Format

Send to:

Choose Destination

IKZF3 IKAROS family zinc finger 3 [ Homo sapiens (human) ]

Gene ID: 22806, updated on 17-Jun-2019

Summary

Official Symbol
IKZF3provided by HGNC
Official Full Name
IKAROS family zinc finger 3provided by HGNC
Primary source
HGNC:HGNC:13178
See related
Ensembl:ENSG00000161405 MIM:606221
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
AIO; AIOLOS; ZNFN1A3
Summary
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Expression
Biased expression in lymph node (RPKM 17.4), spleen (RPKM 11.5) and 10 other tissues See more
Orthologs

Genomic context

See IKZF3 in Genome Data Viewer
Location:
17q12-q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (39757715..39864312, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37913968..38020441, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene migration and invasion enhancer 1 Neighboring gene growth factor receptor bound protein 7 Neighboring gene keratin 8 pseudogene 34 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene zona pellucida binding protein 2 Neighboring gene GSDMB 5' regulatory region Neighboring gene gasdermin B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif interacts with IKZF3; predicted interaction to be relevant to gene regulation PubMed
vif HIV-1 Vif downregulates the expression of IKAROS family zinc finger 3 (IKZF3) in Vif-expression T cells PubMed
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that IKZF3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with IKZF3 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell activation IEA
Inferred from Electronic Annotation
more info
 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of B cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lymphocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
zinc finger protein Aiolos
Names
zinc finger DNA binding protein Aiolos
zinc finger protein, subfamily 1A, 3 (Aiolos)

NCBI Reference Sequences (RefSeq)

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_029104.2 RefSeqGene

    Range
    5001..111474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257408.2NP_001244337.1  zinc finger protein Aiolos isoform 7

    See identical proteins and their annotated locations for NP_001244337.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (7, also known as Aio-del2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377973
    Consensus CDS
    CCDS58540.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000438972.1, ENST00000535189.5
    Conserved Domains (3) summary
    COG5048
    Location:45185
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:86106
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99123
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001257409.2NP_001244338.1  zinc finger protein Aiolos isoform 8

    See identical proteins and their annotated locations for NP_001244338.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8, also known as Aio-del2,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377975
    Consensus CDS
    CCDS58539.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000403776.2, ENST00000439167.6
    Conserved Domains (2) summary
    sd00017
    Location:86106
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99123
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001257410.2NP_001244339.1  zinc finger protein Aiolos isoform 9

    See identical proteins and their annotated locations for NP_001244339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (9, also known as Aio-del3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377976
    Consensus CDS
    CCDS58544.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367194.2, ENST00000377958.6
    Conserved Domains (4) summary
    COG5048
    Location:58132
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:6181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:5981
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:7396
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001257411.2NP_001244340.1  zinc finger protein Aiolos isoform 10

    See identical proteins and their annotated locations for NP_001244340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (10, also known as Aio-del3,4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377977
    Consensus CDS
    CCDS58543.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367179.3, ENST00000377944.7
    Conserved Domains (2) summary
    COG5189
    Location:3378
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:6178
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. NM_001257412.2NP_001244341.1  zinc finger protein Aiolos isoform 11

    See identical proteins and their annotated locations for NP_001244341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11, also known as Aio-del3,4,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377978
    Consensus CDS
    CCDS58542.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000377741.2, ENST00000394189.6
  6. NM_001257413.2NP_001244342.1  zinc finger protein Aiolos isoform 12

    See identical proteins and their annotated locations for NP_001244342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (12, also known as Aio-del3,4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377979
    Consensus CDS
    CCDS58541.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367188.2, ENST00000377952.6
  7. NM_001257414.2NP_001244343.1  zinc finger protein Aiolos isoform 13

    See identical proteins and their annotated locations for NP_001244343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (13, also known as Aio-del4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377980
    Consensus CDS
    CCDS58545.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367180.3, ENST00000377945.7
  8. NM_001284514.1NP_001271443.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AI866838, AY377981
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000485515.1, ENST00000623724.3
  9. NM_001284515.2NP_001271444.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377982
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9
  10. NM_001284516.1NP_001271445.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AI866838, AK301250
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000462452.1, ENST00000583368.1
  11. NM_012481.5NP_036613.2  zinc finger protein Aiolos isoform 1

    See identical proteins and their annotated locations for NP_036613.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Aio-1).
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838
    Consensus CDS
    CCDS11346.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000344544.3, ENST00000346872.8
    Conserved Domains (3) summary
    COG5048
    Location:79219
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133157
    zf-H2C2_2; Zinc-finger double domain
  12. NM_183228.3NP_899051.1  zinc finger protein Aiolos isoform 2

    See identical proteins and their annotated locations for NP_899051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as Aio-del4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292565
    Consensus CDS
    CCDS11347.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000420463.1, ENST00000467757.5
    Conserved Domains (2) summary
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133157
    zf-H2C2_2; Zinc-finger double domain
  13. NM_183229.3NP_899052.1  zinc finger protein Aiolos isoform 3

    See identical proteins and their annotated locations for NP_899052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3, also known as Aio-del5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292566
    Consensus CDS
    CCDS11348.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000345622.3, ENST00000351680.7
    Conserved Domains (2) summary
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133157
    zf-H2C2_2; Zinc-finger double domain
  14. NM_183230.3NP_899053.1  zinc finger protein Aiolos isoform 4

    See identical proteins and their annotated locations for NP_899053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4, also known as Aio-del6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292567
    Consensus CDS
    CCDS11349.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000344471.3, ENST00000350532.7
    Conserved Domains (3) summary
    COG5048
    Location:79219
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133157
    zf-H2C2_2; Zinc-finger double domain
  15. NM_183231.3NP_899054.1  zinc finger protein Aiolos isoform 5

    See identical proteins and their annotated locations for NP_899054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5, also known as Aio-del4,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292568
    Consensus CDS
    CCDS11350.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000403027.2, ENST00000439016.2
  16. NM_183232.3NP_899055.1  zinc finger protein Aiolos isoform 6

    See identical proteins and their annotated locations for NP_899055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (6, also known as Aio-del5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292569
    Consensus CDS
    CCDS11351.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000341977.3, ENST00000346243.7
    Conserved Domains (3) summary
    COG5048
    Location:79241
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133157
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    39757715..39864312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center