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Aliases for IKZF1 Gene

Aliases for IKZF1 Gene

  • IKAROS Family Zinc Finger 1 2 3 5
  • Zinc Finger Protein, Subfamily 1A, 1 (Ikaros) 2 3
  • IKAROS Family Zinc Finger 1 (Ikaros) 2 3
  • Ikaros Family Zinc Finger Protein 1 3 4
  • Lymphoid Transcription Factor LyF-1 3 4
  • ZNFN1A1 3 4
  • IKAROS 3 4
  • LYF1 3 4
  • IK1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 92 3
  • CLL-Associated Antigen KW-6 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 92 2
  • Hs.54452 3
  • PPP1R92 3
  • PRO0758 3
  • CVID13 3
  • LyF-1 3

External Ids for IKZF1 Gene

Previous HGNC Symbols for IKZF1 Gene

  • ZNFN1A1

Previous GeneCards Identifiers for IKZF1 Gene

  • GC07P050314

Summaries for IKZF1 Gene

Entrez Gene Summary for IKZF1 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]

GeneCards Summary for IKZF1 Gene

IKZF1 (IKAROS Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with IKZF1 include pancytopenia due to ikzf1 mutations and leukemia, acute lymphoblastic. Among its related pathways are Innate Lymphoid Cell Differentiation Pathways and Dendritic Cells Developmental Lineage Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is IKZF4.

UniProtKB/Swiss-Prot for IKZF1 Gene

  • 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).

Gene Wiki entry for IKZF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IKZF1 Gene

Genomics for IKZF1 Gene

Regulatory Elements for IKZF1 Gene

Transcription factor binding sites by QIAGEN in the IKZF1 gene promoter:

Genomic Location for IKZF1 Gene

Chromosome:
7
Start:
50,303,465 bp from pter
End:
50,405,101 bp from pter
Size:
101,637 bases
Orientation:
Plus strand

Genomic View for IKZF1 Gene

Genes around IKZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKZF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKZF1 Gene

Proteins for IKZF1 Gene

  • Protein details for IKZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13422-IKZF1_HUMAN
    Recommended name:
    DNA-binding protein Ikaros
    Protein Accession:
    Q13422
    Secondary Accessions:
    • A4D260
    • B4E0Z1
    • D3DVM5
    • O00598
    • Q53XL2
    • Q69BM4
    • Q8WVA3

    Protein attributes for IKZF1 Gene

    Size:
    519 amino acids
    Molecular mass:
    57528 Da
    Quaternary structure:
    • Heterodimer formed by the various isoforms; this modulates transcription regulator activity (PubMed:17135265, PubMed:17934067). Heterodimer with other IKAROS family members. Interacts with IKZF4 AND IKZF5 (PubMed:10978333). Component of the chromatin-remodeling NuRD repressor complex which includes at least HDAC1, HDAC2, RBBP4, RBBP7, IKZF1, MTA2, MBD2, MBD3, MTA1L1, CHD3 and CHD4. Interacts directly with the CHD4 component of the NuRD complex. Component of the BAF (SWI/SNF) gene activator complex which includes ACTB, ARID1A, ARID1B, IKZF1, ARID1A, ARID1B, SMARCA2, SMARCA4 and at least one BAF subunit. Interacts directly with the SMARCA4 component of the BAF complex (By similarity). Interacts with SUMO1; the interaction sumoylates IKAROS, promoted by PIAS2 and PIAS3. Interacts with PIAS2 (isoform alpha); the interaction promotes sumoylation and reduces transcription repression. Interacts, to a lesser extent, with PIAS3. Interacts with PPP1CC; the interaction targets PPP1CC to pericentromeric heterochromatin, dephosphorylates IKAROS, stabilizes it and prevents it from degradation. Interacts with IKZF3 (By similarity).

    Alternative splice isoforms for IKZF1 Gene

neXtProt entry for IKZF1 Gene

Proteomics data for IKZF1 Gene at MOPED

Post-translational modifications for IKZF1 Gene

  • Phosphorylation controls cell-cycle progression from late G(1) stage to S stage. Hyperphosphorylated during G2/M phase. Dephosphorylated state during late G(1) phase. Phosphorylation on Thr-140 is required for DNA and pericentromeric location during mitosis. CK2 is the main kinase, in vitro. GSK3 and CDK may also contribute to phosphorylation of the C-terminal serine and threonine residues. Phosphorylation on these C-terminal residues reduces the DNA-binding ability. Phosphorylation/dephosphorylation events on Ser-13 and Ser-295 regulate TDT expression during thymocyte differentiation. Dephosphorylation by protein phosphatase 1 regulates stability and pericentromeric heterochromatin location. Phosphorylated in both lymphoid and non-lymphoid tissues (By similarity). Phosphorylation at Ser-361 and Ser-364 downstream of SYK induces nuclear translocation.
  • Polyubiquitinated.
  • Sumoylated. Simulataneous sumoylation on the 2 sites results in a loss of both HDAC-dependent and HDAC-independent repression. Has no effect on pericentromeric heterochromatin location. Desumoylated by SENP1 (By similarity).
  • Ubiquitination at Lys 286, Lys 301, Lys 378, and Lys 460
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IKZF1 (Ikaros)

No data available for DME Specific Peptides for IKZF1 Gene

Domains & Families for IKZF1 Gene

Protein Domains for IKZF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13422

UniProtKB/Swiss-Prot:

IKZF1_HUMAN :
  • The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to pericentromeric heterochromatin.
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
  • Contains 6 C2H2-type zinc fingers.
Domain:
  • The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to pericentromeric heterochromatin.
  • The C-terminal zinc-finger domain is required for dimerization.
Family:
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
Similarity:
  • Contains 6 C2H2-type zinc fingers.
genes like me logo Genes that share domains with IKZF1: view

Function for IKZF1 Gene

Molecular function for IKZF1 Gene

UniProtKB/Swiss-Prot Function:
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).

Gene Ontology (GO) - Molecular Function for IKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 21516116
GO:0044212 transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with IKZF1: view
genes like me logo Genes that share phenotypes with IKZF1: view

Human Phenotype Ontology for IKZF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IKZF1 Gene

MGI Knock Outs for IKZF1:

miRNA for IKZF1 Gene

miRTarBase miRNAs that target IKZF1

Transcription Factor Targets for IKZF1 Gene

Selected GeneGlobe predicted Target genes for IKZF1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for IKZF1 Gene

Localization for IKZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKZF1 Gene

Nucleus. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events. {ECO:0000269 PubMed:17135265, ECO:0000269 PubMed:22106042}.
Isoform Ik2: Nucleus. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events (By similarity). {ECO:0000250}.
Isoform Ik6: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IKZF1 Gene COMPARTMENTS Subcellular localization image for IKZF1 gene
Compartment Confidence
nucleus 5
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for IKZF1 Gene

Pathways & Interactions for IKZF1 Gene

genes like me logo Genes that share pathways with IKZF1: view

Pathways by source for IKZF1 Gene

SIGNOR curated interactions for IKZF1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0007498 mesoderm development TAS 8543809
GO:0016568 chromatin modification IEA --
GO:0030098 lymphocyte differentiation IMP 17934067
GO:0045892 negative regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with IKZF1: view

Drugs & Compounds for IKZF1 Gene

(13) Drugs for IKZF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IKZF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IKZF1: view

Transcripts for IKZF1 Gene

mRNA/cDNA for IKZF1 Gene

Unigene Clusters for IKZF1 Gene

IKAROS family zinc finger 1 (Ikaros):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IKZF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - -
SP13: - - - - -
SP14: - - - - - - - - -
SP15:

ExUns: 12a · 12b · 12c ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for IKZF1 Gene

GeneLoc Exon Structure for
IKZF1
ECgene alternative splicing isoforms for
IKZF1

Expression for IKZF1 Gene

mRNA expression in normal human tissues for IKZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IKZF1 Gene

This gene is overexpressed in Whole Blood (x20.0) and Spleen (x6.5).

Protein differential expression in normal tissues from HIPED for IKZF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.1), Blymphocyte (11.4), CD4 Tcells (8.9), CD8 Tcells (7.2), and NK cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for IKZF1 Gene



SOURCE GeneReport for Unigene cluster for IKZF1 Gene Hs.435949

mRNA Expression by UniProt/SwissProt for IKZF1 Gene

Q13422-IKZF1_HUMAN
Tissue specificity: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.
genes like me logo Genes that share expression patterns with IKZF1: view

Protein tissue co-expression partners for IKZF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for IKZF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IKZF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IKZF1 35
  • 99.7 (n)
  • 99.78 (a)
IKZF1 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IKZF1 36
  • 81 (a)
OneToOne
IKZF1 35
  • 89.53 (n)
  • 90.32 (a)
dog
(Canis familiaris)
Mammalia IKZF1 35
  • 91.46 (n)
  • 91.33 (a)
IKZF1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ikzf1 16
Ikzf1 35
  • 89.58 (n)
  • 93.4 (a)
Ikzf1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IKZF1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IKZF1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves IKZF1 35
  • 81.02 (n)
  • 86.1 (a)
IKZF1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IKZF1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ikzf1 35
  • 73.72 (n)
  • 78.84 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11721 35
zebrafish
(Danio rerio)
Actinopterygii ikzf1 36
  • 58 (a)
OneToOne
ikzf1 35
  • 68.79 (n)
  • 69.78 (a)
znfn1a1 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10790 36
  • 24 (a)
OneToMany
Species with no ortholog for IKZF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IKZF1 Gene

ENSEMBL:
Gene Tree for IKZF1 (if available)
TreeFam:
Gene Tree for IKZF1 (if available)

Paralogs for IKZF1 Gene

Paralogs for IKZF1 Gene

(13) SIMAP similar genes for IKZF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IKZF1: view

Variants for IKZF1 Gene

Sequence variations from dbSNP and Humsavar for IKZF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6421315 -- 50,315,611(+) TTTAG(C/G)TCTTG intron-variant
rs6583437 -- 50,310,671(+) GATTC(A/G)GGTTA intron-variant
rs6583438 -- 50,313,296(+) GTCTC(C/T)CCCAT intron-variant
rs6583439 -- 50,321,991(+) TAAAA(C/T)ACTCA intron-variant
rs6583440 -- 50,322,087(+) CAAAG(A/G)ATACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IKZF1 Gene

Variant ID Type Subtype PubMed ID
esv27276 CNV Loss 19812545
nsv522250 CNV Loss 19592680

Variation tolerance for IKZF1 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IKZF1 Gene

HapMap Linkage Disequilibrium report
IKZF1
Human Gene Mutation Database (HGMD)
IKZF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKZF1 Gene

Disorders for IKZF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for IKZF1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pancytopenia due to ikzf1 mutations
  • cid due to ikaros deficiency
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
hypersensitivity syndrome, carbamazepine-induced
  • toxic epidermal necrolysis
lymphoblastic leukemia
  • leukemia, lymphoid
precursor b-cell acute lymphoblastic leukemia
  • b-all
- elite association - COSMIC cancer census association via MalaCards
Search IKZF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IKZF1_HUMAN
  • Note=Defects in IKZF1 are frequent occurrences (28.6%) in acute lymphoblasic leukemia (ALL). Such alterations or deletions lead to poor prognosis for ALL.
  • Note=Chromosomal aberrations involving IKZF1 are a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;7)(q27;p12), with BCL6.

Relevant External Links for IKZF1

Genetic Association Database (GAD)
IKZF1
Human Genome Epidemiology (HuGE) Navigator
IKZF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IKZF1
genes like me logo Genes that share disorders with IKZF1: view

No data available for Genatlas for IKZF1 Gene

Publications for IKZF1 Gene

  1. The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse. (PMID: 8543809) Molnar A. … Georgopoulos K. (J. Immunol. 1996) 3 4 23 67
  2. Genetic inactivation of Ikaros is a rare event in human T-ALL. (PMID: 19796813) MarAsais A. … Kastner P. (Leuk. Res. 2010) 3 23
  3. Analysis of Ikaros family splicing variants in human hematopoietic lineages. (PMID: 20432734) MatuliA8 M. … Antica M. (Coll Antropol 2010) 3 23
  4. Ikaros stability and pericentromeric localization are regulated by protein phosphatase 1. (PMID: 19282287) Popescu M. … Dovat S. (J. Biol. Chem. 2009) 3 23
  5. Ikaros and GATA-1 combinatorial effect is required for silencing of human gamma-globin genes. (PMID: 19114560) Bottardi S. … Milot E. (Mol. Cell. Biol. 2009) 3 23

Products for IKZF1 Gene

Sources for IKZF1 Gene

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