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

    Gene ID: 22806, updated on 12-May-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 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (39757715..39864188, 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_001257408.1NP_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, 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_001257409.1NP_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, 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_001257410.1NP_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, 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_001257411.1NP_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, 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_001257412.1NP_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, AI866838, AY377978
      Consensus CDS
      CCDS58542.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000377741.2, ENST00000394189.6
    6. NM_001257413.1NP_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, AI866838, AY377979
      Consensus CDS
      CCDS58541.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000367188.2, ENST00000377952.6
    7. NM_001257414.1NP_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, 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_001284515.1NP_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, 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_183228.2NP_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_183229.2NP_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_183230.2NP_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_183231.2NP_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_183232.2NP_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.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      39757715..39864188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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