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

    Gene ID: 55510, updated on 27-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_018665.3NP_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:241622
      PTZ00424; helicase 45; Provisional
      cd00079
      Location:461589
      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:76128
      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:251448
      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_047418981.1XP_047274937.1  probable ATP-dependent RNA helicase DDX43 isoform X1

      UniProtKB/TrEMBL
      B2R988
    2. XM_047418983.1XP_047274939.1  probable ATP-dependent RNA helicase DDX43 isoform X3

      UniProtKB/TrEMBL
      B2R988
    3. XM_047418982.1XP_047274938.1  probable ATP-dependent RNA helicase DDX43 isoform X2

      UniProtKB/TrEMBL
      B2R988
    4. XM_047418984.1XP_047274940.1  probable ATP-dependent RNA helicase DDX43 isoform X4

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

    6. XM_047418986.1XP_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_054355802.1XP_054211777.1  probable ATP-dependent RNA helicase DDX43 isoform X1

      UniProtKB/TrEMBL
      B2R988
    2. XM_054355804.1XP_054211779.1  probable ATP-dependent RNA helicase DDX43 isoform X3

      UniProtKB/TrEMBL
      B2R988
    3. XM_054355803.1XP_054211778.1  probable ATP-dependent RNA helicase DDX43 isoform X2

      UniProtKB/TrEMBL
      B2R988
    4. XM_054355805.1XP_054211780.1  probable ATP-dependent RNA helicase DDX43 isoform X4

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

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