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DHX40 DEAH-box helicase 40 [ Homo sapiens (human) ]

Gene ID: 79665, updated on 3-Apr-2024

Summary

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Official Symbol
DHX40provided by HGNC
Official Full Name
DEAH-box helicase 40provided by HGNC
Primary source
HGNC:HGNC:18018
See related
Ensembl:ENSG00000108406 MIM:607570; AllianceGenome:HGNC:18018
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
PAD; DDX40; ARG147
Summary
This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in testis (RPKM 20.7), thyroid (RPKM 19.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59565610..59608345)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60434369..60477103)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57642971..57685706)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1476 Neighboring gene uncharacterized LOC105371845 Neighboring gene uncharacterized LOC105371847 Neighboring gene RNA, U4 small nuclear 13, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57642652-57643194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8781 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57695690-57696502 Neighboring gene Sharpr-MPRA regulatory region 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8782 Neighboring gene clathrin heavy chain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57760547-57761746 Neighboring gene Sharpr-MPRA regulatory region 12460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57780642-57781146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:57781147-57781650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57784605-57785260 Neighboring gene peptidyl-tRNA hydrolase 2

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. 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
  2. Molecular and functional characterization of the p62 complex, an assembly of nuclear pore complex glycoproteins. Hu T, et al. J Cell Biol, 1996 Aug. PMID 8707840, Free PMC Article
  3. Identification and Characterization of USP7 Targets in Cancer Cells. Georges A, et al. Sci Rep, 2018 Oct 26. PMID 30367141, Free PMC Article
  4. USP7 Regulates Cytokinesis through FBXO38 and KIF20B. Georges A, et al. Sci Rep, 2019 Feb 25. PMID 30804394, Free PMC Article
  5. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. Méant A, et al. Mol Cell Proteomics, 2020 Jan. PMID 31678930, Free PMC Article

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

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

  • FLJ22060, FLJ34015

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
probable ATP-dependent RNA helicase DHX40
Names
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)
DEAH (Asp-Glu-Ala-His) box polypeptide 40
DEAH box protein 40
NP_001159773.1
NP_078888.4
XP_006722146.1
XP_011523555.1
XP_016880569.1
XP_047292714.1
XP_054173201.1
XP_054173202.1
XP_054173203.1
XP_054173204.1

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_001166301.2 → NP_001159773.1  probable ATP-dependent RNA helicase DHX40 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has multiple differences in the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC004167, AF319521, AF461690, AK299151, AL832510
    Consensus CDS
    CCDS54150.1
    UniProtKB/TrEMBL
    B4DR88
    Related
    ENSP00000388749.3, ENST00000425628.7
    Conserved Domains (1) summary
    COG1643
    Location:24 → 673
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  2. NM_024612.5 → NP_078888.4  probable ATP-dependent RNA helicase DHX40 isoform 1

    See identical proteins and their annotated locations for NP_078888.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF319521, BC024187
    Consensus CDS
    CCDS11617.1
    UniProtKB/Swiss-Prot
    B3KTJ5, C9JR60, Q5JPH4, Q8IX18, Q8TC86, Q8WY53, Q9BXM1, Q9H6M9
    UniProtKB/TrEMBL
    B4DR88
    Related
    ENSP00000251241.4, ENST00000251241.9
    Conserved Domains (1) summary
    COG1643
    Location:16 → 770
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    59565610..59608345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722083.4 → XP_006722146.1  probable ATP-dependent RNA helicase DHX40 isoform X1

    UniProtKB/TrEMBL
    B4DR88
    Conserved Domains (5) summary
    smart00490
    Location:312 → 399
    HELICc; helicase superfamily c-terminal domain
    smart00847
    Location:448 → 530
    HA2; Helicase associated domain (HA2) Add an annotation
    COG1643
    Location:16 → 743
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd00046
    Location:78 → 213
    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:564 → 672
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

  2. XM_011525253.4 → XP_011523555.1  probable ATP-dependent RNA helicase DHX40 isoform X3

    Conserved Domains (5) summary
    smart00847
    Location:408 → 496
    HA2; Helicase associated domain (HA2) Add an annotation
    COG1643
    Location:16 → 709
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd00046
    Location:78 → 213
    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:530 → 638
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
    cl21455
    Location:257 → 362
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_017025080.3 → XP_016880569.1  probable ATP-dependent RNA helicase DHX40 isoform X2

    UniProtKB/TrEMBL
    B4DR88
    Conserved Domains (1) summary
    COG1643
    Location:38 → 694
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

  4. XM_047436758.1 → XP_047292714.1  probable ATP-dependent RNA helicase DHX40 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    60434369..60477103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317226.1 → XP_054173201.1  probable ATP-dependent RNA helicase DHX40 isoform X1

  2. XM_054317228.1 → XP_054173203.1  probable ATP-dependent RNA helicase DHX40 isoform X3

  3. XM_054317227.1 → XP_054173202.1  probable ATP-dependent RNA helicase DHX40 isoform X2

  4. XM_054317229.1 → XP_054173204.1  probable ATP-dependent RNA helicase DHX40 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IX18.2 GenPept UniProtKB/Swiss-Prot:Q8IX18

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