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DHX38 DEAH-box helicase 38 [ Homo sapiens (human) ]

Gene ID: 9785, updated on 7-Oct-2018

Summary

Official Symbol
DHX38provided by HGNC
Official Full Name
DEAH-box helicase 38provided by HGNC
Primary source
HGNC:HGNC:17211
See related
Ensembl:ENSG00000140829 MIM:605584; Vega:OTTHUMG00000137596
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
DDX38; PRP16; PRPF16
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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 15.5), bone marrow (RPKM 15.1) and 25 other tissues See more
Orthologs

Genomic context

See DHX38 in Genome Data Viewer
Location:
16q22.2
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (72093665..72112912)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72127615..72146811)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin Neighboring gene haptoglobin-related protein Neighboring gene polyamine modulated factor 1 binding protein 1 Neighboring gene uncharacterized LOC105371341

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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cleavage of Growing Transcript in the Termination Region, organism-specific biosystem (from REACTOME)
    Cleavage of Growing Transcript in the Termination Region, organism-specific biosystemThis section includes the cleavage of both polyadenylated and non-polyadenylated transcripts. In the former case polyadenylation has to precede transcript cleavage, while in the latter case there is ...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
  • RNA Polymerase II Transcription, organism-specific biosystem (from REACTOME)
    RNA Polymerase II Transcription, organism-specific biosystem
    RNA Polymerase II Transcription
  • RNA Polymerase II Transcription Termination, organism-specific biosystem (from REACTOME)
    RNA Polymerase II Transcription Termination, organism-specific biosystemThe detailed annotation of this section will be completed in the next release.
  • Spliceosome, organism-specific biosystem (from KEGG)
    Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Spliceosome, conserved biosystem (from KEGG)
    Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Transport of Mature Transcript to Cytoplasm, organism-specific biosystem (from REACTOME)
    Transport of Mature Transcript to Cytoplasm, organism-specific biosystemTransport of mRNA through the Nuclear Pore Complex (NPC) is a dynamic process involving distinct machinery and receptor subsets. The separation of the two compartments and the regulation of this tran...
  • Transport of Mature mRNA derived from an Intron-Containing Transcript, organism-specific biosystem (from REACTOME)
    Transport of Mature mRNA derived from an Intron-Containing Transcript, organism-specific biosystemTransport of mRNA from the nucleus to the cytoplasm, where it is translated into protein, is highly selective and closely coupled to correct RNA processing. This coupling is achieved by the nuclear p...
  • mRNA 3'-end processing, organism-specific biosystem (from REACTOME)
    mRNA 3'-end processing, organism-specific biosystemThe 3' ends of eukaryotic mRNAs are generated by posttranscriptional processing of an extended primary transcript. For almost all RNAs, 3'-end processing consists of two steps: (i) the mRNA is first ...
  • mRNA Processing, organism-specific biosystem (from WikiPathways)
    mRNA Processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...
  • mRNA Splicing, organism-specific biosystem (from REACTOME)
    mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
  • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
    mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0224

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent 3'-5' RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA export from nucleus TAS
Traceable Author Statement
more info
 
mRNA 3'-end processing TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
Names
ATP-dependent RNA helicase DHX38
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38
DEAH (Asp-Glu-Ala-His) box polypeptide 38
DEAH box protein 38
PRP16 homolog of S.cerevisiae
NP_054722.2
XP_005256326.1
XP_011521786.1
XP_011521787.1
XP_016879402.1

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.

Genomic

  1. NG_034207.1 RefSeqGene

    Range
    5001..24197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014003.3NP_054722.2  pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

    See identical proteins and their annotated locations for NP_054722.2

    Status: REVIEWED

    Source sequence(s)
    AA126451, BC008340, BG719187, BM473438, BU733805
    Consensus CDS
    CCDS10907.1
    UniProtKB/Swiss-Prot
    Q92620
    Related
    ENSP00000268482.3, OTTHUMP00000174930, ENST00000268482.7, OTTHUMT00000269004
    Conserved Domains (2) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    pfam12316
    Location:187268
    Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    72093665..72112912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523485.1XP_011521787.1  pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X1

    See identical proteins and their annotated locations for XP_011521787.1

    UniProtKB/Swiss-Prot
    Q92620
    Conserved Domains (2) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    pfam12316
    Location:187268
    Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal
  2. XM_011523484.2XP_011521786.1  pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X1

    See identical proteins and their annotated locations for XP_011521786.1

    UniProtKB/Swiss-Prot
    Q92620
    Conserved Domains (2) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
    pfam12316
    Location:187268
    Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal
  3. XM_005256269.2XP_005256326.1  pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X2

    See identical proteins and their annotated locations for XP_005256326.1

    Conserved Domains (5) summary
    smart00490
    Location:723826
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:491678
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:895977
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:516652
    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:10281111
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
  4. XM_017023913.2XP_016879402.1  pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform X2

    Conserved Domains (5) summary
    smart00490
    Location:723826
    HELICc; helicase superfamily c-terminal domain
    smart00487
    Location:491678
    DEXDc; DEAD-like helicases superfamily
    smart00847
    Location:895977
    HA2; Helicase associated domain (HA2) Add an annotation
    cd00046
    Location:516652
    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:10281111
    OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

RNA

  1. XR_429741.3 RNA Sequence

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