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    DDX60L DExD/H-box 60 like [ Homo sapiens (human) ]

    Gene ID: 91351, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DDX60Lprovided by HGNC
    Official Full Name
    DExD/H-box 60 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26429
    See related
    Ensembl:ENSG00000181381 MIM:616725; AllianceGenome:HGNC:26429
    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
    Summary
    This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in appendix (RPKM 7.8), bone marrow (RPKM 6.5) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    4q32.3
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (168356735..168480492, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (171715723..171840118, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (169277886..169401643, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene annexin A10 Neighboring gene uncharacterized LOC105377524 Neighboring gene DExD/H-box helicase 60 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22124 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76106 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76110 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76113 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76114 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22125 Neighboring gene uncharacterized LOC107986198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:169408038-169409237 Neighboring gene uncharacterized LOC124900807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76192 Neighboring gene palladin, cytoskeletal associated protein Neighboring gene basic transcription factor 3 like 4 pseudogene 4

    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. Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma. Wu H, et al. BMC Genomics, 2021 Nov 18. PMID 34789165, Free PMC Article
    2. DDX60L Is an Interferon-Stimulated Gene Product Restricting Hepatitis C Virus Replication in Cell Culture. Grünvogel O, et al. J Virol, 2015 Oct. PMID 26269178, Free PMC Article
    3. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Chalasani N, et al. Gastroenterology, 2010 Nov. PMID 20708005, Free PMC Article
    4. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337
    5. Interactome and Proteome Dynamics Uncover Immune Modulatory Associations of the Pathogen Sensing Factor cGAS. Lum KK, et al. Cell Syst, 2018 Dec 26. PMID 30471916, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma.
      Title: Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma.
    2. DDX60L is an interferon-gamma stimulated gene product restricting Hepatitis C virus replication in cell culture.
      Title: DDX60L Is an Interferon-Stimulated Gene Product Restricting Hepatitis C Virus Replication in Cell Culture.
    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
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13468, FLJ31033, FLJ39050, DKFZp781D1175

    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 RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DDX60-like
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like
    DEAD box protein 60-like
    DEAD-box helicase 60 like
    putative ATP-dependent RNA helicase DDX60
    NP_001012985.2
    NP_001278439.1
    NP_001332856.1
    NP_001364998.1
    NP_001364999.1
    NP_001365000.1
    NP_001365001.1
    XP_005263398.2
    XP_005263400.2
    XP_006714471.1
    XP_011530704.1
    XP_011530705.1
    XP_011530707.1
    XP_011530708.1
    XP_011530711.1
    XP_016864318.1
    XP_016864319.1
    XP_047272351.1
    XP_047272352.1
    XP_047272353.1
    XP_047272355.1
    XP_047272356.1
    XP_047272357.1
    XP_047272358.1
    XP_047272359.1
    XP_047272360.1
    XP_054207198.1
    XP_054207199.1
    XP_054207200.1
    XP_054207201.1
    XP_054207202.1
    XP_054207203.1
    XP_054207204.1
    XP_054207205.1
    XP_054207206.1
    XP_054207207.1
    XP_054207208.1
    XP_054207209.1
    XP_054207210.1
    XP_054207211.1
    XP_054207212.1
    XP_054207213.1
    XP_054207214.1
    XP_054207215.1

    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.

    Genomic

    1. NG_051576.1 RefSeqGene

      Range
      5023..128780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012967.3 → NP_001012985.2  probable ATP-dependent RNA helicase DDX60-like isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC079926, AC093888, AK055595, AL832950, CR933601, DA553350, EB710202
      Consensus CDS
      CCDS47161.1
      UniProtKB/Swiss-Prot
      A0A804HKC9, Q5H9U9, Q96ND6
      UniProtKB/TrEMBL
      A0A0K1H1B1
      Related
      ENSP00000507872.1, ENST00000682922.1
      Conserved Domains (2) summary
      smart00490
      Location:1238 → 1314
      HELICc; helicase superfamily c-terminal domain
      pfam00270
      Location:748 → 902
      DEAD; DEAD/DEAH box helicase

    2. NM_001291510.2 → NP_001278439.1  probable ATP-dependent RNA helicase DDX60-like isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC079926, AC093888, AK092461, CR933601, DA553350
      UniProtKB/Swiss-Prot
      Q5H9U9
      Related
      ENSP00000422202.1, ENST00000505890.5
      Conserved Domains (2) summary
      smart00490
      Location:1239 → 1308
      HELICc; helicase superfamily c-terminal domain
      pfam00270
      Location:748 → 902
      DEAD; DEAD/DEAH box helicase

    3. NM_001345927.2 → NP_001332856.1  probable ATP-dependent RNA helicase DDX60-like isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079926, AC093888, KF457833
      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    4. NM_001378069.1 → NP_001364998.1  probable ATP-dependent RNA helicase DDX60-like isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC079926
      UniProtKB/TrEMBL
      D6RB62

    5. NM_001378070.1 → NP_001364999.1  probable ATP-dependent RNA helicase DDX60-like isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC079926
      UniProtKB/TrEMBL
      D6RB62
      Related
      ENSP00000424396.1, ENST00000514748.5

    6. NM_001378071.1 → NP_001365000.1  probable ATP-dependent RNA helicase DDX60-like isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC079926
      UniProtKB/TrEMBL
      D6RB62

    7. NM_001378072.1 → NP_001365001.1  probable ATP-dependent RNA helicase DDX60-like isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079926, AC093888, KF457833
      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      168356735..168480492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416399.1 → XP_047272355.1  probable ATP-dependent RNA helicase DDX60-like isoform X2

      UniProtKB/Swiss-Prot
      A0A804HKC9, Q5H9U9, Q96ND6

    2. XM_005263341.5 → XP_005263398.2  probable ATP-dependent RNA helicase DDX60-like isoform X1

      See identical proteins and their annotated locations for XP_005263398.2

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    3. XM_011532403.3 → XP_011530705.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

      See identical proteins and their annotated locations for XP_011530705.1

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    4. XM_047416395.1 → XP_047272351.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    5. XM_011532405.2 → XP_011530707.1  probable ATP-dependent RNA helicase DDX60-like isoform X4

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      smart00490
      Location:1206 → 1282
      HELICc; helicase superfamily c-terminal domain
      cl21455
      Location:748 → 812
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_047416401.1 → XP_047272357.1  probable ATP-dependent RNA helicase DDX60-like isoform X8

    7. XM_047416400.1 → XP_047272356.1  probable ATP-dependent RNA helicase DDX60-like isoform X7

    8. XM_017008830.2 → XP_016864319.1  probable ATP-dependent RNA helicase DDX60-like isoform X6

      UniProtKB/TrEMBL
      A0A0K1H1B1

    9. XM_011532406.2 → XP_011530708.1  probable ATP-dependent RNA helicase DDX60-like isoform X5

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      smart00490
      Location:1239 → 1315
      HELICc; helicase superfamily c-terminal domain
      pfam00270
      Location:748 → 902
      DEAD; DEAD/DEAH box helicase

    10. XM_006714408.3 → XP_006714471.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

      See identical proteins and their annotated locations for XP_006714471.1

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    11. XM_011532402.3 → XP_011530704.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

      See identical proteins and their annotated locations for XP_011530704.1

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    12. XM_047416397.1 → XP_047272353.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    13. XM_047416396.1 → XP_047272352.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    14. XM_017008829.2 → XP_016864318.1  probable ATP-dependent RNA helicase DDX60-like isoform X3

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      smart00490
      Location:1207 → 1283
      HELICc; helicase superfamily c-terminal domain
      cl21455
      Location:748 → 812
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    15. XM_005263343.3 → XP_005263400.2  probable ATP-dependent RNA helicase DDX60-like isoform X1

      See identical proteins and their annotated locations for XP_005263400.2

      UniProtKB/TrEMBL
      A0A0K1H1B1
      Conserved Domains (2) summary
      COG4581
      Location:742 → 1358
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
      cl28899
      Location:743 → 926
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    16. XM_011532409.4 → XP_011530711.1  probable ATP-dependent RNA helicase DDX60-like isoform X10

      See identical proteins and their annotated locations for XP_011530711.1

      Conserved Domains (2) summary
      smart00490
      Location:625 → 701
      HELICc; helicase superfamily c-terminal domain
      pfam00270
      Location:134 → 288
      DEAD; DEAD/DEAH box helicase

    17. XM_047416403.1 → XP_047272359.1  probable ATP-dependent RNA helicase DDX60-like isoform X10

    18. XM_047416402.1 → XP_047272358.1  probable ATP-dependent RNA helicase DDX60-like isoform X9

    19. XM_047416404.1 → XP_047272360.1  probable ATP-dependent RNA helicase DDX60-like isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      171715723..171840118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351230.1 → XP_054207205.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    2. XM_054351231.1 → XP_054207206.1  probable ATP-dependent RNA helicase DDX60-like isoform X2

    3. XM_054351224.1 → XP_054207199.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    4. XM_054351227.1 → XP_054207202.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    5. XM_054351232.1 → XP_054207207.1  probable ATP-dependent RNA helicase DDX60-like isoform X3

    6. XM_054351229.1 → XP_054207204.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    7. XM_054351233.1 → XP_054207208.1  probable ATP-dependent RNA helicase DDX60-like isoform X4

    8. XM_054351236.1 → XP_054207211.1  probable ATP-dependent RNA helicase DDX60-like isoform X7

    9. XM_054351235.1 → XP_054207210.1  probable ATP-dependent RNA helicase DDX60-like isoform X6

    10. XM_054351234.1 → XP_054207209.1  probable ATP-dependent RNA helicase DDX60-like isoform X5

    11. XM_054351223.1 → XP_054207198.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    12. XM_054351225.1 → XP_054207200.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    13. XM_054351228.1 → XP_054207203.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    14. XM_054351226.1 → XP_054207201.1  probable ATP-dependent RNA helicase DDX60-like isoform X1

    15. XM_054351239.1 → XP_054207214.1  probable ATP-dependent RNA helicase DDX60-like isoform X10

    16. XM_054351238.1 → XP_054207213.1  probable ATP-dependent RNA helicase DDX60-like isoform X10

    17. XM_054351237.1 → XP_054207212.1  probable ATP-dependent RNA helicase DDX60-like isoform X9

    18. XM_054351240.1 → XP_054207215.1  probable ATP-dependent RNA helicase DDX60-like isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9U9.3 GenPept UniProtKB/Swiss-Prot:Q5H9U9

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