ANKHD1-EIF4EBP3 Gene

Name ANKHD1-EIF4EBP3 readthrough
Description The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The ANKHD1‐EIF4EBP3 fusion transcript – also referred to as MASK‐BP3 in the literature – arises from the alternative splicing and genomic fusion of two distinct loci. One partner, EIF4EBP3, encodes a translational repressor that normally binds eIF4E to inhibit cap‐dependent translation initiation, while the other, a mammalian homologue of Drosophila MASK (a protein characterized by multiple ankyrin repeats and a single KH domain, here represented as ANKHD1), is implicated in processes such as cell differentiation, survival, and proliferation. In the fusion transcript, an alternative reading frame is used for the region derived from EIF4EBP3, suggesting that the chimeric protein likely exhibits functions that differ from those of the canonical proteins. Both partners are functionally linked to downstream Ras/MAPK signalling, indicating that the ANKHD1‐EIF4EBP3 chimera may integrate signals from this pathway to modulate both translation control and cellular growth processes. Moreover, experimental findings in glioma cells have identified the ANKHD1‐EIF4EBP3 protein as a candidate substrate for arginine methylation by PRMT1, a modification that may influence protein interactions and function. Finally, unique intergenic exons present in this chimera have enabled its detection in a variety of normal tissues and cancer cells, underscoring its potential relevance in contexts such as differentiation and oncogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Francis Poulin, Andrea Brueschke, Nahum Sonenberg "}, {"type": "b", "children": [{"type": "t", "text": "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M310761200"}], "href": "https://doi.org/10.1074/jbc.M310761200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14557257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14557257"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Adriana da Silva Santos Duarte, Fabíola Traina, Patricia M Bergamo Favaro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterisation of a new splice variant of MASK-BP3(ARF) and MASK human genes, and their expression patterns during haematopoietic cell differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2005.08.002"}], "href": "https://doi.org/10.1016/j.gene.2005.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16297570"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16297570"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shan Wang, Xiao-Chao Tan, Bin Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening of substrates of protein arginine methyltransferase 1 in glioma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chin Med Sci J (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s1001-9294(12)60014-5"}], "href": "https://doi.org/10.1016/s1001-9294(12"}, {"type": "t", "text": "60014-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22734206"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22734206"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Joanna Rowsell, Renata da Silva Camargo, William B Langdon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Uncovering the expression patterns of chimeric transcripts using surveys of affymetrix GeneChips."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Integr Bioinform (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2390/biecoll-jib-2010-137"}], "href": "https://doi.org/10.2390/biecoll-jib-2010-137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20375459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20375459"}]}]}]}
Synonyms MASK-BP3, MASK-BP3ARF
NCBI Gene ID 404734
API
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Predicted Functions View ANKHD1-EIF4EBP3's ARCHS4 Predicted Functions.
Co-expressed Genes View ANKHD1-EIF4EBP3's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ANKHD1-EIF4EBP3's ARCHS4 Predicted Functions.

Functional Associations

ANKHD1-EIF4EBP3 has 2,783 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 52 datasets.

Click the + buttons to view associations for ANKHD1-EIF4EBP3 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq tissue samples with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of ANKHD1-EIF4EBP3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with ANKHD1-EIF4EBP3 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of ANKHD1-EIF4EBP3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of ANKHD1-EIF4EBP3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of ANKHD1-EIF4EBP3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of ANKHD1-EIF4EBP3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with ANKHD1-EIF4EBP3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DisGeNET Gene-Disease Associations diseases associated with ANKHD1-EIF4EBP3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at ANKHD1-EIF4EBP3 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of ANKHD1-EIF4EBP3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of ANKHD1-EIF4EBP3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing ANKHD1-EIF4EBP3 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of ANKHD1-EIF4EBP3 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of ANKHD1-EIF4EBP3 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of ANKHD1-EIF4EBP3 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of ANKHD1-EIF4EBP3 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with ANKHD1-EIF4EBP3 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of ANKHD1-EIF4EBP3 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of ANKHD1-EIF4EBP3 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by ANKHD1-EIF4EBP3 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for ANKHD1-EIF4EBP3 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of ANKHD1-EIF4EBP3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of ANKHD1-EIF4EBP3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Kinase Library Tyrosine Kinome Atlas kinases that phosphorylate ANKHD1-EIF4EBP3 protein from the Kinase Library Tyrosine Kinome Atlas dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of ANKHD1-EIF4EBP3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles cell lines with high or low expression of ANKHD1-EIF4EBP3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with ANKHD1-EIF4EBP3 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of ANKHD1-EIF4EBP3 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain ANKHD1-EIF4EBP3 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by ANKHD1-EIF4EBP3 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of ANKHD1-EIF4EBP3 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of ANKHD1-EIF4EBP3 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of ANKHD1-EIF4EBP3 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
NURSA Protein Complexes protein complexs containing ANKHD1-EIF4EBP3 protein recovered by IP-MS from the NURSA Protein Complexes dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ANKHD1-EIF4EBP3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
ProteomicsDB Cell Type and Tissue Protein Expression Profiles cell types and tissues with high or low expression of ANKHD1-EIF4EBP3 protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of ANKHD1-EIF4EBP3 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles cell types and tissues with high or low expression of ANKHD1-EIF4EBP3 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at ANKHD1-EIF4EBP3 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ANKHD1-EIF4EBP3 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ANKHD1-EIF4EBP3 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of ANKHD1-EIF4EBP3 gene from the Sci-Plex Drug Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of ANKHD1-EIF4EBP3 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of ANKHD1-EIF4EBP3 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of ANKHD1-EIF4EBP3 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.