IKZF1 (Ikaros family zinc finger 1)

2000-08-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
IKZF1
LOCATION
7p12.2
LOCUSID
10320
ALIAS
CVID13,Hs.54452,IK1,IKAROS,LYF1,LyF-1,PPP1R92,PRO0758,ZNFN1A1
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

3629 bp mRNA; coding sequence: 1559 bp; 6 different splicings (--> 6 isoform proteins: ik1-ik6)

Proteins

Description

519 amino acids; 58 kDa; possesses 2 Zinc-finger (C2H2-type) domains: one with 4 ZnF, the second with2 ZnF; DNA binding

Expression

specificity for hematopoietic organs in the foetus and in the adult as well

Localisation

nuclear

Function

transcription regulator; can repress transcription through the recruitment of histone deacetylase complexes; role in conjunction with Aiolos; hemopoietic-specific zinc finger protein regulator of B and T-cell differentiation

Implicated in

Entity name
t(3;7)(q27;p12) diffuse large B-cell lymphoma (DLCL) --> BCL6 / IKZF1
Note
only 2 cases to date
Hybrid gene
5 Ikaros - 3 BCL6 fusion transcript; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation

Bibliography

Pubmed IDLast YearTitleAuthors
94139931997Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin.Brown KE et al
91436851997The role of the Ikaros gene in lymphocyte development and homeostasis.Georgopoulos K et al
107538562000The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma.Hosokawa Y et al
107667452000Ikaros interactions with CtBP reveal a repression mechanism that is independent of histone deacetylase activity.Koipally J et al
105441931999Defects in hemopoietic stem cell activity in Ikaros mutant mice.Nichogiannopoulou A et al
105236021999Pre-T cell receptor (TCR) and TCR-controlled checkpoints in T cell differentiation are set by Ikaros.Winandy S et al
106375101999Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.Yoshida S et al

Other Information

Locus ID:

NCBI: 10320
MIM: 603023
HGNC: 13176
Ensembl: ENSG00000185811

Variants:

dbSNP: 10320
ClinVar: 10320
TCGA: ENSG00000185811
COSMIC: IKZF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185811ENST00000331340Q13422
ENSG00000185811ENST00000343574Q13422
ENSG00000185811ENST00000346667A0A0A0MRA0
ENSG00000185811ENST00000349824Q13422
ENSG00000185811ENST00000357364Q13422
ENSG00000185811ENST00000359197Q13422
ENSG00000185811ENST00000413698C9JTB0
ENSG00000185811ENST00000426121Q3T907
ENSG00000185811ENST00000438033Q13422
ENSG00000185811ENST00000439701Q13422
ENSG00000185811ENST00000440768A0A0A0MST1
ENSG00000185811ENST00000492782A0A2R8Y4D3
ENSG00000185811ENST00000612658R9R4D9
ENSG00000185811ENST00000615491A0A087WU46
ENSG00000185811ENST00000642219A0A2R8YFR0
ENSG00000185811ENST00000645066A0A2R8Y4T7
ENSG00000185811ENST00000646110A0A2R8Y4D3

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375780682024ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.0
383207372024IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.0
384380842024Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation.0
384945892024IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis.0
385376332024A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children.0
387340372024A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.0
375780682024ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.0
383207372024IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.0
384380842024Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation.0
384945892024IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis.0
385376332024A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children.0
387340372024A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.0
364338032023Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.10
367643852023Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.3
368346922023IKAROS in Acute Leukemia: A Positive Influencer or a Mean Hater?3

Citation

Jean-Loup Huret

IKZF1 (Ikaros family zinc finger 1)

Atlas Genet Cytogenet Oncol Haematol. 2000-08-01

Online version: http://atlasgeneticsoncology.org/gene/258/gene-fusions/haematological-explorer/favicon/apple-touch-icon.png