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IKZF1 (Ikaros family zinc finger 1)

Identity

Other namesIK1
LYF1
ZNFN1A1 (zinc finger protein, subfamily 1A, 1)
HGNC (Hugo) IKZF1
Location 7p12
Location_base_pair Starts at 50314924 and ends at 50440292 bp from pter ( according to hg18-Mar_2006)  [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]  IKZF1 [Vega]
AceView (NCBI)IKZF1
Genatlas (Paris)IKZF1
euGene (Indiana)10320
SOURCE (Stanford)NM_006060
Genomic and cartography
GoldenPath (UCSC)IKZF1  -  7p12   chr7:50314924-50440292 +  7pter-7qter   [Description]    (hg18-Mar_2006)
EnsemblIKZF1 - 7pter-7qter [CytoView]
Mapping of homologs : NCBIIKZF1 [Mapview]
OMIM603023   
Gene and transcription
Gene : Genbank (Entrez)AF116605 AF432219 AM085310 AY377974 BC018349
Reference sequence (RefSeq transcript) :SRSNM_006060
Reference transcript : EntrezNM_006060
RefSeq genomic : SRSAC_000050 AC_000068 AC_000139 NC_000007 NT_033968 NT_079592 NW_001839007 NW_923273
RefSeq genomic : EntrezAC_000050 AC_000068 AC_000139 NC_000007 NT_033968 NT_079592 NW_001839007 NW_923273
Consensus coding sequences : CCDS NCBIIKZF1
Cluster EST : UnigeneHs.488251 [ SRS ] Hs.488251 [ NCBI ]
Alternative Splicing : Fast-db (Paris)5300
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ13422 (SRS) Q13422 (Expasy) Q13422 (Uniprot)
With graphics : InterProQ13422
Splice isoforms : VarSplice FASTAQ13422(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domain 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 SRSzf-C2H2 (PF00096)   
Domain families : Pfam Sangerzf-C2H2 (PF00096)   
Domain families : Pfam NCBIpfam00096   
Domain families : Smart EMBLZnF_C2H2 (SM00355)
Blocks (Seattle)Q13422
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD04318
Protein Interaction databases
DIP (DOE-UCLA)Q13422
IntAct (EBI)Q13422
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIIKZF1
SNP : GeneSNP UtahIKZF1
SNP : HGBaseIKZF1
Genetic variants : HAPMAPIKZF1
Somatic Mutations in Cancer : COSMICIKZF1 
Mutations and Diseases : HGMDIKZF1
Hereditary diseases : OMIM603023   
Hereditary diseases : GENETests603023   
Diseases : Genetic AssociationIKZF1
General knowledge
Homologs : HomoloGeneIKZF1
Homology/Alignments : Family Browser UCSCIKZF1
Phylogenetic Trees/Animal Genes : TreeFamIKZF1
Chemical/Protein Interactions : CTD10320
Keywords Ontology : AmiGODNA binding  intracellular  nucleus  transcription  regulation of transcription, DNA-dependent  mesoderm development  zinc ion binding  metal ion binding  
Keywords Ontology : EGO-EBIDNA binding  intracellular  nucleus  transcription  regulation of transcription, DNA-dependent  mesoderm development  zinc ion binding  metal ion binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesIKZF1 Related clones (RZPD - Berlin)
Literature
PubMed47 Pubmed reference(s) in Entrez
PubGeneIKZF1

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

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indexed on : Sat Jun 27 16:39:44 CEST 2009
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