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    DHX35 DEAH-box helicase 35 [ Homo sapiens (human) ]

    Gene ID: 60625, updated on 7-Apr-2024

    Summary

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    Official Symbol
    DHX35provided by HGNC
    Official Full Name
    DEAH-box helicase 35provided by HGNC
    Primary source
    HGNC:HGNC:15861
    See related
    Ensembl:ENSG00000101452 AllianceGenome:HGNC:15861
    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
    DDX35; C20orf15; KAIA0875
    Summary
    DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in testis (RPKM 6.1), endometrium (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.23-q12
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38962344..39039721)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40692393..40769759)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37590987..37668364)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 16B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17874 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37515241-37515741 Neighboring gene MPRA-validated peak4213 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37521809-37522767 Neighboring gene RNA, 7SL, cytoplasmic 116, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37536633-37537132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37548997-37549868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17877 Neighboring gene family with sequence similarity 83 member D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17878 Neighboring gene nucleophosmin 1 pseudogene 19 Neighboring gene MPRA-validated peak4214 silencer Neighboring gene Sharpr-MPRA regulatory region 15217 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:37736157-37737356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37737834-37738828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37740853-37741354 Neighboring gene uncharacterized LOC107985448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37779519-37780019 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:37819274-37819952 Neighboring gene long intergenic non-protein coding RNA 1734 Neighboring gene VISTA enhancer hs1042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37898023-37898523 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:37910830-37911508 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:37911509-37912185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:37918403-37918981 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:37919138-37919677 Neighboring gene autophagy related 3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DRH1 - a novel blood-based HPV tumour marker. Weiland T, et al. EBioMedicine, 2020 Jun. PMID 32535546, Free PMC Article
    2. Identification of a novel human DDX40gene, a new member of the DEAH-box protein family. Xu J, et al. J Hum Genet, 2002. PMID 12522690
    3. A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer. Gu J, et al. Cancer Prev Res (Phila), 2011 Apr. PMID 21460395, Free PMC Article
    4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. Murea M, et al. Am J Nephrol, 2011. PMID 21546767, Free PMC Article
    5. DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components. Pascarella A, et al. Sci Rep, 2018 May 17. PMID 29773831, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DRH1 - a novel blood-based HPV tumour marker.
      Title: DRH1 - a novel blood-based HPV tumour marker.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. human DDX40gene, a new member of the DEAH-box protein family shares 53% and 43% amino acid identity with human DDX8 and yeast Drh1.DDX40 may play roles in pre-mRNA splicing, ribosome biogenesis and other RNA processing functions
      Title: Identification of a novel human DDX40gene, a new member of the DEAH-box protein family.
    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
    A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.
    EBI GWAS Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22759

    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 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    probable ATP-dependent RNA helicase DHX35
    Names
    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35
    DEAH (Asp-Glu-Ala-His) box polypeptide 35
    DEAH-box protein 35
    NP_001177738.1
    NP_068750.2
    XP_006723911.1
    XP_011527274.1
    XP_011527276.1
    XP_047296310.1
    XP_047296311.1
    XP_047296312.1
    XP_054179769.1
    XP_054179770.1
    XP_054179771.1
    XP_054179772.1
    XP_054179773.1
    XP_054179774.1

    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_001190809.2 → NP_001177738.1  probable ATP-dependent RNA helicase DHX35 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC033453, DA725122
      Consensus CDS
      CCDS54463.1
      UniProtKB/TrEMBL
      Q5THR1
      Related
      ENSP00000362420.3, ENST00000373323.8
      Conserved Domains (5) summary
      smart00490
      Location:270 → 365
      HELICc; helicase superfamily c-terminal domain
      smart00847
      Location:434 → 518
      HA2; Helicase associated domain (HA2) Add an annotation
      COG1643
      Location:21 → 651
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
      cd00046
      Location:59 → 180
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam07717
      Location:553 → 652
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    2. NM_021931.4 → NP_068750.2  probable ATP-dependent RNA helicase DHX35 isoform 1

      See identical proteins and their annotated locations for NP_068750.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC033453, DA725122
      Consensus CDS
      CCDS13310.1
      UniProtKB/Swiss-Prot
      A2RTX3, B4E0J0, F5GXM6, Q5THR0, Q9H4H7, Q9H5Z1, Q9H6T6
      UniProtKB/TrEMBL
      Q5THR1
      Related
      ENSP00000252011.3, ENST00000252011.8
      Conserved Domains (1) summary
      COG1643
      Location:21 → 682
      HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_033905.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site at an internal exon compared to variant 1, resulting in a frame-shift. This variant is represented as non-coding because the use of the 5'-most translational initiation codon (flanked by a strong Kozak signal), as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK296793, BC033453, DA725122
      Related
      ENST00000484417.5

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38962344..39039721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528972.3 → XP_011527274.1  probable ATP-dependent RNA helicase DHX35 isoform X1

      UniProtKB/TrEMBL
      Q5THR1
      Conserved Domains (5) summary
      smart00490
      Location:301 → 396
      HELICc; helicase superfamily c-terminal domain
      smart00487
      Location:53 → 224
      DEXDc; DEAD-like helicases superfamily
      smart00847
      Location:465 → 541
      HA2; Helicase associated domain (HA2) Add an annotation
      cd00046
      Location:73 → 211
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam07717
      Location:558 → 657
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    2. XM_047440354.1 → XP_047296310.1  probable ATP-dependent RNA helicase DHX35 isoform X2

    3. XM_011528974.2 → XP_011527276.1  probable ATP-dependent RNA helicase DHX35 isoform X3

      Conserved Domains (3) summary
      smart00490
      Location:301 → 396
      HELICc; helicase superfamily c-terminal domain
      smart00487
      Location:53 → 224
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:73 → 211
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

    4. XM_047440355.1 → XP_047296311.1  probable ATP-dependent RNA helicase DHX35 isoform X4

    5. XM_047440356.1 → XP_047296312.1  probable ATP-dependent RNA helicase DHX35 isoform X4

    6. XM_006723848.4 → XP_006723911.1  probable ATP-dependent RNA helicase DHX35 isoform X5

      Conserved Domains (2) summary
      smart00847
      Location:71 → 155
      HA2; Helicase associated domain (HA2) Add an annotation
      pfam07717
      Location:190 → 289
      OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

    RNA

    1. XR_007067474.1 RNA Sequence

    2. XR_007067475.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      40692393..40769759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323794.1 → XP_054179769.1  probable ATP-dependent RNA helicase DHX35 isoform X1

    2. XM_054323795.1 → XP_054179770.1  probable ATP-dependent RNA helicase DHX35 isoform X2

    3. XM_054323796.1 → XP_054179771.1  probable ATP-dependent RNA helicase DHX35 isoform X3

    4. XM_054323797.1 → XP_054179772.1  probable ATP-dependent RNA helicase DHX35 isoform X4

    5. XM_054323798.1 → XP_054179773.1  probable ATP-dependent RNA helicase DHX35 isoform X4

    6. XM_054323799.1 → XP_054179774.1  probable ATP-dependent RNA helicase DHX35 isoform X5

    RNA

    1. XR_008485287.1 RNA Sequence

    2. XR_008485288.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5Z1.2 GenPept UniProtKB/Swiss-Prot:Q9H5Z1

    Gene LinkOut

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

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