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IKZF1 Gene

protein-coding   GIFtS: 61
GCID: GC07P050343

IKAROS Family Zinc Finger 1 (Ikaros)

(Previous names: zinc finger protein, subfamily 1A, 1 (Ikaros))
(Previous symbol: ZNFN1A1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
IKAROS Family Zinc Finger 1 (Ikaros)1 2     IKAROS2 3
ZNFN1A11 2 3 5     PRO07582
IK12 3 5     CLL-Associated Antigen KW-62
LYF12 3 5     DNA-Binding Protein Ikaros2
Zinc Finger Protein, Subfamily 1A, 1 (Ikaros)1 2     hIk-12
Ikaros Family Zinc Finger Protein 12 3     Ikaros (Zinc Finger Protein)2
Lymphoid Transcription Factor LyF-12 3     

External Ids:    HGNC: 131761   Entrez Gene: 103202   Ensembl: ENSG000001858117   OMIM: 6030235   UniProtKB: Q134223   

Export aliases for IKZF1 gene to outside databases

Previous GC identifer: GC07P050314


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. All isoforms share a common C-terminal
domain, which contains two zinc finger motifs that are required for hetero- or homodimerization, and for
interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs
that bind DNA and contain the nuclear localization signal, resulting in members with and without DNA-binding
properties. Only 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 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 2011)

GeneCards Summary for IKZF1 Gene:
IKZF1 (IKAROS family zinc finger 1 (Ikaros)) is a protein-coding gene. Diseases associated with IKZF1 include pancytopenia due to ikzf1 mutations, and acute lymphocytic leukemia. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IKZF4.

UniProtKB/Swiss-Prot: IKZF1_HUMAN, Q13422
Function: Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Binds with
higher affinity to gamma satellite A. 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 (terminal
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)

Gene Wiki entry for IKZF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the IKZF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): IKZF1 promoter sequence
   Search Chromatin IP Primers for IKZF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IKZF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p12.2   Ensembl cytogenetic band:  7p12.2   HGNC cytogenetic band: 7p12.2

IKZF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IKZF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P050343:  view genomic region     (about GC identifiers)

Start:
50,343,720 bp from pter      End:
50,472,799 bp from pter
Size:
129,080 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 50,381,631-50,478,870     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IKZF1_HUMAN, Q13422 (See protein sequence)
Recommended Name: DNA-binding protein Ikaros  
Size: 519 amino acids; 57528 Da
Subunit: Heterodimer with other IKAROS family members. Interacts with IKZF4 AND IKZF5 (By similarity). 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)
Secondary accessions: A4D260 B4E0Z1 D3DVM5 O00598 Q53XL2 Q69BM4 Q8WVA3
Alternative splicing: 8 isoforms:  Q13422-1   Q13422-2   Q13422-3   Q13422-4   Q13422-5   Q13422-6   Q13422-7   Q13422-8   

Explore the universe of human proteins at neXtProt for IKZF1: NX_Q13422

Explore proteomics data for IKZF1 at MOPED

Post-translational modifications: 

  • 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 translocation1
  • 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)1
  • Polyubiquitinated (By similarity)1
  • Ubiquitination2 at Lys157, Lys286, Lys301, Lys378, Lys460
  • Modification sites at PhosphoSitePlus

  • See IKZF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (13 alternative transcripts): 
    NP_001207694.1  NP_001207695.1  NP_001207696.1  NP_001207697.1  NP_001207698.1  NP_001207699.1  NP_001207700.1  NP_001207701.1  
    NP_001207702.1  NP_001207703.1  NP_001207704.1  NP_001207705.1  NP_006051.1  

    ENSEMBL proteins: 
     ENSP00000388478   ENSP00000352123   ENSP00000331614   ENSP00000396554   ENSP00000413025  
     ENSP00000409588   ENSP00000349928   ENSP00000342750   ENSP00000342485   ENSP00000340080  
     ENSP00000401507  

    IKZF1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IKZF1

    IKZF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of IKZF1
    R&D Systems Antibodies for IKZF1 (Ikaros)
    Cell Signaling Technology (CST) Antibodies for IKZF1  (Ikaros)
    OriGene Antibodies for IKZF1
    OriGene Custom Antibody Services for IKZF1
    Novus Biologicals IKZF1 Antibodies
    Abcam antibodies for IKZF1
    Cloud-Clone Corp. Antibodies for IKZF1
    ThermoFisher Antibody for IKZF1
    LSBio Antibodies in human, mouse, rat for IKZF1

    IKZF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for IKZF1
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    Cloud-Clone Corp. ELISAs for IKZF1
    Cloud-Clone Corp. CLIAs for IKZF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IKZF: IKAROS zinc fingers
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q13422

    ProtoNet protein and cluster: Q13422

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: IKZF1_HUMAN, Q13422
    Domain: The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to
    pericentromeric heterochromatin (By similarity)
    Domain: The C-terminal zinc-finger domain is required for dimerization (By similarity)
    Similarity: Belongs to the Ikaros C2H2-type zinc-finger protein family
    Similarity: Contains 6 C2H2-type zinc fingers


    IKZF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IKZF1_HUMAN, Q13422
    Function: Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Binds with
    higher affinity to gamma satellite A. 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 (terminal
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8543809
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    IKZF1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ikzf1):
     cellular  digestive/alimentary  growth/size/body  hematopoietic system  immune system 
     integument  liver/biliary system  mortality/aging  respiratory system  tumorigenesis 

    IKZF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IKZF1: Ikzf1tm1(Pax5)Mbu Ikzf1tm2Kge Ikzf1tm1Kge

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IKZF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IKZF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IKZF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IKZF1

    miRNA
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    miRTarBase miRNAs that target IKZF1:
    hsa-mir-26b-5p (MIRT029793)

    Block miRNA regulation of human, mouse, rat IKZF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IKZF1 (see all 64):
    hsa-miR-548j hsa-miR-607 hsa-miR-218-1* hsa-miR-128 hsa-miR-548a-5p hsa-miR-92b hsa-miR-559 hsa-miR-27a
    SwitchGear 3'UTR luciferase reporter plasmidIKZF1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat IKZF1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for IKZF1

    Clone
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    GenScript: all cDNA clones in your preferred vector: IKZF1 (NM_006060)
    Sino Biological Human cDNA Clone for IKZF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IKZF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKZF1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for IKZF1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKZF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IKZF1_HUMAN, Q13422: 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)
    IKZF1_HUMAN, Q13422: 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)
    IKZF1_HUMAN, Q13422: Isoform Ik6: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005721centromeric heterochromatin IEA--
    GO:0005737cytoplasm IEA--

    IKZF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IKZF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    2Lymphocyte Signaling
    Lymphocyte Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IKZF1
        Lymphocyte Signaling

    1 BioSystems Pathway for IKZF1
        Calcineurin-regulated NFAT-dependent transcription in lymphocytes




    IKZF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IKZF1
    Interactions:

        GeneGlobe Interaction Network for IKZF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IKZF1 (Q134222, 3 ENSP000003316144) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK2AP2O759562, 3MINT-8251219 I2D: score=2 
    NUDT21O438092, 3MINT-8264380 I2D: score=2 
    CTBP1Q133632, 3, ENSP000002909214MINT-8253869 I2D: score=4 STRING: ENSP00000290921
    CSNK1G1Q9HCP02, 3, ENSP000003057774MINT-8252879 I2D: score=2 STRING: ENSP00000305777
    UBE2IP632793, ENSP000003248974I2D: score=5 STRING: ENSP00000324897
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001779natural killer cell differentiation IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007049cell cycle IEA--

    IKZF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IKZF1

    Selected Novoseek inferred chemical compound relationships for IKZF1 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1-ethyl-2-benzimidazolinone 76.8 9 12421833 (4), 10712246 (3)
    zoxazolamine 67.8 5 10712246 (3), 12421833 (1)
    zinc 61.1 49 10473095 (3), 7969165 (3), 9892693 (2), 8543809 (2) (see all 32)
    clotrimazole 48.2 4 12609997 (1), 14985237 (1), 9326665 (1)
    chlorzoxazone 41 8 10712246 (6), 12421833 (1)
    charybdotoxin 21.4 1 9326665 (1)
    leucine 16.1 7 12493744 (3), 11798181 (1), 16364975 (1)
    alanine 2.61 5 11096085 (1), 11439928 (1), 19282287 (1)
    lysine 0 1 16135513 (1)
    atp 0 38 11096085 (10), 11439928 (10), 10617655 (5), 18690018 (4)



    IKZF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IKZF1 gene (13 alternative transcripts): 
    NM_001220765.1  NM_001220766.1  NM_001220767.1  NM_001220768.1  NM_001220769.1  NM_001220770.1  NM_001220771.1  NM_001220772.1  
    NM_001220773.1  NM_001220774.1  NM_001220775.1  NM_001220776.1  NM_006060.4  

    Unigene Clusters for IKZF1:

    IKAROS family zinc finger 1 (Ikaros)
    Hs.435949  [show with all ESTs], Hs.488251  [show with all ESTs]
    Unigene Representative Sequences: BC075820, NM_006060
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484847 ENST00000413698(uc003tov.1) ENST00000359197 ENST00000331340(uc003tow.4 uc003tox.4 uc003toy.4 uc003toz.4)
    ENST00000438033 ENST00000439701 ENST00000492782 ENST00000462201 ENST00000471793
    ENST00000426121 ENST00000492119 ENST00000357364(uc022acx.1) ENST00000343574(uc003tpa.4 uc022acr.1 uc022act.1 uc022acu.1 uc022acv.1 uc022acw.1 uc022acy.1 uc022acz.1 uc011kck.2)
    ENST00000349824(uc022acq.1) ENST00000346667(uc022acs.1 uc010kyx.3)
    ENST00000440768

    miRNA
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    hsa-miR-548j hsa-miR-607 hsa-miR-218-1* hsa-miR-128 hsa-miR-548a-5p hsa-miR-92b hsa-miR-559 hsa-miR-27a
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      QuantiFast Probe-based Assays in human, mouse, rat IKZF1

    Additional mRNA sequence: 

    AF180297.1 AK303586.1 AK308411.1 AM085310.1 AY377974.1 BC018349.1 BC064594.1 BT009836.1 
    U40462.1 

    15 DOTS entries:

    DT.99932546  DT.312085  DT.99929677  DT.100778579  DT.91816151  DT.100017265  DT.97795316  DT.121096645 
    DT.121096761  DT.121096663  DT.95120803  DT.121096736  DT.92425009  DT.92425013  DT.99983936 

    12 AceView cDNA sequences:

    AI064938 BQ712123 BQ710482 BQ712573 AF116605 BM148203 AF180297 AW405039 
    BF794111 CF136488 BQ712116 BX117123 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IKZF1 (see all 15)    About this scheme

    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:                          -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -                           

    ExUns: 12a · 12b · 12c ^ 13
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for IKZF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    IKZF1 expression in normal human tissues (normalized intensities)      IKZF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGATGTG
    IKZF1 Expression
    About this image


    IKZF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Common Lymphoid Progenitor Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Rx-GFP+ cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
    IKZF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IKZF1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.435949 Hs.488251

    UniProtKB/Swiss-Prot: IKZF1_HUMAN, Q13422
    Tissue specificity: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower
    expression in bone marrow and small intestine

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IKZF1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ikzf11 , 5 IKAROS family zinc finger 11, 5 89.58(n)1
    93.4(a)1
      11 (7.02 cM)5
    227781  NM_001025597.11  NP_001020768.11 
     116850035 
    chicken
    (Gallus gallus)
    Aves IKZF11 IKAROS family zinc finger 1 (Ikaros) 81.02(n)
    86.1(a)
      395974  NM_205088.1  NP_990419.1 
    lizard
    (Anolis carolinensis)
    Reptilia IKZF16
    IKAROS family zinc finger 1 (Ikaros)
    66(a)
    1 ↔ 1
    6(54285713-54384157)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ikzf11 IKAROS family zinc finger 1 (Ikaros) 73.72(n)
    78.84(a)
      548415  NM_001015698.1  NP_001015698.1 
    zebrafish
    (Danio rerio)
    Actinopterygii znfn1a12 zinc finger protein, subfamily 1A, 1 (Ikaros) 77.66(n)   30177  AF092175.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IKZF1 gene
    IKZF42  IKZF52  IKZF32  IKZF22  
    13 SIMAP similar genes for IKZF1 using alignment to 3 protein entries:     IKZF1_HUMAN (see all proteins):
    ZNFN1A1    IKZF3    LOC389490    IKZF4    ZNF    ZNF844
    ZNFN1A2    IKZF2    PLZF    ZNF323    ZNF697    ZNF702P
    ZNF833P

    IKZF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IKZF1 (see all 1660)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1913361261,2
    --50320190(+) TTTCAC/GTACCT 13 -- int10--------
    rs1808799131,2
    --50320323(+) CGCTGC/TTTGTG 13 -- int10--------
    rs1857671501,2
    --50320466(+) TCAACC/TGCCCT 13 -- int10--------
    rs1497174921,2
    --50320529(+) GGCCTA/GTGCCT 13 -- int10--------
    rs1910614081,2
    --50320572(+) CCCTTA/GGTCTT 13 -- int10--------
    rs801615601,2
    C,F--50320644(+) TTCTCG/TGCCCT 13 -- int11Minor allele frequency- T:0.04WA 118
    rs1455321051,2
    C--50320676(+) ACAGGG/TGTGCC 13 -- int10--------
    rs1831485701,2
    --50320723(+) CAAGTC/TTGGAA 13 -- int10--------
    rs1395387331,2
    --50320792(+) AGGCTC/GCATTT 13 -- int10--------
    rs1176242611,2
    C,F--50320806(+) GAATTC/TATGAC 13 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for IKZF1 (50343720 - 50472799 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IKZF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522250CNV Loss19592680
    esv27276CNV Loss19812545

    Human Gene Mutation Database (HGMD): IKZF1
    1 Site Specific Mutation Identification with PCR Assay for IKZF1:
    Cosmic IdAA Change
    87302p.R111fs*15
    SeqTarget long-range PCR primers for resequencing IKZF1
    DNA2.0 Custom Variant and Variant Library Synthesis for IKZF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603023    OMIM disorders: --

    UniProtKB/Swiss-Prot: IKZF1_HUMAN, Q13422
  • 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

  • Selected diseases for IKZF1 (see all 40):    About MalaCards
    pancytopenia due to ikzf1 mutations    acute lymphocytic leukemia    lymphoblastic leukemia    pancytopenia
    acute lymphoblastic leukemia, childhood    precursor b-cell acute lymphoblastic leukemia    hepatopulmonary syndrome    leukemia/lymphoma, t-cell
    pituitary tumors    lymphopenia    leukemia    choriocarcinoma
    systemic lupus erythematosus    diffuse large b-cell lymphoma    acute leukemia    b-cell lymphomas
    myeloid leukemia    down syndrome    crohn's disease    non-hodgkin lymphoma

    1 disease from the University of Copenhagen DISEASES database for IKZF1:
    Leukemia

    IKZF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for IKZF1 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    t-all 67.6 16 10473095 (5), 19796813 (5), 11937265 (2), 18032925 (1) (see all 5)
    leukemogenesis 60 12 18032925 (3), 10552935 (1), 17332745 (1), 18941217 (1) (see all 7)
    blast crisis 58.2 7 10463586 (3), 12648068 (1), 12670348 (1), 11937265 (1)
    lymphoblastic leukemia acute 49.9 11 9892693 (2), 10577847 (1), 19131787 (1), 19796813 (1) (see all 10)
    leukemia 48.5 43 15015965 (5), 11489963 (4), 11908734 (3), 20432734 (3) (see all 22)
    leukemia t-cell 40.2 13 18287091 (2), 10473095 (1), 18941217 (1), 11937265 (1) (see all 5)
    leukaemia lymphocytic 38.2 7 16205638 (3), 10577847 (1), 9892693 (1)
    lymphoma 36.4 14 10597273 (3), 10463586 (1), 11997672 (1), 14687027 (1) (see all 9)
    lymphoma b-cell 25.6 1 10753856 (1)
    lymphoblastic leukemia acute childhood 20.5 1 10577847 (1)

    Genetic Association Database (GAD): IKZF1
    Human Genome Epidemiology (HuGE) Navigator: IKZF1 (10 documents)

    Export disorders for IKZF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IKZF1 gene, integrated from 10 sources (see all 271):
    (articles sorted by number of sources associating them with IKZF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse. (PubMed id 8543809)1, 2, 9 Molnar A.... Georgopoulos K. (J. Immunol. 1996)
    2. Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities. (PubMed id 10978333)1, 2, 9 Perdomo J.... Crossley M. (J. Biol. Chem. 2000)
    3. Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes. (PubMed id 10204490)1, 2, 9 Kim J....Georgopoulos K. (Immunity 1999)
    4. The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma. (PubMed id 10753856)1, 2, 9 Hosokawa Y....Seto M. (Blood 2000)
    5. Serine phosphorylation by SYK is critical for nuclear localization and transcription factor function of Ikaros. (PubMed id 23071339)1, 2 Uckun F.M.... Qazi S. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Variation at 7p12.2 and 10q21.2 influences childhood acute lymphoblastic leukemia risk in the Thai population and may contribute to racial differences in leukemia incidence. (PubMed id 20919861)1, 4 Vijayakrishnan J....Pakakasama S. (amp 2010)
    7. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    8. TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population. (PubMed id 20516000)1, 4 He C.F....Yang S. (Lupus 2010)
    9. Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients. (PubMed id 19760754)1, 4 TAPrkvist L....Pettersson S. (Inflamm. Bowel Dis. 2010)
    10. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. (PubMed id 20042726)1, 4 Prasad R.B.... Hemminki K. (Blood 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10320 HGNC: 13176 AceView: LOC389490 Ensembl:ENSG00000185811 euGenes: HUgn10320
    ECgene: IKZF1 H-InvDB: IKZF1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IKZF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IKZF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IKZF1 gene:
    Search GeneIP for patents involving IKZF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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