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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
  • 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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