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IKZF1 (Ikaros family zinc finger 1)

Identity

Other namesIK1
LYF1
ZNFN1A1 (zinc finger protein, subfamily 1A, 1)
HGNC (Hugo) IKZF1
LocusID (NCBI) 10320
Location 7p12.2
Location_base_pair Starts at 50344378 and ends at 50472798 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Transcription 3629 bp mRNA; coding sequence: 1559 bp; 6 different splicings (--> 6 isoform proteins: ik1-ik6)

Protein

Description 519 amino acids; 58 kDa; possesses 2 Zinc-finger (C2H2-type) domains: one with 4 ZnF, the second with2 ZnF; DNA binding
Expression specificity for hematopoietic organs in the foetus and in the adult as well
Localisation nuclear
Function transcription regulator; can repress transcription through the recruitment of histone deacetylase complexes; role in conjunction with Aiolos; hemopoietic-specific zinc finger protein regulator of B and T-cell differentiation

Implicated in

Entity t(3;7)(q27;p12) diffuse large B-cell lymphoma (DLCL) --> BCL6 / Ikaros
Note only 2 cases to date
Hybrid/Mutated Gene 5' Ikaros - 3' BCL6 fusion transcript; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
  

External links

Nomenclature
HGNC (Hugo)IKZF1   13176
Entrez_Gene (NCBI)IKZF1  10320  IKAROS family zinc finger 1 (Ikaros)
Cards
AtlasIkarosID258
GeneCards (Weizmann)IKZF1
Ensembl (Hinxton)ENSG00000185811 [Gene_View]  chr7:50344378-50472798 [Contig_View]  IKZF1 [Vega]
AceView (NCBI)IKZF1
Genatlas (Paris)IKZF1
SOURCE (Stanford)NM_001220765 NM_001220766 NM_001220767 NM_001220768 NM_001220769 NM_001220770 NM_001220771 NM_001220772 NM_001220773 NM_001220774 NM_001220775 NM_001220776 NM_006060
Genomic and cartography
GoldenPath (UCSC)IKZF1  -  7p12.2   chr7:50344378-50472798 +  7pter-7qter   [Description]    (hg19-Feb_2009)
EnsemblIKZF1 - 7pter-7qter [CytoView]
Mapping of homologs : NCBIIKZF1 [Mapview]
OMIM603023   
Gene and transcription
Genbank (Entrez)AF116605 AF432219 AK303586 AK308411 AM085310
RefSeq transcript (SRS)NM_001220765 NM_001220766 NM_001220767 NM_001220768 NM_001220769 NM_001220770 NM_001220771 NM_001220772 NM_001220773 NM_001220774 NM_001220775 NM_001220776 NM_006060
RefSeq transcript (Entrez)NM_001220765 NM_001220766 NM_001220767 NM_001220768 NM_001220769 NM_001220770 NM_001220771 NM_001220772 NM_001220773 NM_001220774 NM_001220775 NM_001220776 NM_006060
RefSeq genomic (SRS)AC_000068 AC_000139 NC_000007 NC_018918 NT_007819 NT_033968 NT_079592 NW_001839006 NW_001839007 NW_004078029
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NT_007819 NT_033968 NT_079592 NW_001839006 NW_001839007 NW_004078029
Consensus coding sequences : CCDS (NCBI)IKZF1
Cluster EST : UnigeneHs.731495 [ SRS ] Hs.731495 [ NCBI ]
CGAP (NCI)Hs.731495
Alternative Splicing : Fast-db (Paris)GSHG0027351
Alternative Splicing GalleryENSG00000185811
Gene ExpressionIKZF1 [ NCBI-GEO ]   IKZF1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13422 (SRS) Q13422 (Uniprot)
NextProtQ13422
With graphics : InterProQ13422
Splice isoforms : SwissVarQ13422(Swissvar)
Domaine pattern : Prosite (SRS)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (SRS)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Related proteins : CluSTrQ13422
Domain families : Pfam (SRS)
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
DMDM10320
Blocks (Seattle)Q13422
Human Protein AtlasENSG00000185811
HPRD04318
IPIIPI00013232   IPI00216387   IPI00216388   IPI00216389   IPI00216390   IPI00216391   IPI00216392   IPI00782995   IPI01011333   IPI00152529   IPI00926847   
Protein Interaction databases
DIP (DOE-UCLA)Q13422
IntAct (EBI)Q13422
FunCoupENSG00000185811
REACTOMEIKZF1
Protein Interaction Database10320
BioGRIDIKZF1
InParanoidQ13422
Interologous Interaction database Q13422
IntegromeDBIKZF1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)IKZF1
SNP (GeneSNP Utah)IKZF1
SNP : HGBaseIKZF1
Genetic variants : HAPMAPIKZF1
Cancer Gene: CensusIKZF1 
Somatic Mutations in Cancer : COSMICIKZF1 
CONAN: Copy Number AnalysisIKZF1 
Translocation Breakpoints in Cancer : TICdbIKZF1 
Mutations and Diseases : HGMDIKZF1
OMIM603023   
GENETests603023   
Disease Genetic AssociationIKZF1
Huge Navigator IKZF1 [HugePedia]  IKZF1 [HugeCancerGEM]
Genomic VariantsIKZF1  IKZF1 [DGVbeta]
snp3D : Map Gene to Disease10320
General knowledge
Homologs : HomoloGeneIKZF1
Homology/Alignments : Family Browser (UCSC)IKZF1
Phylogenetic Trees/Animal Genes : TreeFamIKZF1
Chemical/Protein Interactions : CTD10320
Chemical/Pharm GKB GenePA37748
Clinical trialIKZF1
Cancer Resource (Charite)ENSG00000185811
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  natural killer cell differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  nucleus  centromeric heterochromatin  cytoplasm  transcription, DNA-dependent  cell cycle  mesoderm development  zinc ion binding  chromatin modification  B cell differentiation  T cell differentiation  forebrain development  positive regulation of multicellular organism growth  sequence-specific DNA binding  positive regulation of neutrophil differentiation  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  lymph node development  thymus development  Peyer's patch development  gland development  positive regulation of NK T cell differentiation  retina development in camera-type eye  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  natural killer cell differentiation  DNA binding  sequence-specific DNA binding transcription factor activity  nucleus  centromeric heterochromatin  cytoplasm  transcription, DNA-dependent  cell cycle  mesoderm development  zinc ion binding  chromatin modification  B cell differentiation  T cell differentiation  forebrain development  positive regulation of multicellular organism growth  sequence-specific DNA binding  positive regulation of neutrophil differentiation  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  lymph node development  thymus development  Peyer's patch development  gland development  positive regulation of NK T cell differentiation  retina development in camera-type eye  
Other databases
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
PubGeneIKZF1
iHOPIKZF1

Bibliography

Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin.
Brown KE, Guest SS, Smale ST, Hahm K, Merkenschlager M, Fisher AG
Cell. 1997 ; 91 (6) : 845-854.
PMID 9413993
 
The role of the Ikaros gene in lymphocyte development and homeostasis.
Georgopoulos K, Winandy S, Avitahl N
Annual review of immunology. 1997 ; 15 : 155-176.
PMID 9143685
 
Ikaros in hemopoietic lineage determination and homeostasis.
Nichogiannopoulou A, Trevisan M, Friedrich C, Georgopoulos K
Seminars in immunology. 1998 ; 10 (2) : 119-125.
PMID 9618757
 
Pre-T cell receptor (TCR) and TCR-controlled checkpoints in T cell differentiation are set by Ikaros.
Winandy S, Wu L, Wang JH, Georgopoulos K
The Journal of experimental medicine. 1999 ; 190 (8) : 1039-1048.
PMID 10523602
 
Defects in hemopoietic stem cell activity in Ikaros mutant mice.
Nichogiannopoulou A, Trevisan M, Neben S, Friedrich C, Georgopoulos K
The Journal of experimental medicine. 1999 ; 190 (9) : 1201-1214.
PMID 10544193
 
Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.
Yoshida S, Kaneita Y, Aoki Y, Seto M, Mori S, Moriyama M
Oncogene. 1999 ; 18 (56) : 7994-7999.
PMID 10637510
 
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.
Hosokawa Y, Maeda Y, Ichinohasama R, Miura I, Taniwaki M, Seto M
Blood. 2000 ; 95 (8) : 2719-2721.
PMID 10753856
 
Ikaros interactions with CtBP reveal a repression mechanism that is independent of histone deacetylase activity.
Koipally J, Georgopoulos K
The Journal of biological chemistry. 2000 ; 275 (26) : 19594-19602.
PMID 10766745
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . IKZF1 (Ikaros family zinc finger 1). Atlas Genet Cytogenet Oncol Haematol. August 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/IkarosID258.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37660/1/08-2000-IkarosID258.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 13:02:33 CEST 2013

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