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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IKZF1 Gene

protein-coding   GIFtS: 59
GCID: GC07P050343

IKAROS family zinc finger 1 (Ikaros)

(Previous names: zinc finger protein, subfamily 1A, 1 (Ikaros) )
(Previous symbol: ZNFN1A1)
 Explore 30 diseases affiliated with
IKZF1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for IKZF1    

Aliases
for IKZF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
IKAROS Family Zinc Finger 1 (Ikaros)1 2     Ikaros Family Zinc Finger Protein 12 3
ZNFN1A11 2 3 5     Lymphoid Transcription Factor LyF-12 3
IKAROS1 2 3     LyF-11
IK12 3 5     PRO07582
LYF12 3 5     CLL-Associated Antigen KW-62
HIk-11     DNA-Binding Protein Ikaros2
Zinc Finger Protein, Subfamily 1A, 1 (Ikaros)1 2     Ikaros (Zinc Finger Protein)2

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


Summaries
for IKZF1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IKZF1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_033968.6  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IKZF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IKZF1


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

Entrez Gene cytogenetic band: 7p13-p11.1   Ensembl cytogenetic band:  7p12.2   HGNC cytogenetic band: 7pter-7qter

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     

Proteins
for IKZF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: 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)
Subcellular location: 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)
Subcellular location: Isoform Ik6: Cytoplasm (By similarity)
Secondary accessions: A4D260 B4E0Z1 D3DVM5 O00598 Q53XL2 Q8WVA3
Alternative splicing: 7 isoforms:  Q13422-1   Q13422-2   Q13422-3   Q13422-4   Q13422-5   Q13422-6   Q13422-7   

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

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)1
  • 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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13422

    • IKZF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000331614   ENSP00000352123   ENSP00000396554   ENSP00000413025  
     ENSP00000409588   ENSP00000349928   ENSP00000342750   ENSP00000342485   ENSP00000340080  
     ENSP00000401507  

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    Novus Biologicals IKZF1 Protein
    Novus Biologicals IKZF1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for IKZF1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005721centromeric heterochromatin IEA--
    GO:0005737cytoplasm IEA--


    IKZF1 for ontologies           About GeneDecksing



    IKZF1 Antibody Products: 
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    Uscn ELISAs and CLIAs for IKZF1

    Protein Domains /
    Families
    for IKZF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IKZF1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for IKZF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    10/322 SABiosciences Target genes for IKZF1 (see all 322):
    AAA1 AADACL3 ABCD4 ABI3 ACBD7 ACSBG1 ACSM4 ADH6 AGPAT4 AGPS

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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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    Inhib. RNA
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding TAS8543809
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--


    IKZF1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for IKZF1: Ikzf1tm1(Pax5)Mbu Ikzf1tm2Kge Ikzf1tm1Kge
         10 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ikzf1):
     cellular  digestive/alimentary  growth/size  hematopoietic system  immune system 
     integument  liver/biliary system  mortality/aging  respiratory system  tumorigenesis 

    IKZF1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for IKZF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    2Calcium signaling in the CD4+ TCR pathway
    		Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38

    Pathway sources
    See GeneCards unified pathways
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IKZF1

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

    5/44 Interacting proteins for IKZF1 (Q134222, 3 ENSP000003316144) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    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): 5/22 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007049cell cycle IEA--


    IKZF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IKZF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IKZF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for IKZF1
    10/15 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about IKZF1 

    Transcripts
    for IKZF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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], Hs.731495  [show with all ESTs]
    Unigene Representative Sequences: BC075820, NM_006060, AF432219
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484847 ENST00000413698(uc003tov.1) ENST00000331340(uc003tow.4 uc003tox.4 uc003toy.4 uc003toz.4)
    ENST00000359197 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

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    Additional cDNA sequence: 

    AF432219.1 S80876.1 

    18 DOTS entries:

    DT.91816151  DT.99932546  DT.312085  DT.99929677  DT.100778579  DT.92425013  DT.100017265  DT.121096761 
    DT.97795316  DT.121096645  DT.92425009  DT.121096663  DT.121096673  DT.121096736  DT.40247833  DT.95120803 
    DT.100711752  DT.99983936 

    12 AceView cDNA sequences:

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

    GeneLoc Exon Structure

    5/15 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

    Expression
    for IKZF1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IKZF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAAGATGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IKZF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BloodPeripheral BloodCommon Lymphoid Progenitor CellsBlood
    BloodPeripheral BloodB-cell Progenitor CellsBlood
    BloodPeripheral BloodImmature B CellsBlood
    BloodPeripheral BloodPre-B CellsBlood
    BloodPeripheral BloodPro-B CellsBlood
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Rx-GFP+ cells (Generation of retina...)

    See IKZF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IKZF1

    SOURCE GeneReport for Unigene clusters: Hs.435949 Hs.488251 Hs.731495

    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

        SABiosciences Custom PCR Arrays for IKZF1
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    Orthologs
    for IKZF1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for IKZF1 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 82(a)
    		 1 ↔ 1
    		 6(54342687-54384157)
    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
    for IKZF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IKZF1 gene
    IKZF42  IKZF52  IKZF32  IKZF22  TRPS12  
    13 SIMAP similar genes for IKZF1 using alignment to 2 protein entries:     IKZF1_HUMAN (see all proteins):
    ZNFN1A1    LOC389490    IKZF3    IKZF4    ZNF    ZNF844
    ZNFN1A2    IKZF2    PLZF    ZNF323    ZNF697    ZNF702P
    ZNF833P

    IKZF1 for paralogs           About GeneDecksing



    Genomic Variants
    for IKZF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/454 NCBI SNPs in IKZF1 are shown (see all 454)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs801615601,2
    		F,--50379902(+) TTCTCG/TGCCCT 13 -- int11Minor allele frequency- T:0.04WA 118
    rs115060391,2
    		C,F,H,--50381797(+) TTTCAA/GTAGGA 13 -- int114Minor allele frequency- G:0.12NS EA NA WA 2094
    rs757668251,2
    		F,--50382331(+) AAATAT/GTTGTC 13 -- int11Minor allele frequency- G:0.02EA 120
    rs102353991,2
    		C,--50382427(+) CGATTC/TCATAG 13 -- int12Minor allele frequency- T:0.06NA 122
    rs744038971,2
    		F,--50382678(+) AATTTG/TAAAAT 13 -- int11Minor allele frequency- T:0.05EA 120
    rs781681131,2
    		C,F,--50383019(+) TAAAAT/CGCAGA 13 -- int11Minor allele frequency- C:0.14WA 118
    rs793918911,2
    		C,F,--50383061(+) AATAAT/CGATGT 13 -- int11Minor allele frequency- C:0.03NA 120
    rs746075231,2
    		F,--50383174(+) CTCTTA/CAGTCT 13 -- int11Minor allele frequency- C:0.05WA 118
    rs102440231,2
    		C,F,H,--50384656(+) TCACAC/TACACA 13 -- int110Minor allele frequency- T:0.01NS EA NA 1312
    rs567369211,2
    		F,--50384741(+) GATATC/TGACAG 13 -- int11Minor allele frequency- T:0.13EA 120

    HapMap Linkage Disequilibrium report for IKZF1 (50343720 - 50472799 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for IKZF1
         1 CNV: 69877
    Human Gene Mutation Database (HGMD): IKZF1

    1 SABiosciences Cancer Mutation PCR Assay for IKZF1:
    Cosmic IdAA Change
    87302p.R111fs*15
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IKZF1
    DNA2.0 Custom Variant and Variant Library Synthesis for IKZF1

    Disorders / Diseases
    for IKZF1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IKZF1 for disorders           About GeneDecksing

    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

    20/30 diseases for IKZF1 (see all 30):    About MalaCards
    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia    diffuse large b-cell lymphoma
    b-cell lymphomas    non-hodgkin lymphoma    leukemia/lymphoma    systemic lupus erythematosus
    leukemia/lymphoma, t-cell    myeloid leukemia    lupus erythematosus    hodgkin's lymphoma
    pituitary tumor    chronic lymphocytic leukemia    acute myeloid leukemia    lymphocytic leukemia
    hepatopulmonary syndrome    lymphopenia    choriocarcinoma    crohn's disease

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

    10/19 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: IKZF1 (10 documents)

    Export disorders for IKZF1 gene to outside databases

    Publications
    for IKZF1 gene

    (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)
    About This Section

    PubMed articles for IKZF1 gene, integrated from 9 sources (see all 241):
    (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. (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. (2000)
    3. Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes. (PubMed id 10204490)1, 2, 9 Kim J....Georgopoulos K. (1999)
    4. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. (PubMed id 19129520)1, 2 Mullighan C.G.... Downing J.R. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. Cloning and sequencing of hIk-1, a cDNA encoding a human homologue of mouse Ikaros/LyF-1. (PubMed id 8964602)1, 2 Nietfeld W. and Meyerhans A. (1996)
    8. The lymphoid transcription factor LyF-1 is encoded by specific, alternatively spliced mRNAs derived from the Ikaros gene. (PubMed id 7935426)1, 3 Hahm K....Smale S.T. (1994)
    9. Ikaros, an early lymphoid-specific transcription factor and a putative mediator for T cell commitment. (PubMed id 1439790)1, 3 Georgopoulos K....Derfler B. (1992)
    10. Ikaros stability and pericentromeric localization are regulated by protein phosphatase 1. (PubMed id 19282287)1, 9 Popescu M....Dovat S. (2009)

    External Searches for IKZF1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IKZF1 gene

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

    Other Databases showing IKZF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IKZF1 gene

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

    Intellectual Property
    for IKZF1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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