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

Gene ID: 79665, updated on 7-Jan-2024

Summary

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

See DHX40 in Genome Data Viewer
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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001166301.2NP_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:24673
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  2. NM_024612.5NP_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:16770
    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_006722083.4XP_006722146.1  probable ATP-dependent RNA helicase DHX40 isoform X1

    UniProtKB/TrEMBL
    B4DR88
    Conserved Domains (5) summary
    smart00490
    Location:312399
    HELICc; helicase superfamily c-terminal domain
    smart00847
    Location:448530
    HA2; Helicase associated domain (HA2) Add an annotation
    COG1643
    Location:16743
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd00046
    Location:78213
    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:564672
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  2. XM_011525253.4XP_011523555.1  probable ATP-dependent RNA helicase DHX40 isoform X3

    Conserved Domains (5) summary
    smart00847
    Location:408496
    HA2; Helicase associated domain (HA2) Add an annotation
    COG1643
    Location:16709
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    cd00046
    Location:78213
    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:530638
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
    cl21455
    Location:257362
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_017025080.3XP_016880569.1  probable ATP-dependent RNA helicase DHX40 isoform X2

    UniProtKB/TrEMBL
    B4DR88
    Conserved Domains (1) summary
    COG1643
    Location:38694
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  4. XM_047436758.1XP_047292714.1  probable ATP-dependent RNA helicase DHX40 isoform X4

    UniProtKB/TrEMBL
    B4DR88

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_054317226.1XP_054173201.1  probable ATP-dependent RNA helicase DHX40 isoform X1

    UniProtKB/TrEMBL
    B4DR88
  2. XM_054317228.1XP_054173203.1  probable ATP-dependent RNA helicase DHX40 isoform X3

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

    UniProtKB/TrEMBL
    B4DR88
  4. XM_054317229.1XP_054173204.1  probable ATP-dependent RNA helicase DHX40 isoform X4

    UniProtKB/TrEMBL
    B4DR88