Seroatlas · Human Serome Atlas

IKZF1

DNA-binding protein Ikaros

Also known as: hIk-1, Hs.54452, IKAROS, IKZF1_HUMAN, LyF-1, PPP1R92, ZNFN1A1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q13422
Gene: IKZF1
Ensembl: ENSG00000185811
Chromosome: 7
Canonical length: 519 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

519 residues, UniProt reviewed canonical sequence.

>Q13422|IKZF1
     1  MDADEGQDMS QVSGKESPPV SDTPDEGDEP MPIPEDLSTT SGGQQSSKSD RVVASNVKVE
    61  TQSDEENGRA CEMNGEECAE DLRMLDASGE KMNGSHRDQG SSALSGVGGI RLPNGKLKCD
   121  ICGIICIGPN VLMVHKRSHT GERPFQCNQC GASFTQKGNL LRHIKLHSGE KPFKCHLCNY
   181  ACRRRDALTG HLRTHSVGKP HKCGYCGRSY KQRSSLEEHK ERCHNYLESM GLPGTLYPVI
   241  KEETNHSEMA EDLCKIGSER SLVLDRLASN VAKRKSSMPQ KFLGDKGLSD TPYDSSASYE
   301  KENEMMKSHV MDQAINNAIN YLGAESLRPL VQTPPGGSEV VPVISPMYQL HKPLAEGTPR
   361  SNHSAQDSAV ENLLLLSKAK LVPSEREASP SNSCQDSTDT ESNNEEQRSG LIYLTNHIAP
   421  HARNGLSLKE EHRAYDLLRA ASENSQDALR VVSTSGEQMK VYKCEHCRVL FLDHVMYTIH
   481  MGCHGFRDPF ECNMCGYHSQ DRYEFSSHIT RGEHRFHMS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IKZF1 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): 0.58
Highest tissue expression: 160 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 160 nTPM
thymus: 99 nTPM
lymph node: 81 nTPM
tonsil: 67 nTPM
appendix: 47 nTPM
spleen: 45 nTPM

Single-cell type

neutrophil progenitors: 1,673 nCPM
thymocytes: 748 nCPM
neutrophils: 695 nCPM
t-cells: 675 nCPM
nk-cells: 596 nCPM
microglia: 498 nCPM

Immune cell

naive CD4 T-cell: 47 nTPM
memory B-cell: 45 nTPM
intermediate monocyte: 44 nTPM
non-classical monocyte: 41 nTPM
naive B-cell: 38 nTPM
memory CD4 T-cell: 35 nTPM

Brain region

white matter: 21 nTPM
thalamus: 17 nTPM
medulla oblongata: 15 nTPM
spinal cord: 15 nTPM
pons: 13 nTPM
midbrain: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IKZF1.

Disease | AllUniProt

Conditions IKZF1 is implicated in, by any mechanism.

Immunodeficiency, common variable, 13 (CVID13) MIM:616873

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 457 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pancytopenia due to IKZF1 mutations
Acute lymphoid leukemia
Inherited Immunodeficiency Diseases
IKZF1-related disorder
Immunodeficiency

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): 0.16
gnomAD pLI: 1
gnomAD missense Z: 3.38
DepMap mean gene effect: -0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IKZF1 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 IKZF1 as an antibody target. Whether an autoantibody or antibody against IKZF1 could matter depends on whether native IKZF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IKZF1 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 IKZF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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