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IKZF1 IKAROS family zinc finger 1 (Ikaros) [ Homo sapiens (human) ]

Gene ID: 10320, updated on 17-Feb-2015
Official Symbol
IKZF1provided by HGNC
Official Full Name
IKAROS family zinc finger 1 (Ikaros)provided by HGNC
Primary source
HGNC:HGNC:13176
See related
Ensembl:ENSG00000185811; HPRD:04318; MIM:603023; Vega:OTTHUMG00000155907
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IK1; LYF1; LyF-1; 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]
Annotation information
Annotation category: partial on reference assembly
Orthologs
See IKZF1 in MapViewer
Location:
7p12.2
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (50304782..50405101)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50344378..50367358) , (50444231..50472799)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein-like 2 (nucleolar) pseudogene 1 Neighboring gene zona pellucida binding protein Neighboring gene chromosome 7 open reading frame 72 Neighboring gene fidgetin-like 1 Neighboring gene dopa decarboxylase (aromatic L-amino acid decarboxylase) Neighboring gene DDC antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat Ikaros is identified to interact with HIV-1 Tat in Jurkat cell by GST pull-down and by WB PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Peyer's patch development IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
chromatin modification IEA
Inferred from Electronic Annotation
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
lymph node development IEA
Inferred from Electronic Annotation
more info
 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
natural killer cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NK T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neutrophil differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
pericentric heterochromatin IEA
Inferred from Electronic Annotation
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
DNA-binding protein Ikaros
Names
DNA-binding protein Ikaros
CLL-associated antigen KW-6
ikaros family zinc finger protein 1
lymphoid transcription factor LyF-1
protein phosphatase 1, regulatory subunit 92
zinc finger protein, subfamily 1A, 1 (Ikaros)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034231.1 RefSeqGene

    Range
    5001..106019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001220765.2NP_001207694.1  DNA-binding protein Ikaros isoform 2

    See proteins identical to NP_001207694.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2, also known as Ikx) is shorter than isoform 1, and it contains three N-terminal zinc finger motifs for high affinity DNA binding (PMID:11489963). Both variants 2 and 14 encode isoform 2.
    Source sequence(s)
    AY377974, BC018349, BM148203, DB148957, JX459579
    Consensus CDS
    CCDS59055.1
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (1) summary
    pfam13465
    Location:132156
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001220767.2NP_001207696.1  DNA-binding protein Ikaros isoform 4

    See proteins identical to NP_001207696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (4, also known as Ik-2(del) as described in PMID:9892693) is shorter than isoform 1. This isoform contains three N-terminal zinc finger motifs for high affinity DNA binding (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (2) summary
    COG5048
    Location:1131
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:7297
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001220768.2NP_001207697.1  DNA-binding protein Ikaros isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (5, also known as Ik-3 as described in PMID:12937159) is shorter than isoform 1. This isoform contains three N-terminal zinc finger motifs for high affinity DNA binding (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    Consensus CDS
    CCDS75597.1
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Related
    ENSP00000349928, ENST00000357364
    Conserved Domains (2) summary
    COG5048
    Location:143322
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:132156
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001220770.2NP_001207699.1  DNA-binding protein Ikaros isoform 7

    See proteins identical to NP_001207699.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon in both the 5' and central coding regions, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (7, also known as Ik-4(del) as described in PMID:9892693), is shorter than isoform 1. This isoform contains only two N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (3) summary
    COG5048
    Location:1112
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:5880
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:7297
    zf-H2C2_2; Zinc-finger double domain
  5. NM_001220771.2NP_001207700.1  DNA-binding protein Ikaros isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three consecutive alternate in-frame exons in the central coding region, compared to variant 1. The encoded isoform (8, also known as Ik-5 as described in PMID:12937159) is shorter than isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant-negative isoform.
    Source sequence(s)
    BC018349, JX459579
    Consensus CDS
    CCDS69299.1
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Related
    ENSP00000342485, ENST00000349824
  6. NM_001291837.1NP_001278766.1  DNA-binding protein Ikaros isoform 2

    See proteins identical to NP_001278766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 5' UTR, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2, also known as Ikx) is shorter than isoform 1, and it contains three N-terminal zinc finger motifs for high affinity DNA binding (PMID:11489963). Both variants 2 and 14 encode isoform 2.
    Source sequence(s)
    BC018349, DB122945, JX459579
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (1) summary
    pfam13465
    Location:132156
    zf-H2C2_2; Zinc-finger double domain
  7. NM_001291838.1NP_001278767.1  DNA-binding protein Ikaros isoform 3

    See proteins identical to NP_001278767.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-2) differs in the 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3, also known as Ik-2) is shorter than isoform 1, and is localized to the nucleus and contains three N-terminal zinc finger motifs for high affinity DNA binding (PMID:9892693).
    Source sequence(s)
    AK303586, DB122945, JX459579
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (2) summary
    COG5048
    Location:1131
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:7297
    zf-H2C2_2; Zinc-finger double domain
  8. NM_001291839.1NP_001278768.1  DNA-binding protein Ikaros isoform 6

    See proteins identical to NP_001278768.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-4) differs in the 5' UTR, and lacks an alternate in-frame exon in both the 5' and central coding regions, compared to variant 1. The encoded isoform (6, also known as Ik-4 as described in PMID:12937159), is shorter than isoform 1. This isoform contains only two N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    BC018349, DC391353, JX459579
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (3) summary
    COG5048
    Location:1112
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:5880
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:7297
    zf-H2C2_2; Zinc-finger double domain
  9. NM_001291840.1NP_001278769.1  DNA-binding protein Ikaros isoform Ik-6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-6) lacks four consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (Ik-6) is shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs, is localized to the cytoplasm and functions as a non-DNA-binding, dominant-negative isoform (PMIDs:12937159, 10463586).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
  10. NM_001291841.1NP_001278770.1  DNA-binding protein Ikaros isoform Ik-7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-7) lacks two consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (Ik-7) is shorter than isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (1) summary
    sd00017
    Location:5681
    ZF_C2H2; Zinc finger, C2H2 type
  11. NM_001291842.1NP_001278771.1  DNA-binding protein Ikaros isoform Ik-7(del)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-7(del)) lacks two consecutive in-frame exons in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (Ik-7(del)) is shorter than isoform 1. This isoform contains only one N-terminal zinc finger motif, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Conserved Domains (1) summary
    sd00017
    Location:5681
    ZF_C2H2; Zinc finger, C2H2 type
  12. NM_001291843.1NP_001278772.1  DNA-binding protein Ikaros isoform Ik-8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-8) lacks three consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (Ik-8) is shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
  13. NM_001291844.1NP_001278773.1  DNA-binding protein Ikaros isoform Ik-8(del)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ik-8(del)) lacks three consecutive in-frame exons in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (Ik-8(del)) is shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs, and represents a non-DNA-binding, dominant-negative isoform (PMID:9892693).
    Source sequence(s)
    JX459579, U40462
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
  14. NM_001291845.1NP_001278774.1  DNA-binding protein Ikaros isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) lacks five 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (15) has a distinct C-terminus and is significantly shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs and is likely non-DNA-binding.
    Source sequence(s)
    BC064594, DB148957
    UniProtKB/TrEMBL
    C9JTB0
  15. NM_001291846.1NP_001278775.1  DNA-binding protein Ikaros isoform 16

    See proteins identical to NP_001278775.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) lacks five 3' exons but contains two alternate 3' exons, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (16) has a distinct C-terminus and is significantly shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs and is likely non-DNA-binding. Both variants 16 and 17 encode isoform 16.
    Source sequence(s)
    AW337855, BM148203, BU537824, DB148957
  16. NM_001291847.1NP_001278776.1  DNA-binding protein Ikaros isoform 16

    See proteins identical to NP_001278776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) differs in the 5' UTR, and lacks five 3' exons but contains two alternate 3' exons, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (16) has a distinct C-terminus and is significantly shorter than isoform 1. This isoform contains no N-terminal zinc finger motifs and is likely non-DNA-binding. Both variants 16 and 17 encode isoform 16.
    Source sequence(s)
    AW337855, BU537824, DB122945
  17. NM_006060.5NP_006051.1  DNA-binding protein Ikaros isoform 1

    See proteins identical to NP_006051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Ik-1 as described in PMID:12937159). This isoform contains four N-terminal zinc finger motifs, binds DNA, and is localized to the nucleus.
    Source sequence(s)
    BM148203, DB148957, JX459579, U40462
    Consensus CDS
    CCDS75596.1
    UniProtKB/Swiss-Prot
    Q13422
    UniProtKB/TrEMBL
    R9R4D9
    Related
    ENSP00000331614, OTTHUMP00000208887, ENST00000331340, OTTHUMT00000342242
    Conserved Domains (2) summary
    COG5048
    Location:144218
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:132156
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38 Primary Assembly

    Range
    50304782..50405101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    50346669..50369648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NC_018918.2 Alternate CHM1_1.1

    Range
    50446524..50475092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    50224730..50247709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. AC_000139.1 Alternate HuRef

    Range
    50294198..50322765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001220766.1: Suppressed sequence

    Description
    NM_001220766.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
  2. NM_001220769.1: Suppressed sequence

    Description
    NM_001220769.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
  3. NM_001220772.1: Suppressed sequence

    Description
    NM_001220772.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  4. NM_001220773.1: Suppressed sequence

    Description
    NM_001220773.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  5. NM_001220774.1: Suppressed sequence

    Description
    NM_001220774.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  6. NM_001220775.1: Suppressed sequence

    Description
    NM_001220775.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  7. NM_001220776.1: Suppressed sequence

    Description
    NM_001220776.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.