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

Gene ID: 9785, updated on 23-Nov-2021

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
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
RP84; 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
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Genomic context

See DHX38 in Genome Data Viewer
Location:
16q22.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (72093665..72112912)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72127746..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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Retinitis pigmentosa 84
MedGen: C4748725 OMIM: 618220 GeneReviews: Not available
Compare labs

Pathways from PubChem

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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
PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
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)

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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.

Genomic

  1. NG_034207.1 RefSeqGene

    Range
    5132..24197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014003.4NP_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
    Consensus CDS
    CCDS10907.1
    UniProtKB/Swiss-Prot
    Q92620
    Related
    ENSP00000268482.3, ENST00000268482.8
    Conserved Domains (1) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 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 (1) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  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 (1) summary
    COG1643
    Location:5151146
    HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
  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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