Homo sapiens Gene: IKZF1
Summary
InnateDB Gene IDBG-16397.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IKZF1
Gene Name IKAROS family zinc finger 1 (Ikaros)
Synonyms Hs.54452; IK1; IKAROS; LyF-1; LYF1; PPP1R92; PRO0758; ZNFN1A1;
Species Homo sapiens
Ensembl Gene ENSG00000185811
Encoded Proteins
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
IKAROS family zinc finger 1 (Ikaros)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a 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 are 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 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:50304124-50405101
Strand Forward strand
Band p12.2
Transcripts
ENST00000331340 ENSP00000331614
ENST00000359197 ENSP00000352123
ENST00000357364 ENSP00000349928
ENST00000343574 ENSP00000342750
ENST00000349824 ENSP00000342485
ENST00000346667 ENSP00000340080
ENST00000413698 ENSP00000388478
ENST00000438033 ENSP00000396554
ENST00000439701 ENSP00000413025
ENST00000440768 ENSP00000401507
ENST00000426121 ENSP00000409588
ENST00000484847
ENST00000492782
ENST00000462201
ENST00000471793
ENST00000492119
ENST00000612658 ENSP00000483016
ENST00000615491 ENSP00000478368
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 52 [view]
Protein-DNA 7 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001779 natural killer cell differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007049 cell cycle
GO:0007498 mesoderm development
GO:0016568 chromatin modification
GO:0030097 hemopoiesis
GO:0030183 B cell differentiation
GO:0030217 T cell differentiation
GO:0030900 forebrain development
GO:0040018 positive regulation of multicellular organism growth
GO:0045660 positive regulation of neutrophil differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048535 lymph node development
GO:0048538 thymus development
GO:0048541 Peyer's patch development
GO:0048732 gland development
GO:0051138 positive regulation of NK T cell differentiation
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005634 nucleus
GO:0005721 centromeric heterochromatin
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Calcineurin-regulated NFAT-dependent transcription in lymphocytes
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.435949 Hs.488251 Hs.602345 Hs.731495 Hs.739003
RefSeq 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_001291838 NM_001291839 NM_001291840 NM_001291841 NM_001291842 NM_001291843 NM_001291844 NM_001291845 NM_006060
HUGO
OMIM
CCDS CCDS59055 CCDS69299 CCDS75596 CCDS75597
HPRD 04318
IMGT
EMBL
GenPept
RNA Seq Atlas