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    DDX19A DEAD-box helicase 19A [ Homo sapiens (human) ]

    Gene ID: 55308, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DDX19Aprovided by HGNC
    Official Full Name
    DEAD-box helicase 19Aprovided by HGNC
    Primary source
    HGNC:HGNC:25628
    See related
    Ensembl:ENSG00000168872 AllianceGenome:HGNC:25628
    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
    DDX19L; DDX19-DDX19L
    Summary
    Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be involved in poly(A)+ mRNA export from nucleus. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.8), placenta (RPKM 14.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See DDX19A in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (70346903..70373383)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (76157947..76184410)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70380806..70407286)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene alanyl-tRNA synthetase 1 Neighboring gene RNA, 7SL, cytoplasmic 279, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:70317824-70318022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7671 Neighboring gene Sharpr-MPRA regulatory region 7868 Neighboring gene DEAD-box helicase 19B Neighboring gene DDX19A divergent transcript Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:70366483-70367682 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70379806-70380424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70380425-70381042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11055 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70421141-70421825 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11057 Neighboring gene uncharacterized LOC124903707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11059 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70458653-70459478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70461771-70462462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70462463-70463152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70464537-70465228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70467433-70467993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7673 Neighboring gene ribosomal protein S27 pseudogene 26

    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. DDX19A Senses Viral RNA and Mediates NLRP3-Dependent Inflammasome Activation. Li J, et al. J Immunol, 2015 Dec 15. PMID 26538395
    2. Silencing of let-7b-5p inhibits ovarian cancer cell proliferation and stemness characteristics by Asp-Glu-Ala-Asp-box helicase 19A. Huang X, et al. Bioengineered, 2021 Dec. PMID 34612147, Free PMC Article
    3. Differential CFTR-Interactome Proximity Labeling Procedures Identify Enrichment in Multiple SLC Transporters. Chevalier B, et al. Int J Mol Sci, 2022 Aug 11. PMID 36012204, Free PMC Article
    4. Agonist-specific Protein Interactomes of Glucocorticoid and Androgen Receptor as Revealed by Proximity Mapping. Lempiäinen JK, et al. Mol Cell Proteomics, 2017 Aug. PMID 28611094, Free PMC Article
    5. Blocking PPARγ interaction facilitates Nur77 interdiction of fatty acid uptake and suppresses breast cancer progression. Yang PB, et al. Proc Natl Acad Sci U S A, 2020 Nov 3. PMID 33087562, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing of let-7b-5p inhibits ovarian cancer cell proliferation and stemness characteristics by Asp-Glu-Ala-Asp-box helicase 19A.
      Title: Silencing of let-7b-5p inhibits ovarian cancer cell proliferation and stemness characteristics by Asp-Glu-Ala-Asp-box helicase 19A.
    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

    • FLJ11126, DKFZp686C21137

    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 helicase activity IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm 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 DDX19A
    Names
    DDX19-like protein
    DEAD (Asp-Glu-Ala-As) box polypeptide 19A
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A
    DEAD box protein 19A
    RNA helicase
    NP_001307451.1
    NP_001307454.1
    NP_001307455.1
    NP_001307456.1
    NP_060802.1

    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_001320522.2 → NP_001307451.1  ATP-dependent RNA helicase DDX19A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI863086, AK299539, BC005162, DB074731
      Consensus CDS
      CCDS82009.1
      UniProtKB/TrEMBL
      B4DS24, I3L0H8
      Related
      ENSP00000410243.2, ENST00000417604.6
      Conserved Domains (1) summary
      COG0513
      Location:100 → 446
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

    2. NM_001320525.2 → NP_001307454.1  ATP-dependent RNA helicase DDX19A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI863086, BC005162, DB074731, DC375258
      UniProtKB/TrEMBL
      I3L352
      Related
      ENSP00000460180.1, ENST00000575878.1
      Conserved Domains (2) summary
      cd18787
      Location:216 → 352
      SF2_C_DEAD; C-terminal helicase domain of the DEAD box helicases
      cl28899
      Location:9 → 212
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    3. NM_001320526.2 → NP_001307455.1  ATP-dependent RNA helicase DDX19A isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AI863086, BC005162, CR749227
      UniProtKB/TrEMBL
      Q68DY7, Q69YM2
      Conserved Domains (3) summary
      COG0513
      Location:1 → 327
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd00079
      Location:156 → 291
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cl21455
      Location:1 → 145
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001320527.2 → NP_001307456.1  ATP-dependent RNA helicase DDX19A isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI863086, AK310604, BC005162, DB074731
      UniProtKB/TrEMBL
      Q59FQ9
      Conserved Domains (3) summary
      COG0513
      Location:34 → 300
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      cd00079
      Location:129 → 264
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cl21455
      Location:34 → 118
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. NM_018332.5 → NP_060802.1  ATP-dependent RNA helicase DDX19A isoform 1

      See identical proteins and their annotated locations for NP_060802.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI863086, BC005162, DB074731
      Consensus CDS
      CCDS10889.1
      UniProtKB/Swiss-Prot
      B2RPL0, B4DRZ7, Q53FM0, Q9NUU7
      UniProtKB/TrEMBL
      F6QDS0
      Related
      ENSP00000306117.7, ENST00000302243.12
      Conserved Domains (2) summary
      cd18787
      Location:306 → 442
      SF2_C_DEAD; C-terminal helicase domain of the DEAD box helicases
      cl28899
      Location:74 → 302
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    RNA

    1. NR_135296.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI863086, AK310804, BC005162, DB074731
      Related
      ENST00000569771.5

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      70346903..70373383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      76157947..76184410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUU7.1 GenPept UniProtKB/Swiss-Prot:Q9NUU7

    Gene LinkOut

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

    Chemical Information
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