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].

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Gene Categories:

CLINICALLY ACTIONABLE

GO terms in IKZF1


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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
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Gene expression in normal tissue: IKZF1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in IKZF1


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD210 AC55649 1
iGMDRD126 Tipifarnib 1
iGMDRD512 nutlin 3 2
iGMDRD144 NSC95397 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in IKZF1

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Level
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Cancer
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