IKZF3
Zinc finger protein Aiolos
Also known as: Aiolos, IKZF3_HUMAN, ZNFN1A3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKT9
- Gene
- IKZF3
- Ensembl
- ENSG00000161405
- Chromosome
- 17
- Canonical length
- 509 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
509 residues, UniProt reviewed canonical sequence.
>Q9UKT9|IKZF3
1 MEDIQTNAEL KSTQEQSVPA ESAAVLNDYS LTKSHEMENV DSGEGPANED EDIGDDSMKV
61 KDEYSERDEN VLKSEPMGNA EEPEIPYSYS REYNEYENIK LERHVVSFDS SRPTSGKMNC
121 DVCGLSCISF NVLMVHKRSH TGERPFQCNQ CGASFTQKGN LLRHIKLHTG EKPFKCHLCN
181 YACQRRDALT GHLRTHSVEK PYKCEFCGRS YKQRSSLEEH KERCRTFLQS TDPGDTASAE
241 ARHIKAEMGS ERALVLDRLA SNVAKRKSSM PQKFIGEKRH CFDVNYNSSY MYEKESELIQ
301 TRMMDQAINN AISYLGAEAL RPLVQTPPAP TSEMVPVISS MYPIALTRAE MSNGAPQELE
361 KKSIHLPEKS VPSERGLSPN NSGHDSTDTD SNHEERQNHI YQQNHMVLSR ARNGMPLLKE
421 VPRSYELLKP PPICPRDSVK VINKEGEVMD VYRCDHCRVL FLDYVMFTIH MGCHGFRDPF
481 ECNMCGYRSH DRYEFSSHIA RGEHRALLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IKZF3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 38 nTPM
- lymph node: 34 nTPM
- thymus: 21 nTPM
- spleen: 21 nTPM
- appendix: 18 nTPM
- small intestine: 11 nTPM
Single-cell type
- b-cells: 402 nCPM
- t-cells: 314 nCPM
- nk-cells: 310 nCPM
- plasma cells: 207 nCPM
- mast cells: 165 nCPM
- urothelial cells: 39 nCPM
Immune cell
- MAIT T-cell: 29 nTPM
- gdT-cell: 26 nTPM
- memory CD8 T-cell: 20 nTPM
- T-reg: 19 nTPM
- memory B-cell: 13 nTPM
- naive CD8 T-cell: 12 nTPM
Brain region
- white matter: 5.5 nTPM
- hippocampal formation: 5.2 nTPM
- choroid plexus: 5 nTPM
- cerebellum: 4.9 nTPM
- medulla oblongata: 4.9 nTPM
- cerebral cortex: 4.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IKZF3.
Disease | AllUniProt
Conditions IKZF3 is implicated in, by any mechanism.
- Immunodeficiency 84 (IMD84) MIM:619437
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 80 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 84
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.14
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- B cell differentiation
- mesoderm development
- regulation of apoptotic process
- regulation of B cell differentiation
- regulation of B cell proliferation
- regulation of lymphocyte differentiation
- regulation of transcription by RNA polymerase II
- response to bacterium
- T cell differentiation
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- histone deacetylase binding
- identical protein binding
- promoter-specific chromatin binding
- protein heterodimerization activity
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IKZF3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IKZF3 as an antibody target. Whether an autoantibody or antibody against IKZF3 could matter depends on whether native IKZF3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IKZF3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IKZF3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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