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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
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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

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. 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

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