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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]
IKZF1 (IKAROS Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with IKZF1 include Immunodeficiency, Common Variable, 13 and Severe Cutaneous Adverse Reaction. Among its related pathways are Hematopoietic Stem Cell Differentiation and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is IKZF3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | TAS,IDA | 21548011 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 21548011 |
GO:0005654 | nucleoplasm | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0031618 | nuclear pericentric heterochromatin | IDA | 21548011 |
GO:0032991 | protein-containing complex | IMP | 15491138 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007498 | mesoderm development | TAS | 8543809 |
GO:0030098 | lymphocyte differentiation | IMP | 17934067 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 12a | · | 12b | · | 12c | ^ | 13 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: | |||||||
SP11: | |||||||
SP12: | |||||||
SP13: | |||||||
SP14: | |||||||
SP15: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IKZF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IKZF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ikzf1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IKZF1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IKZF1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IKZF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IKZF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IKZF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ikzf1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ikzf1 30 31 |
|
OneToOne | |
znfn1a1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11721 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10790 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636776 | Likely Pathogenic: not provided | 50,382,708(+) | G/T | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
636795 | Uncertain Significance: not provided | 50,319,068(+) | G/A | MISSENSE_VARIANT | |
636929 | Uncertain Significance: not provided | 50,382,553(+) | CCAGTGCAAT/C | INFRAME_DELETION,INTRON_VARIANT | |
692112 | Pathogenic: Immunodeficiency, common variable, 13 | 50,382,664(+) | C/A | NONSENSE,INTRON_VARIANT | |
810093 | Uncertain Significance: not provided | 50,387,393(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv27276 | CNV | loss | 19812545 |
esv3367345 | CNV | duplication | 20981092 |
nsv1016665 | CNV | gain | 25217958 |
nsv1076892 | CNV | deletion | 25765185 |
nsv473148 | CNV | novel sequence insertion | 20440878 |
nsv474228 | CNV | novel sequence insertion | 20440878 |
nsv475031 | CNV | novel sequence insertion | 20440878 |
nsv476664 | CNV | novel sequence insertion | 20440878 |
nsv479142 | CNV | novel sequence insertion | 20440878 |
nsv479143 | CNV | novel sequence insertion | 20440878 |
nsv479529 | CNV | novel sequence insertion | 20440878 |
nsv480543 | CNV | novel sequence insertion | 20440878 |
nsv481627 | CNV | novel sequence insertion | 20440878 |
nsv522250 | CNV | loss | 19592680 |
nsv606897 | CNV | gain | 21841781 |
nsv950213 | CNV | duplication | 24416366 |
nsv950215 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency, common variable, 13 |
|
|
severe cutaneous adverse reaction |
|
|
leukemia |
|
|
b-cell adult acute lymphocytic leukemia |
|
|
childhood b-cell acute lymphoblastic leukemia |
|
|