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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANKHD1-EIF4EBP3 Gene

protein-coding   GIFtS: 28
GCID: GC05P139767

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)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ANKHD1-EIF4EBP3
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC05P139767:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_H7C0V5

  • ANKHD1-EIF4EBP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    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)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

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


    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANKHD1-EIF4EBP3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ANKHD1-EIF4EBP3

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    OriGene RNAi products in human, mouse, rat for ANKHD1-EIF4EBP3
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                         Customized lentivirus expression plasmids for stable overexpression of ANKHD1-EIF4EBP3 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ANKHD1-EIF4EBP3
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANKHD1-EIF4EBP3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKHD1-EIF4EBP3

    24/365 AceView cDNA sequences (see all 365):

    AW166110 C05170 F00309 AV709174 CB163696 BE218912 BX102957 AU120725 
    BM794211 AL136943 BM709417 AA847761 AI523142 AA947622 CK299454 CA428556 
    BM828329 AI318067 AI830645 CB114977 BE839371 AI675547 NM_020690 AU140367 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANKHD1-EIF4EBP3 expression in normal human tissues (normalized intensities)      ANKHD1-EIF4EBP3 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   

    Genevestigator expression for ANKHD1-EIF4EBP3
        SABiosciences Custom PCR Arrays for ANKHD1-EIF4EBP3
    Primer
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    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ANKHD1-EIF4EBP3 gene from 6/12 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
    90.71(n)1
    93.89(a)1
      18 (19.46 cM)5
    1088571  NM_175375.31  NP_780584.21 
    chicken
    (Gallus gallus)
    Aves ANKHD16
    ankyrin repeat and KH domain-containing protein 1
    84(a)
    1 → many
    13(990192-1095978)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    82(a)
    28(a)
    many → 1
    possible ortholog
    4(77930894-78028396)
    4(101979220-101980806)
    zebrafish
    (Danio rerio)
    Actinopterygii ankhd16
    si:dkey-86e18.26
    si:dkey-86e18.2
    69(a)
    22(a)
    many → 1
    possible ortholog
    21(25801504-25876724)
    20(15566002-15570350)
    fruit fly
    (Drosophila melanogaster)
    Insecta mask6
    CG425346
    --
    26(a)
    11(a)
    many → 1
    possible ortholog
    3R(20056284-20075970)
    3R(23166344-23198296)
    worm
    (Caenorhabditis elegans)
    Secernentea R11A8.76
    nphp-26
    Protein NPHP-2
    25(a)
    15(a)
    many → 1
    possible ortholog
    IV(10374905-10387296)
    V(1895797-1906560)


    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)
    About This Section
    Paralogs for ANKHD1-EIF4EBP3 gene
    TANC22  ANKS32  ANKRD172  ANKRD292  FEM1A2  ANKHD12  FANK12  KIDINS2202  
    RNASEL2  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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/87 SNPs in ANKHD1-EIF4EBP3 are shown (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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for ANKHD1-EIF4EBP3 gene, integrated from 9 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. (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. (2003)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    6. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (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. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 404734 HGNC: 33530 AceView: EIF4EBP3 Ensembl:ENSG00000254996 euGenes: HUgn404734
    ECgene: ANKHD1-EIF4EBP3 H-InvDB: ANKHD1-EIF4EBP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for ANKHD1-EIF4EBP3 gene:
    Search GeneIP for patents involving ANKHD1-EIF4EBP3

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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