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    DDX43 DEAD-box helicase 43 [ Homo sapiens (human) ]

    Gene ID: 55510, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DDX43provided by HGNC
    Official Full Name
    DEAD-box helicase 43provided by HGNC
    Primary source
    HGNC:HGNC:18677
    See related
    Ensembl:ENSG00000080007 MIM:606286; AllianceGenome:HGNC:18677
    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
    Also known as
    CT13; HAGE
    Summary
    The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 12.4), placenta (RPKM 1.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDX43 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73394828..73417566)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74571532..74594268)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74104551..74127289)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene oocyte expressed protein Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74104168-74104668 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:74108069-74108726 Neighboring gene ribosomal protein S6 pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74113715-74113899 Neighboring gene Sharpr-MPRA regulatory region 12175 Neighboring gene cyclic GMP-AMP synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74171453-74172298 Neighboring gene RNA, U6 small nuclear 975, pseudogene Neighboring gene mitochondrial tRNA translation optimization 1

    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. DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer. Amer NN, et al. PLoS One, 2023. PMID 37200388, Free PMC Article
    2. HAGE, a cancer/testis antigen with potential for melanoma immunotherapy: identification of several MHC class I/II HAGE-derived immunogenic peptides. Mathieu MG, et al. Cancer Immunol Immunother, 2007 Dec. PMID 17487488, Free PMC Article
    3. HAGE, a cancer/testis antigen expressed at the protein level in a variety of cancers. Mathieu MG, et al. Cancer Immun, 2010 Jan 11. PMID 20058853, Free PMC Article
    4. Gene expression of helicase antigen in patients with acute and chronic myeloid leukemia. Chen Q, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011 Oct. PMID 22040965
    5. Aberrant hypomethylation of DDX43 promoter in myelodysplastic syndrome. Chen Q, et al. Br J Haematol, 2012 Jul. PMID 22563673

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of DNMT3A R882H Hot Spot Mutations on DDX43 Promoter Methylation in Acute Myeloid Leukemia.
      Title: Effect of DNMT3A R882H Hot Spot Mutations on DDX43 Promoter Methylation in Acute Myeloid Leukemia.
    2. DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer.
      Title: DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer.
    3. DDX43 prefers single-strand DNA or RNA with length longer than 12nt and much prefers guanosine than the other three nucleotides. Achievement of the full binding affinity of protein to substrate needs the existence of all domains, and they must be connected. The absence of either of them or the disjunction can result in a decreased binding affinity to substrates, approximately reduced 10-fold.
      Title: DDX43 prefers single strand substrate and its full binding activity requires physical connection of all domains.
    4. DDX43 is highly expressed in lung adenocarcinoma, and the expression level is related to the stage and metastasis of lung adenocarcinoma.
      Title: Expression and significance of DDX43 in lung adenocarcinoma.
    5. DDX43 provides critical support to the progression of chronic myeloid leukemia (CML) by enhancing cell survival, colony formation, and inhibiting cell apoptosis, thereby implicating DDX43 as a potential therapeutic target in CML.
      Title: Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression.
    6. results demonstrate that DDX43 is a dual helicase and the KH domain is required for its full unwinding activity.
      Title: The DEAD-box protein DDX43 (HAGE) is a dual RNA-DNA helicase and has a K-homology domain required for full nucleic acid unwinding activity.
    7. HAGE expression is a potential prognostic marker and a predictor of response to anthracycline treatment in triple negative breast cancer.
      Title: HAGE in Triple-Negative Breast Cancer Is a Novel Prognostic, Predictive, and Actionable Biomarker: A Transcriptomic and Protein Expression Analysis.
    8. DDX43 induces RAS protein expression and signaling, mediating a novel mechanism of MEK inhibitor resistance.
      Title: Overexpression of DDX43 mediates MEK inhibitor resistance through RAS Upregulation in uveal melanoma cells.
    9. Suggest that the helicase HAGE has a key role in the resistance of ABCB5+ malignant melanoma stem cells to IFNalpha treatment by promoting SOCS1 expression.
      Title: The helicase HAGE prevents interferon-α-induced PML expression in ABCB5+ malignant melanoma-initiating cells by promoting the expression of SOCS1.
    10. DDX43 gene is activated by promoter hypomethylation and DDX43 hypomethylation may be a favorable prognostic factor in acute myeloid leukemia.
      Title: DDX43 promoter is frequently hypomethylated and may predict a favorable outcome in acute myeloid leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    • DKFZp434H2114

    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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DDX43
    Names
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
    DEAD box protein HAGE
    DEAD-box protein 43
    cancer/testis antigen 13
    helical antigen
    NP_061135.2
    XP_047274937.1
    XP_047274938.1
    XP_047274939.1
    XP_047274940.1
    XP_047274941.1
    XP_047274942.1
    XP_054211777.1
    XP_054211778.1
    XP_054211779.1
    XP_054211780.1
    XP_054211781.1
    XP_054211782.1

    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_018665.3 → NP_061135.2  probable ATP-dependent RNA helicase DDX43

      See identical proteins and their annotated locations for NP_061135.2

      Status: REVIEWED

      Source sequence(s)
      BC066938, BQ020439, BX646425, DA453913
      Consensus CDS
      CCDS4977.1
      UniProtKB/Swiss-Prot
      B4E0C8, Q6NXR1, Q9NXZ2
      UniProtKB/TrEMBL
      B2R988
      Related
      ENSP00000359361.4, ENST00000370336.5
      Conserved Domains (4) summary
      PTZ00424
      Location:241 → 622
      PTZ00424; helicase 45; Provisional
      cd00079
      Location:461 → 589
      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 ...
      cd00105
      Location:76 → 128
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      cd00268
      Location:251 → 448
      DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      73394828..73417566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418981.1 → XP_047274937.1  probable ATP-dependent RNA helicase DDX43 isoform X1

      UniProtKB/TrEMBL
      B2R988

    2. XM_047418983.1 → XP_047274939.1  probable ATP-dependent RNA helicase DDX43 isoform X3

      UniProtKB/TrEMBL
      B2R988

    3. XM_047418982.1 → XP_047274938.1  probable ATP-dependent RNA helicase DDX43 isoform X2

      UniProtKB/TrEMBL
      B2R988

    4. XM_047418984.1 → XP_047274940.1  probable ATP-dependent RNA helicase DDX43 isoform X4

    5. XM_047418985.1 → XP_047274941.1  probable ATP-dependent RNA helicase DDX43 isoform X4

    6. XM_047418986.1 → XP_047274942.1  probable ATP-dependent RNA helicase DDX43 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      74571532..74594268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355802.1 → XP_054211777.1  probable ATP-dependent RNA helicase DDX43 isoform X1

      UniProtKB/TrEMBL
      B2R988

    2. XM_054355804.1 → XP_054211779.1  probable ATP-dependent RNA helicase DDX43 isoform X3

      UniProtKB/TrEMBL
      B2R988

    3. XM_054355803.1 → XP_054211778.1  probable ATP-dependent RNA helicase DDX43 isoform X2

      UniProtKB/TrEMBL
      B2R988

    4. XM_054355805.1 → XP_054211780.1  probable ATP-dependent RNA helicase DDX43 isoform X4

    5. XM_054355806.1 → XP_054211781.1  probable ATP-dependent RNA helicase DDX43 isoform X4

    6. XM_054355807.1 → XP_054211782.1  probable ATP-dependent RNA helicase DDX43 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXZ2.2 GenPept UniProtKB/Swiss-Prot:Q9NXZ2

    Gene LinkOut

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

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