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    PEDS1-UBE2V1 PEDS1-UBE2V1 readthrough [ Homo sapiens (human) ]

    Gene ID: 387522, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PEDS1-UBE2V1provided by HGNC
    Official Full Name
    PEDS1-UBE2V1 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33521
    See related
    Ensembl:ENSG00000124208 AllianceGenome:HGNC:33521
    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
    CROC1B; CROC-1B; KUA-UEV; TMEM189-UBE2V1
    Summary
    The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in brain (RPKM 35.8), placenta (RPKM 35.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PEDS1-UBE2V1 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (50081124..50153723, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51850763..51923515, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48697661..48770260, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:48660109-48661056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48666284-48667078 Neighboring gene translation regulatory long non-coding RNA 1 Neighboring gene uncharacterized LOC105372655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48671143-48671728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18082 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:48681498-48681675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48689593-48690102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48690103-48690612 Neighboring gene ubiquitin conjugating enzyme E2 V1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:48715799-48716462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:48730039-48730606 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:48732458-48732614 Neighboring gene plasmanylethanolamine desaturase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48754882-48755569 Neighboring gene putative uncharacterized protein CCDC28A-AS1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48760275-48760910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13014 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:48782079-48783278 Neighboring gene long intergenic non-protein coding RNA 1275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:48788805-48789306 Neighboring gene long intergenic non-protein coding RNA 1273

    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. CROC-1 encodes a protein which mediates transcriptional activation of the human FOS promoter. Rothofsky ML, et al. Gene, 1997 Aug 22. PMID 9305758
    2. Up-regulation of CIR1/CROC1 expression upon cell immortalization and in tumor-derived human cell lines. Ma L, et al. Oncogene, 1998 Sep 10. PMID 9771976
    3. Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells. Sancho E, et al. Mol Cell Biol, 1998 Jan. PMID 9418904, Free PMC Article
    4. The products of the yeast MMS2 and two human homologs (hMMS2 and CROC-1) define a structurally and functionally conserved Ubc-like protein family. Xiao W, et al. Nucleic Acids Res, 1998 Sep 1. PMID 9705497, Free PMC Article
    5. Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair. Hofmann RM, et al. Cell, 1999 Mar 5. PMID 10089880

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    Submit: New GeneRIF Correction

    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)

    Pathways from PubChem

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    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
    TMEM189-UBE2V1 fusion protein
    Names
    TMEM189-UBE2V1 readthrough transcript
    transmembrane protein 189-ubiquitin-conjugating enzyme E2 variant 1 read-through

    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_199203.3 → NP_954673.2  TMEM189-UBE2V1 fusion protein

      Status: REVIEWED

      Source sequence(s)
      AL034423
      UniProtKB/TrEMBL
      I3L0A0
      Related
      ENSP00000344166.2, ENST00000341698.2
      Conserved Domains (2) summary
      smart00212
      Location:239 → 365
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
      pfam10520
      Location:85 → 251
      TMEM189_B_dmain; B domain of TMEM189, localization domain

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      50081124..50153723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      51850763..51923515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003349.4: Suppressed sequence

      Description
      NM_003349.4: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version

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