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    DDX51 DEAD-box helicase 51 [ Homo sapiens (human) ]

    Gene ID: 317781, updated on 27-Dec-2024

    Summary

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    Official Symbol
    DDX51provided by HGNC
    Official Full Name
    DEAD-box helicase 51provided by HGNC
    Primary source
    HGNC:HGNC:20082
    See related
    Ensembl:ENSG00000185163 AllianceGenome:HGNC:20082
    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
    Summary
    Enables RNA binding activity. Predicted to be involved in chromatin looping; chromatin remodeling; and rRNA processing. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.1), ovary (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX51 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132136594..132144319, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132186137..132193862, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132621139..132628864, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene E1A binding protein p400 Neighboring gene small nucleolar RNA, H/ACA box 49 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132534021-132534992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132567429-132567930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132569347-132570207 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:132570983-132571159 Neighboring gene EP400 pseudogene 1 Neighboring gene uncharacterized LOC107987169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132611691-132612191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132626950-132627855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132638821-132639321 Neighboring gene nucleolar complex associated 4 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132662977-132663497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5114 Neighboring gene long intergenic non-protein coding RNA 2361

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The DEAD-box RNA helicase 51 controls non-small cell lung cancer proliferation by regulating cell cycle progression via multiple pathways. Wang X, et al. Sci Rep, 2016 May 20. PMID 27198888, Free PMC Article
    2. Inhibition of UBE2D3 expression attenuates radiosensitivity of MCF-7 human breast cancer cells by increasing hTERT expression and activity. Wang W, et al. PLoS One, 2013. PMID 23741361, Free PMC Article
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
    4. Directed proteomic analysis of the human nucleolus. Andersen JS, et al. Curr Biol, 2002 Jan 8. PMID 11790298
    5. GRWD1 regulates ribosomal protein L23 levels via the ubiquitin-proteasome system. Watanabe S, et al. J Cell Sci, 2018 Aug 3. PMID 29991511

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these data suggest that DDX51 aids cell cancer proliferation by regulating multiple signaling pathways
      Title: The DEAD-box RNA helicase 51 controls non-small cell lung cancer proliferation by regulating cell cycle progression via multiple pathways.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC42193, DKFZp686N2081

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent RNA helicase DDX51
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 51
    DEAD box protein 51
    NP_778236.2
    XP_011536558.1
    XP_054188502.1
    XP_054227887.1

    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_175066.4 → NP_778236.2  ATP-dependent RNA helicase DDX51

      See identical proteins and their annotated locations for NP_778236.2

      Status: VALIDATED

      Source sequence(s)
      AC138466, AK097078, BC029279, BC040185, BC063603
      Consensus CDS
      CCDS41865.1
      UniProtKB/Swiss-Prot
      A8MPT9, Q5CZ71, Q8IXK5, Q8N8A6, Q96ED1
      UniProtKB/TrEMBL
      F1T0L5
      Related
      ENSP00000380495.3, ENST00000397333.4
      Conserved Domains (4) summary
      PRK01297
      Location:109 → 609
      PRK01297; ATP-dependent RNA helicase RhlB; Provisional
      pfam00271
      Location:489 → 600
      Helicase_C; Helicase conserved C-terminal domain
      pfam15724
      Location:79 → 159
      TMEM119; TMEM119 family
      cl21455
      Location:205 → 449
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132136594..132144319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538256.2 → XP_011536558.1  ATP-dependent RNA helicase DDX51 isoform X1

      Conserved Domains (3) summary
      smart00487
      Location:213 → 455
      DEXDc; DEAD-like helicases superfamily
      pfam15724
      Location:79 → 159
      TMEM119; TMEM119 family
      cl21455
      Location:205 → 449
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160007.1 Reference GRCh38.p14 PATCHES

      Range
      43623..51348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332527.1 → XP_054188502.1  ATP-dependent RNA helicase DDX51 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132186137..132193862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371912.1 → XP_054227887.1  ATP-dependent RNA helicase DDX51 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8A6.3 GenPept UniProtKB/Swiss-Prot:Q8N8A6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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