InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IKZF1

Summary

InnateDB Protein

IDBP-16399.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IKZF1

Protein Name

IKAROS family zinc finger 1 (Ikaros)

Synonyms

Hs.54452; IK1; IKAROS; LyF-1; LYF1; PPP1R92; PRO0758; ZNFN1A1;

Species

Homo sapiens

Ensembl Protein

ENSP00000331614

InnateDB Gene

IDBG-16397 (IKZF1)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:23071339}. 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). {ECO:0000250}.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). {ECO:0000250}.Isoform Ik6: Cytoplasm {ECO:0000250}.

Disease Associations

Note=Defects in IKZF1 are frequent occurrences (28.6%) in acute lymphoblasic leukemia (ALL). Such alterations or deletions lead to poor prognosis for ALL.Note=Chromosomal aberrations involving IKZF1 are a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;7)(q27;p12), with BCL6.

Tissue Specificity

Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.

Comments

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