IKZF1 - IKAROS family zinc finger 1 Gene
Also Known as IK1; LYF1; LyF-1; CVID13; IKAROS; PPP1R92; PRO0758; ZNFN1A1; Hs.54452
Species: Homo sapiens
About IKZF1
This gene has 22 transcripts (splice variants), 209 orthologues, 11 paralogues and is associated with 106 phenotypes. Biased expression in lymph node (RPKM 13.3), appendix (RPKM 8.6) and 10 other tissues.
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]
IKZF1 Products (18)
| mRNA | Protein | Name |
|---|---|---|
| NM_001220765.3 | NP_001207694.1 | DNA-binding protein Ikaros isoform 2 |
| NM_001220767.2 | NP_001207696.1 | DNA-binding protein Ikaros isoform 4 |
| NM_001220768.2 | NP_001207697.1 | DNA-binding protein Ikaros isoform 5 |
| NM_001220770.2 | NP_001207699.1 | DNA-binding protein Ikaros isoform 7 |
| NM_001220771.2 | NP_001207700.1 | DNA-binding protein Ikaros isoform 8 |
| NM_001291837.2 | NP_001278766.1 | DNA-binding protein Ikaros isoform 2 |
| NM_001291838.2 | NP_001278767.1 | DNA-binding protein Ikaros isoform 3 |
| NM_001291839.2 | NP_001278768.1 | DNA-binding protein Ikaros isoform 6 |
| NM_001291840.1 | NP_001278769.1 | DNA-binding protein Ikaros isoform Ik-6 |
| NM_001291841.1 | NP_001278770.1 | DNA-binding protein Ikaros isoform Ik-7 |
| NM_001291842.1 | NP_001278771.1 | DNA-binding protein Ikaros isoform Ik-7(del) |
| NM_001291843.1 | NP_001278772.1 | DNA-binding protein Ikaros isoform Ik-8 |
| NM_001291844.1 | NP_001278773.1 | DNA-binding protein Ikaros isoform Ik-8(del) |
| NM_001291845.2 | NP_001278774.1 | DNA-binding protein Ikaros isoform 15 |
| NM_001291846.2 | NP_001278775.1 | DNA-binding protein Ikaros isoform 16 |
| NM_001291847.2 | NP_001278776.1 | DNA-binding protein Ikaros isoform 16 |
| NM_001410879.1 | NP_001397808.1 | DNA-binding protein Ikaros isoform 17 |
| NM_006060.6 | NP_006051.1 | DNA-binding protein Ikaros isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
21548011 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15491138 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
15491138 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in erythrocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
17934067 | GOA |
| involved in lymphocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
17934067 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
21548011 | GOA |
| located in pericentric heterochromatin |
IDA
IDA: Inferred from direct assay
|
21548011 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
23071339 | GOA |
| part of protein-containing complex |
IMP
IMP: Inferred from mutant phenotype
|
15491138 | GOA |
IKZF1 Protein Structure
zf-H2C2_2: Zinc-finger double domain (132 - 155)
zf-H2C2_2: Zinc-finger double domain (159 - 182)
zf-H2C2_2: Zinc-finger double domain (188 - 211)
- 0
- 100
- 200
- 300
- 400
- 519 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA-binding protein Ikaros |
|
IKZF1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
IKZF1 | Q13422 | CTBP1 | Homo sapiens | Q13363-2 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545-3 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545-3 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | a8k932_human | Homo sapiens | A8K932 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | a8k932_human | Homo sapiens | A8K932 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | a8k932_human | Homo sapiens | A8K932 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | UBE2I | Homo sapiens | Q7KZS0 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM74A4 | Homo sapiens | Q5TZK3 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SHFL | Homo sapiens | Q9NUL5 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PNKP | Homo sapiens | Q96T60 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PNKP | Homo sapiens | Q96T60 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | ISCU | Homo sapiens | Q9H1K1 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PRKAB2 | Homo sapiens | O43741 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PRKAB2 | Homo sapiens | O43741 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | RAD51D | Homo sapiens | O75771 | 31515488 | |
|
Intra
|
IKZF1 | Q13422 | ZMAT2 | Homo sapiens | Q96NC0 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MCRS1 | Homo sapiens | Q96EZ8 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MCRS1 | Homo sapiens | Q96EZ8 | 33961781 | |
|
Intra
|
IKZF1 | Q13422 | DDX6 | Homo sapiens | P26196 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | BYSL | Homo sapiens | Q13895 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PSMA4 | Homo sapiens | P25789 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PSMA1 | Homo sapiens | P25786 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PSMA1 | Homo sapiens | P25786 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PSMA1 | Homo sapiens | P25786 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | LSM4 | Homo sapiens | Q9Y4Z0 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | LSM4 | Homo sapiens | Q9Y4Z0 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SPATC1L | Homo sapiens | Q9H0A9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | GLRX3 | Homo sapiens | O76003 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | NOC4L | Homo sapiens | Q9BVI4 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MORF4L1 | Homo sapiens | Q9UBU8 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MORF4L1 | Homo sapiens | Q9UBU8 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MORF4L2 | Homo sapiens | Q15014 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CKS1B | Homo sapiens | P61024 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CKS1B | Homo sapiens | P61024 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | AP1M1 | Homo sapiens | Q9BXS5 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SNW1 | Homo sapiens | Q13573 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SNW1 | Homo sapiens | Q13573 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FGF12 | Homo sapiens | P61328 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | ALKBH3 | Homo sapiens | Q96Q83 | 29892012 | |
|
Intra
|
IKZF1 | Q13422 | ALKBH3 | Homo sapiens | Q96Q83 | 31515488 | |
|
Intra
|
IKZF1 | Q13422 | ALKBH3 | Homo sapiens | Q96Q83 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PIN1 | Homo sapiens | Q13526 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | PIN1 | Homo sapiens | Q13526 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MTA1 | Homo sapiens | Q13330 | 33961781 | |
|
Intra
|
IKZF1 | Q13422 | MTA1 | Homo sapiens | Q13330 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MTA1 | Homo sapiens | Q13330 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | C8orf33 | Homo sapiens | Q9H7E9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | C1orf174 | Homo sapiens | Q8IYL3 | 31515488 | |
|
Intra
|
IKZF1 | Q13422 | C1orf174 | Homo sapiens | Q8IYL3 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM161A | Homo sapiens | Q3B820 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM161A | Homo sapiens | Q3B820 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM161A | Homo sapiens | Q3B820 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | RWDD2B | Homo sapiens | P57060 | 21516116 | |
|
Intra
|
IKZF1 | Q13422 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545 | 33961781 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545 | 21516116 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | CTBP2 | Homo sapiens | P56545 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FRMD6 | Homo sapiens | Q96NE9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FRMD6 | Homo sapiens | Q96NE9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FRMD6 | Homo sapiens | Q96NE9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM50B | Homo sapiens | Q9Y247 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | FAM50B | Homo sapiens | Q9Y247 | 21516116 | |
|
Intra
|
IKZF1 | Q13422 | ARMC7 | Homo sapiens | Q9H6L4 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SYT17 | Homo sapiens | Q9BSW7 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SYT17 | Homo sapiens | Q9BSW7 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | ZNF581 | Homo sapiens | Q9P0T4 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | ATOSB | Homo sapiens | Q7L5A3 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | ATOSB | Homo sapiens | Q7L5A3 | 29892012 | |
|
Intra
|
IKZF1 | Q13422 | ATOSB | Homo sapiens | Q7L5A3 | 31515488 | |
|
Intra
|
IKZF1 | Q13422 | GMCL2 | Homo sapiens | Q8NEA9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | GMCL2 | Homo sapiens | Q8NEA9 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SCNM1 | Homo sapiens | Q9BWG6 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | SCNM1 | Homo sapiens | Q9BWG6 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | DYRK2 | Homo sapiens | Q92630 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | DYRK2 | Homo sapiens | Q92630 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | DYRK2 | Homo sapiens | Q92630 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | WTAP | Homo sapiens | Q15007 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | WTAP | Homo sapiens | Q15007 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | WTAP | Homo sapiens | Q15007 | 33961781 | |
|
Intra
|
IKZF1 | Q13422 | WTAP | Homo sapiens | Q15007 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | MAD2L2 | Homo sapiens | Q9UI95 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | AEN | Homo sapiens | Q8WTP8 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | AIRIM | Homo sapiens | Q9NX04 | 25416956 | |
|
Intra
|
IKZF1 | Q13422 | AIRIM | Homo sapiens | Q9NX04 | 25416956 |
IKZF1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81282 | Ikaros Antibody (YA987) | WB, IP | Human |
| HY-P81282A | Ikaros Antibody (YA988) | IHC-P | Human |
| HY-P81282AA | Ikaros Antibody (YA988)(PBS only) | IHC-P | Human |
| HY-P84541 | Ikaros Antibody (YA4238) | ICC/IF, FC, ELISA | Human |
| HY-P84541A | Ikaros Antibody (YA4238)(PBS only) | ICC/IF, FC, ELISA | Human |
| HY-P85438 | Ikaros Antibody (YA5130) | WB | Human |
| HY-P85524 | Ikaros Antibody (YA5216) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Immunodeficiency, Common Variable, 13 |
|
|
| Diamond-Blackfan Anemia-Like |
|
|
| Severe Cutaneous Adverse Reaction |
|
|
| B-Cell Adult Acute Lymphocytic Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
|
|
| Leukemia |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
|
| B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Iamp21 |
|
|
| Pancytopenia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Combined Immunodeficiency |
|
|
| Lymphopenia |
|
|
| Adult Acute Lymphocytic Leukemia |
|
|
| Childhood Acute Lymphocytic Leukemia |
|
|
| B-Cell Lymphoma |
|
|
| Joubert Syndrome 6 |
|
|
| Trichorhinophalangeal Syndrome, Type I |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1 |
|
|
| Childhood B-Cell Acute Lymphoblastic Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma |
|
|
| Childhood Leukemia |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Dendritic Cell Deficiency |
|
|
| Down Syndrome |
|
|
| Hematologic Cancer |
|
|
| Agammaglobulinemia 4, Autosomal Recessive |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Trichorhinophalangeal Syndrome, Type Ii |
|
|
| Autosomal Recessive Intellectual Developmental Disorder |
|
|
| Systemic Lupus Erythematosus |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Myelodysplastic Syndrome |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | IKZF1 | RGD | RGD:1562979 |
| Macaca mulatta | IKZF1 | VGNC | VGNC:73585 |
| Canis familiaris | IKZF1 | VGNC | VGNC:41923 |
| Bos taurus | IKZF1 | VGNC | VGNC:30103 |
| Mus musculus | IKZF1 | MGD | MGI:1342540 |
| Felis catus | IKZF1 | VGNC | VGNC:102613 |
| Others | IKZF1 | NCBI |