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    ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough [ Homo sapiens (human) ]

    Gene ID: 404734, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKHD1-EIF4EBP3provided by HGNC
    Official Full Name
    ANKHD1-EIF4EBP3 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33530
    See related
    Ensembl:ENSG00000254996 AllianceGenome:HGNC:33530
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MASK-BP3; MASK-BP3ARF
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.9), skin (RPKM 16.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ANKHD1-EIF4EBP3 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140401833..140549576)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (140927267..141075006)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139781418..139929161)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANKHD1 divergent transcript Neighboring gene uncharacterized LOC124901087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139786226-139786726 Neighboring gene RNA, U4 small nuclear 14, pseudogene Neighboring gene ankyrin repeat and KH domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139805430-139805930 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139805931-139806431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139808054-139808563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139812829-139813329 Neighboring gene uncharacterized LOC124901194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139926194-139926902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139926903-139927609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139927610-139928317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16450 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139936291-139937112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23276 Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene steroid receptor RNA activator 1 Neighboring gene microRNA 6831 Neighboring gene amyloid beta precursor protein binding family B member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterisation of a new splice variant of MASK-BP3(ARF) and MASK human genes, and their expression patterns during haematopoietic cell differentiation. Santos Duarte Ada S, et al. Gene, 2005 Dec 19. PMID 16297570
    2. Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. Poulin F, et al. J Biol Chem, 2003 Dec 26. PMID 14557257
    3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
    4. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    5. A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. Bouwmeester T, et al. Nat Cell Biol, 2004 Feb. PMID 14743216

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    ANKHD1-EIF4EBP3 protein
    Names
    MASK-4E-BP3 alternate reading frame

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020690.6 → NP_065741.3  ANKHD1-EIF4EBP3 protein

      See identical proteins and their annotated locations for NP_065741.3

      Status: REVIEWED

      Source sequence(s)
      AC008438, AC011399, AF521883
      Consensus CDS
      CCDS4224.1
      UniProtKB/Swiss-Prot
      Q8IWZ3
      Related
      ENSP00000432016.1, ENST00000532219.5
      Conserved Domains (7) summary
      cd00105
      Location:1697 → 1759
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      cd00204
      Location:367 → 491
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam05672
      Location:780 → 865
      MAP7; MAP7 (E-MAP-115) family
      pfam12796
      Location:276 → 365
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:374 → 425
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:406 → 435
      ANK; ANK repeat [structural motif]
      cl09111
      Location:814 → 852
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140401833..140549576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      140927267..141075006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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