| Entrez Gene ID |
10320 (NCBI Gene) |
| Official Gene Symbol |
IKZF1 (GeneCards) |
| Number of variants in IKZF1 in this database |
3 (view all the variants) |
| Full name |
IKAROS family zinc finger 1 |
| Band |
7p12.2 |
| Other IDs |
Vega:
OTTHUMG00000155907
OMIM:
603023
HGNC:
HGNC:13176
Ensembl:
ENSG00000185811
|
| Other names |
IK1,
LYF1,
LyF-1,
CVID13,
IKAROS,
PPP1R92,
PRO0758,
ZNFN1A1,
Hs.54452
|
| 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. 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] |