Summary of IKZF1
The gene codes for a protein, IKAROS family zinc finger 1. It regulates lymphocyte differentiation [R].
The Function of IKZF1
Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).
Protein names
Recommended name:
DNA-binding protein IkarosAlternative name(s):
Ikaros family zinc finger protein 1Lymphoid transcription factor LyF-1
- RS10230193 (IKZF1) ??
- RS10276619 (IKZF1) ??
- RS1110701 (IKZF1) ??
- RS11185602 (IKZF1) ??
- RS11185603 (IKZF1) ??
- RS11978267 (IKZF1) ??
- RS11980379 (IKZF1) ??
- RS12718597 (IKZF1) ??
- RS12718598 (IKZF1) ??
- RS1456893 (IKZF1) ??
- RS1456896 (IKZF1) ??
- RS17664743 (IKZF1) ??
- RS4132601 (IKZF1) ??
- RS4917014 (IKZF1) ??
- RS4917017 (IKZF1) ??
- RS6421315 (IKZF1) ??
- RS6583437 (IKZF1) ??
- RS6964969 (IKZF1) ??
- RS7781977 (IKZF1) ??
- RS7805803 (IKZF1) ??
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Top Gene-Substance Interactions
IKZF1 Interacts with These Diseases
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Substances That Increase IKZF1
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Substances That Decrease IKZF1
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Advanced Summary
Covered on Genetics Home Reference: common variable immune deficiencyFrom NCBI Gene: Immunodeficiency, common variable, 13From UniProt: Defects in IKZF1 are frequent occurrences (28.6%) in acute lymphoblasic leukemia (ALL). Such alterations or deletions lead to poor prognosis for ALL. Chromosomal aberrations involving IKZF1 are a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;7)(q27;p12), with BCL6.
From NCBI Gene: 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] From UniProt: Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.
Molecular Function:
- Dna Binding
- Metal Ion Binding
- Transcription Factor Activity, Sequence-Specific Dna Binding
- Transcription Regulatory Region Dna Binding
Biological Processes:
- Cell Cycle
- Covalent Chromatin Modification
- Erythrocyte Differentiation
- Lymphocyte Differentiation
- Mesoderm Development
- Negative Regulation Of Transcription, Dna-Templated
- Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
- Transcription, Dna-Templated