|---|---|---|---|---|
OMIM IDMIM:603023 Ensembl IDEnsembl:ENSG00000185811 HGNC IDHGNC:HGNC:13176 PHARMGKB IDPA37748 Map Location7p12.2 |
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in IKZF1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |