IKZF1 (Ikaros family zinc finger 1)

Identity

Other names	IK1
	LYF1
	ZNFN1A1 (zinc finger protein, subfamily 1A, 1)
HGNC	IKZF1
Location	7p12
Location_base_pair	Starts at 50314924 and ends at 50440292 bp from pter ( according to hg18-Mar_2006).

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	IKZF1   13176
Entrez_Gene	IKZF1  10320  IKAROS family zinc finger 1 (Ikaros)
	Cards
Atlas	IkarosID258
GeneCards	IKZF1
Ensembl	IKZF1 [Search_View]   ENSG00000185811 [Gene_View]  IKZF1 [Vega]
Genatlas	IKZF1
GeneLynx	IKZF1
eGenome	IKZF1
euGene	10320
	Genomic and cartography
GoldenPath	IKZF1  -  7p12   chr7:50314924-50440292 +  7pter-7qter   [Description]    (hg18-Mar_2006)
Ensembl	IKZF1 - 7pter-7qter [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	IKZF1
	Gene and transcription
Genbank	AF116605 [ ENTREZ ]
Genbank	AF432219 [ ENTREZ ]
Genbank	AM085310 [ ENTREZ ]
Genbank	AY377974 [ ENTREZ ]
Genbank	BC018349 [ ENTREZ ]
RefSeq	NM_006060 [ SRS ]    NM_006060 [ ENTREZ ]
RefSeq	AC_000050 [ SRS ]    AC_000050 [ ENTREZ ]
RefSeq	AC_000068 [ SRS ]    AC_000068 [ ENTREZ ]
RefSeq	AC_000139 [ SRS ]    AC_000139 [ ENTREZ ]
RefSeq	NC_000007 [ SRS ]    NC_000007 [ ENTREZ ]
RefSeq	NT_033968 [ SRS ]    NT_033968 [ ENTREZ ]
RefSeq	NT_079592 [ SRS ]    NT_079592 [ ENTREZ ]
RefSeq	NW_001839007 [ SRS ]    NW_001839007 [ ENTREZ ]
RefSeq	NW_923273 [ SRS ]    NW_923273 [ ENTREZ ]
CCDS	IKZF1 CCDS - NCBI
AceView	IKZF1 AceView - NCBI
Unigene	Hs.488251 [ SRS ]    Hs.488251 [ NCBI ]     HS488251 [ spliceNest ]
Fast-db	5300 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q13422 [ SRS]    Q13422 [ EXPASY ]     Q13422 [ INTERPRO ]     Q13422 [ UNIPROT ] Q13422 [ VarSplice ]
Prosite	PS00028 ZINC_FINGER_C2H2_1 [ SRS ]    PS00028 ZINC_FINGER_C2H2_1 [ Expasy ]
Prosite	PS50157 ZINC_FINGER_C2H2_2 [ SRS ]    PS50157 ZINC_FINGER_C2H2_2 [ Expasy ]
Interpro	IPR007087 Znf_C2H2 [ SRS ]    IPR007087 Znf_C2H2 [ EBI ]
Interpro	IPR015880 Znf_C2H2-like [ SRS ]    IPR015880 Znf_C2H2-like [ EBI ]
Interpro	IPR013087 Znf_C2H2/integrase_DNA-bd [ SRS ]    IPR013087 Znf_C2H2/integrase_DNA-bd [ EBI ]
CluSTr	Q13422
Pfam	PF00096 zf-C2H2 [ SRS ]    PF00096 zf-C2H2 [ Sanger ]    pfam00096 [ NCBI-CDD ]
Smart	SM00355 ZnF_C2H2 [EMBL]
Blocks	Q13422
HPRD	04318
	Protein Interaction databases
DIP	Q13422
IntAct	Q13422
	Polymorphism : SNP, mutations, diseases
OMIM	603023    [ map ]
GENECLINICS	603023
SNP	IKZF1 [dbSNP-NCBI]
SNP	NM_006060 [SNP-NCI]
SNP	IKZF1 [GeneSNPs - Utah]  IKZF1] [HGBASE - SRS]
HAPMAP	IKZF1 [HAPMAP]
COSMIC	IKZF1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	IKZF1 [Translocation breakpoints In Cancer]
HGMD	IKZF1
Genetic Association	IKZF1
CDC HuGE	IKZF1
	General knowledge
Family Browser	IKZF1 [UCSC Family Browser]
SOURCE	NM_006060
SMD	Hs.488251
SAGE	Hs.488251
GO	DNA binding [Amigo]  DNA binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	mesoderm development [Amigo]  mesoderm development
GO	zinc ion binding [Amigo]  zinc ion binding
GO	metal ion binding [Amigo]  metal ion binding
PubGene	IKZF1
TreeFam	IKZF1
CTD	10320 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	IKZF1 Related clones (RZPD - Berlin)
	PubMed
PubMed	43 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	08-2000	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:42:17 2008