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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
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Genomic context

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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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