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    DUS4L dihydrouridine synthase 4 like [ Homo sapiens (human) ]

    Gene ID: 11062, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DUS4Lprovided by HGNC
    Official Full Name
    dihydrouridine synthase 4 likeprovided by HGNC
    Primary source
    HGNC:HGNC:21517
    See related
    Ensembl:ENSG00000105865 AllianceGenome:HGNC:21517
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DUS4; PP35
    Summary
    Predicted to enable tRNA dihydrouridine synthase activity. Predicted to be involved in tRNA dihydrouridine synthesis. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.2), testis (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DUS4L in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107563971..107578523)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108880017..108894566)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107204416..107218968)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene component of oligomeric golgi complex 5 Neighboring gene ribosomal protein L37a pseudogene 6 Neighboring gene MPRA-validated peak6680 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107148389-107148890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107148891-107149390 Neighboring gene G protein-coupled receptor 22 Neighboring gene DUS4L-BCAP29 readthrough Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107204943-107206142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18539 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:107204244-107204454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26493 Neighboring gene uncharacterized LOC124901856 Neighboring gene Sharpr-MPRA regulatory region 6605 Neighboring gene B cell receptor associated protein 29 Neighboring gene WBP1L pseudogene 2

    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. Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and cells. Tang Y, et al. Oncotarget, 2017 May 9. PMID 28415823, Free PMC Article
    2. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Evangelou E, et al. Ann Rheum Dis, 2011 Feb. PMID 21068099, Free PMC Article
    3. Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport. Reuter TY, et al. Exp Cell Res, 2003 Oct 1. PMID 14499622
    4. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    5. Transcription-wide mapping of dihydrouridine reveals that mRNA dihydrouridylation is required for meiotic chromosome segregation. Finet O, et al. Mol Cell, 2022 Jan 20. PMID 34798057, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we believe that in contrast to traditional gene fusions, DUS4L-BCAP29 cannot be used as a cancer biomarker. Instead, it is a fusion transcript that exists in normal physiology and that its pro-growth effect is not unique to cancer cells.
      Title: Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and cells.
    2. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough DUS4L-BCAP29

    Readthrough gene: DUS4L-BCAP29, Included gene: BCAP29

    Homology

    Clone Names

    • MGC133233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA dihydrouridine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA-dihydrouridine20a synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA-dihydrouridine20b synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA dihydrouridine synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like
    Names
    protein similar to E.coli yhdg and R. capsulatus nifR3
    NP_001257348.1
    NP_853559.1

    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_001270419.2 → NP_001257348.1  tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like

      See identical proteins and their annotated locations for NP_001257348.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA157330, BC111774, BU621752, BX395100, CX787147, DB196544
      Consensus CDS
      CCDS5745.1
      UniProtKB/Swiss-Prot
      B4DLX0, O95620, Q2NKK1
      UniProtKB/TrEMBL
      A4D0R5
      Conserved Domains (1) summary
      cd02801
      Location:28 → 257
      DUS_like_FMN; Dihydrouridine synthase-like (DUS-like) FMN-binding domain. Members of this family catalyze the reduction of the 5,6-double bond of a uridine residue on tRNA. Dihydrouridine modification of tRNA is widely observed in prokaryotes and eukaryotes, and also ...

    2. NM_181581.3 → NP_853559.1  tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like

      See identical proteins and their annotated locations for NP_853559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is protein-coding. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA157330, BU621752, BX357552, DA133130, U62767
      Consensus CDS
      CCDS5745.1
      UniProtKB/Swiss-Prot
      B4DLX0, O95620, Q2NKK1
      UniProtKB/TrEMBL
      A4D0R5
      Related
      ENSP00000265720.3, ENST00000265720.8
      Conserved Domains (1) summary
      cd02801
      Location:28 → 257
      DUS_like_FMN; Dihydrouridine synthase-like (DUS-like) FMN-binding domain. Members of this family catalyze the reduction of the 5,6-double bond of a uridine residue on tRNA. Dihydrouridine modification of tRNA is widely observed in prokaryotes and eukaryotes, and also ...

    RNA

    1. NR_073002.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA157330, AK297195, BU621752, DB196544

    2. NR_073003.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA157330, AL523141, BC111774, BU621752, DA133130

    3. NR_073004.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA157330, AK294095, BU621752

    4. NR_073005.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA157330, AL529385, BC111774, BU621752, DA223301, DB196544

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      107563971..107578523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852930.1 Reference GRCh38.p14 PATCHES

      Range
      409626..424178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      108880017..108894566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95620.2 GenPept UniProtKB/Swiss-Prot:O95620

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