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

Gene ID: 79665, updated on 3-May-2020

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
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

Genomic context

See DHX40 in Genome Data Viewer
Location:
17q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (59565563..59608345)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57642886..57685713)

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 Sharpr-MPRA regulatory region 22 Neighboring gene clathrin heavy chain 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

Homology

Clone Names

  • FLJ22060, FLJ34015

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_011523556.1
XP_016880569.1
XP_016880570.1
XP_016880571.1
XP_016880572.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q8IX18
    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
    Q8IX18
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    59565563..59608345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025082.1XP_016880571.1  probable ATP-dependent RNA helicase DHX40 isoform X6

    Conserved Domains (1) summary
    COG1643
    Location:2631
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  2. XM_017025083.1XP_016880572.1  probable ATP-dependent RNA helicase DHX40 isoform X6

    Conserved Domains (1) summary
    COG1643
    Location:2631
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  3. XM_011525253.3XP_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
  4. XM_006722083.3XP_006722146.1  probable ATP-dependent RNA helicase DHX40 isoform X1

    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
  5. XM_011525254.2XP_011523556.1  probable ATP-dependent RNA helicase DHX40 isoform X4

    Conserved Domains (1) summary
    COG1643
    Location:1671
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  6. XM_017025081.1XP_016880570.1  probable ATP-dependent RNA helicase DHX40 isoform X5

  7. XM_017025080.2XP_016880569.1  probable ATP-dependent RNA helicase DHX40 isoform X2

    Conserved Domains (1) summary
    COG1643
    Location:38694
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
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