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    TBC1D3P1-DHX40P1 TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene [ Homo sapiens (human) ]

    Gene ID: 653645, updated on 17-Sep-2024

    Summary

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    Official Symbol
    TBC1D3P1-DHX40P1provided by HGNC
    Official Full Name
    TBC1D3P1-DHX40P1 readthrough, transcribed pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:42362
    See related
    Ensembl:ENSG00000267104
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DHX40P; DHX40P1; TBC1D3P1
    Summary
    This locus represents naturally-occurring readthrough transcription that extends through two unprocessed pseudogenes, TBC1D3P1 (TBC1 domain family member 3 pseudogene 1) and DHX40P1 (DEAH-box helicase 40 pseudogene 1), to protein-coding RNFT1 (ring finger protein, transmembrane 1). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript likely does not encode a functional protein, since translation of the long open reading frames would render the transcript a candidate for nonsense-mediated decay (NMD). [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in testis (RPKM 23.8), thyroid (RPKM 6.2) and 24 other tissues See more
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    Genomic context

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    See TBC1D3P1-DHX40P1 in Genome Data Viewer
    Location:
    17q23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59962363..60019052, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60831099..60887781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58039724..58096413, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tubulin delta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8784 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 Neighboring gene ribosomal protein S6 kinase B1 Neighboring gene ribosomal protein S29 pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8785 Neighboring gene ring finger protein, transmembrane 1 Neighboring gene RNFT1 divergent transcript Neighboring gene DEAH-box helicase 40 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58087919-58088418 Neighboring gene uncharacterized LOC105371848 Neighboring gene TBC1 domain family member 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12522 Neighboring gene Sharpr-MPRA regulatory region 13687 Neighboring gene microRNA 4737 Neighboring gene HEAT repeat containing 6

    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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • TBC1 domain family, member 3 pseudogene 1
    • TBC1D3-DHX40 pseudogene
    • TBC1D3P1-DHX40P1 readthrough (non-protein coding)

    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.

    RNA

    1. NR_002924.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005702, BC029885, DB024853
      Related
      ENST00000587125.1

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      59962363..60019052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      60831099..60887781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005461.4: Suppressed sequence

      Description
      NG_005461.4: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed. [smh]
    Nucleotide Protein
    Heading Accession and Version

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