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 t... See more...

Aliases for ANKHD1-EIF4EBP3 Gene

Aliases for ANKHD1-EIF4EBP3 Gene

  • ANKHD1-EIF4EBP3 Readthrough 2 3 5 13
  • MASK-4E-BP3 Alternate Reading Frame 3
  • ANKHD1-EIF4EBP3 Protein 3
  • MASK-BP3ARF 3
  • MASK-BP3 3

External Ids for ANKHD1-EIF4EBP3 Gene

Previous GeneCards Identifiers for ANKHD1-EIF4EBP3 Gene

  • GC05P139767
  • GC05P139782
  • GC05P140466
  • GC05P140470
  • GC05P142381
  • GC05P142487
  • GC05P140478
  • GC05P140487
  • GC05P140493
  • GC05P140503
  • GC05P140509
  • GC05P140517
  • GC05P140522
  • GC05P140533

Summaries for ANKHD1-EIF4EBP3 Gene

Entrez Gene Summary for ANKHD1-EIF4EBP3 Gene

  • 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]

GeneCards Summary for ANKHD1-EIF4EBP3 Gene

ANKHD1-EIF4EBP3 (ANKHD1-EIF4EBP3 Readthrough) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ANKHD1.

Additional gene information for ANKHD1-EIF4EBP3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKHD1-EIF4EBP3 Gene

Genomics for ANKHD1-EIF4EBP3 Gene

GeneHancer (GH) Regulatory Elements for ANKHD1-EIF4EBP3 Gene

Promoters and enhancers for ANKHD1-EIF4EBP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140397 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.5 -468 6.9 E2F8 SIN3A SP1 ZBTB40 SREBF1 MLX SMARCE1 RBPJ POLR2A CEBPZ ANKHD1 ANKHD1-EIF4EBP3 ENSG00000249637 HARS2 IK PURA EIF4EBP3 SLC35A4 PCDHB18P WDR55
GH05J140563 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 +163.0 163033 3.3 ZNF785 SIN3A SP1 ZBTB40 SREBF1 SMARCE1 POLR2A USF2 HCFC1 RUNX1 SLC35A4 APBB3 MIR6831 ANKHD1 WDR55 IK EIF4EBP3 HARS2 TMCO6 PSD2
GH05J140568 Enhancer 0.6 ENCODE 10.7 +167.5 167542 2.6 ETV6 RELA HLF IKZF1 PKNOX1 MNT POLR2A SCRT2 RUNX3 HNF4A CD14 SRA1 TMCO6 EIF4EBP3 WDR55 DND1 ENSG00000200051 ANKHD1 ANKHD1-EIF4EBP3 IK
GH05J140566 Enhancer 0.5 ENCODE 10.7 +165.1 165112 0 TEAD4 CBFA2T2 IKZF1 NCOR1 TCF12 TAL1 MTA2 CBFA2T3 piR-59814 ENSG00000200051 ANKHD1 ANKHD1-EIF4EBP3 WDR55 DND1 APBB3 SLC35A4 ENSG00000283155 lnc-APBB3-3
GH05J140486 Promoter 0.3 EPDnew 11.5 +85.1 85097 0.1 ANKHD1 ENSG00000200051 ANKHD1-EIF4EBP3 EIF4EBP3 RF00017-4949 piR-43583-454
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKHD1-EIF4EBP3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ANKHD1-EIF4EBP3 Gene

Genomic Locations for ANKHD1-EIF4EBP3 Gene
chr5:140,401,814-140,549,578
(GRCh38/hg38)
Size:
147,765 bases
Orientation:
Plus strand
chr5:139,781,399-139,929,163
(GRCh37/hg19)
Size:
147,765 bases
Orientation:
Plus strand

Genomic View for ANKHD1-EIF4EBP3 Gene

Genes around ANKHD1-EIF4EBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKHD1-EIF4EBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKHD1-EIF4EBP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKHD1-EIF4EBP3 Gene

Proteins for ANKHD1-EIF4EBP3 Gene

  • Protein details for ANKHD1-EIF4EBP3 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H7C0V5-H7C0V5_HUMAN
    Recommended name:
    ANKHD1-EIF4EBP3 readthrough
    Protein Accession:
    H7C0V5

    Protein attributes for ANKHD1-EIF4EBP3 Gene

    Size:
    636 amino acids
    Molecular mass:
    66134 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANKHD1-EIF4EBP3 Gene

Protein Expression for ANKHD1-EIF4EBP3 Gene

Post-translational modifications for ANKHD1-EIF4EBP3 Gene

No Post-translational modifications

Other Protein References for ANKHD1-EIF4EBP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKHD1-EIF4EBP3 Gene

Domains & Families for ANKHD1-EIF4EBP3 Gene

Gene Families for ANKHD1-EIF4EBP3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKHD1-EIF4EBP3 Gene

ProtoNet:
genes like me logo Genes that share domains with ANKHD1-EIF4EBP3: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKHD1-EIF4EBP3 Gene

Function for ANKHD1-EIF4EBP3 Gene

Phenotypes From GWAS Catalog for ANKHD1-EIF4EBP3 Gene

Gene Ontology (GO) - Molecular Function for ANKHD1-EIF4EBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKHD1-EIF4EBP3: view
genes like me logo Genes that share phenotypes with ANKHD1-EIF4EBP3: view

Animal Models for ANKHD1-EIF4EBP3 Gene

MGI Knock Outs for ANKHD1-EIF4EBP3:
  • Ankhd1 Ankhd1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKHD1-EIF4EBP3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKHD1-EIF4EBP3 Gene

Localization for ANKHD1-EIF4EBP3 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ANKHD1-EIF4EBP3 Gene

Pathways & Interactions for ANKHD1-EIF4EBP3 Gene

PathCards logo

SuperPathways for ANKHD1-EIF4EBP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKHD1-EIF4EBP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKHD1-EIF4EBP3 Gene

Drugs & Compounds for ANKHD1-EIF4EBP3 Gene

No Compound Related Data Available

Transcripts for ANKHD1-EIF4EBP3 Gene

mRNA/cDNA for ANKHD1-EIF4EBP3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(365) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKHD1-EIF4EBP3

Alternative Splicing Database (ASD) splice patterns (SP) for ANKHD1-EIF4EBP3 Gene

No ASD Table

Relevant External Links for ANKHD1-EIF4EBP3 Gene

GeneLoc Exon Structure for
ANKHD1-EIF4EBP3
ECgene alternative splicing isoforms for
ANKHD1-EIF4EBP3

Expression for ANKHD1-EIF4EBP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKHD1-EIF4EBP3 Gene

Protein differential expression in normal tissues from HIPED for ANKHD1-EIF4EBP3 Gene

This gene is overexpressed in Lung (49.6) and Adipocyte (19.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from MOPED for ANKHD1-EIF4EBP3 Gene



Protein tissue co-expression partners for ANKHD1-EIF4EBP3 Gene

genes like me logo Genes that share expression patterns with ANKHD1-EIF4EBP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKHD1-EIF4EBP3 Gene

Orthologs for ANKHD1-EIF4EBP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKHD1-EIF4EBP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EIF4EBP3 33
  • 96 (a)
OneToMany
ANKHD1 32
  • 93.74 (n)
dog
(Canis familiaris)
Mammalia ANKHD1 33 32
  • 94.25 (n)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ankhd1 17 33 32
  • 89.9 (n)
rat
(Rattus norvegicus)
Mammalia Ankhd1 32
  • 89.72 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKHD1 33
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves ANKHD1 33 32
  • 81.44 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ankhd1 32
  • 71.74 (n)
zebrafish
(Danio rerio)
Actinopterygii ankhd1 33 32
  • 66.64 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mask 33
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 67 (a)
OneToMany
Species where no ortholog for ANKHD1-EIF4EBP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKHD1-EIF4EBP3 Gene

ENSEMBL:
Gene Tree for ANKHD1-EIF4EBP3 (if available)
TreeFam:
Gene Tree for ANKHD1-EIF4EBP3 (if available)

Paralogs for ANKHD1-EIF4EBP3 Gene

Paralogs for ANKHD1-EIF4EBP3 Gene

(2) SIMAP similar genes for ANKHD1-EIF4EBP3 Gene using alignment to 1 proteins:

  • H7C0V5_HUMAN
genes like me logo Genes that share paralogs with ANKHD1-EIF4EBP3: view

Variants for ANKHD1-EIF4EBP3 Gene

Sequence variations from dbSNP and Humsavar for ANKHD1-EIF4EBP3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000003066 -- 140,525,065(+) G/A intron_variant
rs1000003539 -- 140,475,096(+) A/C/G intron_variant
rs1000044560 -- 140,426,550(+) G/A intron_variant
rs1000066991 -- 140,500,617(+) C/T intron_variant
rs1000103364 -- 140,472,644(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKHD1-EIF4EBP3 Gene

Variant ID Type Subtype PubMed ID
esv2418311 CNV deletion 18987734
esv3606950 CNV loss 21293372
nsv1109730 CNV deletion 24896259
nsv330052 CNV deletion 16902084
nsv472329 CNV novel sequence insertion 20440878
nsv509090 CNV insertion 20534489

Variation tolerance for ANKHD1-EIF4EBP3 Gene

Residual Variation Intolerance Score: 1.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKHD1-EIF4EBP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKHD1-EIF4EBP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKHD1-EIF4EBP3 Gene

Disorders for ANKHD1-EIF4EBP3 Gene

Additional Disease Information for ANKHD1-EIF4EBP3

No disorders were found for ANKHD1-EIF4EBP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKHD1-EIF4EBP3 Gene

Publications for ANKHD1-EIF4EBP3 Gene

  1. Characterisation of a new splice variant of MASK-BP3(ARF) and MASK human genes, and their expression patterns during haematopoietic cell differentiation. (PMID: 16297570) Santos Duarte Ada S … Saad ST (Gene 2005) 2 3 56
  2. Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. (PMID: 14557257) Poulin F … Sonenberg N (The Journal of biological chemistry 2003) 2 3 56
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  4. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. (PMID: 30209976) Choi J … Busino L (Cell cycle (Georgetown, Tex.) 2018) 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for ANKHD1-EIF4EBP3 Gene

Sources for ANKHD1-EIF4EBP3 Gene