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ANKHD1-EIF4EBP3 Gene

protein-coding   GIFtS: 28
GCID: GC05P139782

ANKHD1-EIF4EBP3 Readthrough

  Search for ANKHD1-EIF4EBP3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ANKHD1-EIF4EBP3 Readthrough1 2
MASK-BP32
MASK-BP3ARF2
ANKHD1-EIF4EBP3 Protein2
MASK-4E-BP3 Alternate Reading Frame2

External Ids:    HGNC: 335301   Entrez Gene: 4047342   Ensembl: ENSG000002549967   UniProtKB: H7C0V54   

Export aliases for ANKHD1-EIF4EBP3 gene to outside databases

Previous GC identifer: GC05P139767


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is TANC2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ANKHD1-EIF4EBP3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKHD1-EIF4EBP3 promoter sequence
   Search Chromatin IP Primers for ANKHD1-EIF4EBP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKHD1-EIF4EBP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31.3

ANKHD1-EIF4EBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKHD1-EIF4EBP3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P139782:  view genomic region     (about GC identifiers)

Start:
139,781,399 bp from pter      End:
139,929,163 bp from pter
Size:
147,765 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/TrEMBL: H7C0V5 (See protein sequence)
Recommended Name: Protein ANKHD1-EIF4EBP3  
Size: 636 amino acids; 66134 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

Explore proteomics data for ANKHD1-EIF4EBP3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKHD1-EIF4EBP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065741.3  
    ENSEMBL proteins: 
     ENSP00000432016   ENSP00000396882  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: H7C0V5


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005515protein binding ----
         
    ANKHD1-EIF4EBP3 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKHD1-EIF4EBP3
    Interactions:

        Search GeneGlobe Interaction Network for ANKHD1-EIF4EBP3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for ANKHD1-EIF4EBP3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKHD1-EIF4EBP3 gene: 
    NM_020690.5  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532219 ENST00000474060 ENST00000437495
    miRNA
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    hsa-miR-22 hsa-miR-601 hsa-miR-452*
    SwitchGear 3'UTR luciferase reporter plasmidANKHD1-EIF4EBP3 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ANKHD1-EIF4EBP3

    Selected AceView cDNA sequences (see all 365):

    AI827947 AL045501 NM_017978 CF272490 AW104565 BU538428 AI224516 AI283421 
    BQ189300 AI318067 F00309 CA428556 BU858283 AI927173 AA045565 AI401715 
    CB163696 CA392803 BE269478 AK022433 CA394692 BQ433415 BU620758 AU143608 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANKHD1-EIF4EBP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKHD1-EIF4EBP3 Expression
    About this image


    ANKHD1-EIF4EBP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    ANKHD1-EIF4EBP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKHD1-EIF4EBP3 Protein Expression
        Custom PCR Arrays for ANKHD1-EIF4EBP3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKHD1-EIF4EBP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ANKHD1-EIF4EBP3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Maskbp35
    Ankhd11
    multiple ankyrin repeats single KH domain binding protein more5
    ankyrin repeat and KH domain containing 11
    89.9(n)1
    92.57(a)1
      18 (19.46 cM)5
    1088571  NM_175375.31  NP_780584.21 
    chicken
    (Gallus gallus)
    Aves ANKHD11 ankyrin repeat and KH domain containing 1 81.44(n)
    87.11(a)
      416143  NM_001204097.1  NP_001191026.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    82(a)
    1 → many
    4(77930894-78028396)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ankhd11 ankyrin repeat and KH domain containing 1 71.74(n)
    74.36(a)
      779490  NM_001204092.1  NP_001191021.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ankhd11 ankyrin repeat and KH domain containing 1 66.64(n)
    74.95(a)
      563327  NM_001199768.1  NP_001186697.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mask6
    multiple ankyrin repeats single KH domain
    28(a)
    1 → many
    3R(20056284-20075970)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKHD1-EIF4EBP3 gene
    ANKHD11 2  TANC22  ANKRD172  ANKS32  ANKRD292  FEM1A2  FANK12  KIDINS2202  
    FEM1B2  TANC12  ANKS62  FEM1C2  
    2 SIMAP similar genes for ANKHD1-EIF4EBP3 using alignment to 1 protein entry:     H7C0V5_HUMAN:
    DKFZp586G1024    ANKHD1

    ANKHD1-EIF4EBP3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANKHD1-EIF4EBP3 (see all 87)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502628941,2
    C--139919986(+) GGCTTA/CGTTCC 1 -- int10--------
    rs1855562851,2
    C--139920008(+) CATGGA/CGAGTC 1 -- int10--------
    rs1389576751,2
    --139920150(+) TTTTAA/CTATAG 1 -- int10--------
    rs18359581,2
    C,H--139920207(+) AAAATG/ATTTGG 1 -- int15Minor allele frequency- A:0.00NS EA 576
    rs1893034111,2
    --139920226(+) GAGAAG/TCCAAA 1 -- int10--------
    rs744532981,2
    F--139920240(+) CATATC/GAAGGC 1 -- int11Minor allele frequency- G:0.02NA 120
    rs18359591,2
    C,F,O,A,H--139920311(+) TCTACA/GCTTAT 1 -- int141Minor allele frequency- G:0.08NS EA NA WA CSA 3448
    rs1816623981,2
    --139920347(+) TGCCCA/GGGTCC 1 -- int10--------
    rs1858131931,2
    --139920366(+) GGACCA/TCATCA 1 -- int10--------
    rs117469761,2
    C,H--139920965(+) CTTTAG/AGATAC 1 -- int15Minor allele frequency- A:0.00NS EA NA 418

    HapMap Linkage Disequilibrium report for ANKHD1-EIF4EBP3 (139781399 - 139929163 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ANKHD1-EIF4EBP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2418311CNV Deletion18987734
    nsv509090CNV Insertion20534489
    nsv330052CNV Loss16902084

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ANKHD1-EIF4EBP3 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ANKHD1-EIF4EBP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterisation of a new splice variant of MASK-BP3(ARF) and MASK human genes, and their expression patterns during haematopoietic cell differentiation. (PubMed id 16297570)1, 3 Santos Duarte A.d.a. .S....Saad S.T. (Gene 2005)
    2. Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. (PubMed id 14557257)1, 3 Poulin F.... Sonenberg N. (J. Biol. Chem. 2003)
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    6. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. (PubMed id 14743216)1 Bouwmeester T....Superti-Furga G. (Nat. Cell Biol. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 404734 HGNC: 33530 AceView: EIF4EBP3 Ensembl:ENSG00000254996 euGenes: HUgn404734
    ECgene: ANKHD1-EIF4EBP3 H-InvDB: ANKHD1-EIF4EBP3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANKHD1-EIF4EBP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKHD1-EIF4EBP3 gene:
    Search GeneIP for patents involving ANKHD1-EIF4EBP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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