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  3. IKZF1

IKZF1 (IKAROS family zinc finger 1)

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Summary of IKZF1

The gene codes for a protein, IKAROS family zinc finger 1. It regulates lymphocyte differentiation [R].

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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 Ikaros

Alternative name(s):

Ikaros family zinc finger protein 1
Lymphoid transcription factor LyF-1

IKZF1 SNPs

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  1. RS10230193 (IKZF1) ??
  2. RS10276619 (IKZF1) ??
  3. RS1110701 (IKZF1) ??
  4. RS11185602 (IKZF1) ??
  5. RS11185603 (IKZF1) ??
  6. RS11978267 (IKZF1) ??
  7. RS11980379 (IKZF1) ??
  8. RS12718597 (IKZF1) ??
  9. RS12718598 (IKZF1) ??
  10. RS1456893 (IKZF1) ??
  11. RS1456896 (IKZF1) ??
  12. RS17664743 (IKZF1) ??
  13. RS4132601 (IKZF1) ??
  14. RS4917014 (IKZF1) ??
  15. RS4917017 (IKZF1) ??
  16. RS6421315 (IKZF1) ??
  17. RS6583437 (IKZF1) ??
  18. RS6964969 (IKZF1) ??
  19. RS7781977 (IKZF1) ??
  20. RS7805803 (IKZF1) ??

Top Gene-Substance Interactions

IKZF1 Interacts with These Diseases

Disease Score

Substances That Increase IKZF1

Substances Interaction Organism Category

Substances That Decrease IKZF1

Substances Interaction Organism Category

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

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Pax-6
  • Sp1
  • Meis-1
  • NF-E2
  • NF-E2 p45
  • AREB6
  • NCX/Ncx

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
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_06300| AS27_02900| AS28_14099| CB1_000372004| CLL-associated antigen KW-6| CVID13| DNA-binding protein Ikaros| DNA-binding protein Ikaros-like| H920_05645| hik-1| hlk-1| Hs.54452| I79_009694| ik1| ik-1| ika| IKAROS| IKAROS family zinc finger 1 (Ikaros)| ikaros family zinc finger protein 1| Ikaros transcription factor| KAROS family zinc finger 1 (Ikaros)| LyF-1| LYF1| lymphoid transcription factor LyF-1| M91_08117| M959_13384| MDA_GLEAN10010415| N300_02781| N301_00412| N302_06203| N303_07329| N305_08189| N306_06679| N307_13962| N308_15046| N309_02331| N310_08984| N311_01880| N312_05805| N320_12615| N321_14091| N322_09608| N325_04272| N326_09103| N327_03965| N328_09182| N329_05780| N330_08183| N332_08690| N333_09049| N334_08945| N335_06213| N336_10536| N339_07093| N340_04826| N341_03602| PAL_GLEAN10022044| PANDA_006010| PPP1R92| PRO0758| protein phosphatase 1, regulatory subunit 92| RGD1562979| TREES_T100010191| UY3_08502| Y1Q_002639| Y956_16515| Z169_05897| Zfpn1a1| zinc finger protein, ikaros| zinc finger protein Ikaros| zinc finger protein subfamily 1A, 1| zinc finger protein, subfamily 1A, 1 (Ikaros)| zinc finger protein subfamily 1A member 1| ZNFN1A1| ikzf1

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