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

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
191295202009Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia.385
184087102008BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros.342
198381932009Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.332
201390932010Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia.150
220461412011Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.90
239741922013Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL.84
197703812009IKZF1 (Ikaros) deletions in BCR-ABL1-positive acute lymphoblastic leukemia are associated with short disease-free survival and high rate of cumulative incidence of relapse: a GIMEMA AL WP report.80
197703812009IKZF1 (Ikaros) deletions in BCR-ABL1-positive acute lymphoblastic leukemia are associated with short disease-free survival and high rate of cumulative incidence of relapse: a GIMEMA AL WP report.80
223682722012Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.79
204455782010IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL.77

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/favicon/favicon-16x16.png