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 fami... See more...

Aliases for DHX38 Gene

Aliases for DHX38 Gene

  • DEAH-Box Helicase 38 2 3 5
  • Pre-MRNA-Splicing Factor ATP-Dependent RNA Helicase PRP16 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 38 2 3
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 38 2 3
  • ATP-Dependent RNA Helicase DHX38 3 4
  • DEAH Box Protein 38 3 4
  • DDX38 3 4
  • PRP16 3 4
  • PRP16 Homolog Of S.Cerevisiae 3
  • EC 3.6.4.13 4
  • KIAA0224 4
  • EC 3.6.1 52
  • PRPF16 3
  • RP84 3

External Ids for DHX38 Gene

Previous HGNC Symbols for DHX38 Gene

  • DDX38

Previous GeneCards Identifiers for DHX38 Gene

  • GC16P071863
  • GC16P071904
  • GC16P071903
  • GC16P070685
  • GC16P057894

Summaries for DHX38 Gene

Entrez Gene Summary for DHX38 Gene

  • 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]

GeneCards Summary for DHX38 Gene

DHX38 (DEAH-Box Helicase 38) is a Protein Coding gene. Diseases associated with DHX38 include Retinitis Pigmentosa 84 and Retinitis Pigmentosa. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.

UniProtKB/Swiss-Prot Summary for DHX38 Gene

  • Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131).

Gene Wiki entry for DHX38 Gene

Additional gene information for DHX38 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHX38 Gene

Genomics for DHX38 Gene

GeneHancer (GH) Regulatory Elements for DHX38 Gene

Promoters and enhancers for DHX38 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHX38 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHX38

Top Transcription factor binding sites by QIAGEN in the DHX38 gene promoter:
  • AhR
  • Arnt
  • C/EBPbeta
  • CUTL1
  • GATA-1
  • MZF-1
  • NF-1
  • NF-1/L
  • p53
  • STAT3

Genomic Locations for DHX38 Gene

Genomic Locations for DHX38 Gene
chr16:72,093,613-72,112,912
(GRCh38/hg38)
Size:
19,300 bases
Orientation:
Plus strand
chr16:72,127,461-72,146,811
(GRCh37/hg19)
Size:
19,351 bases
Orientation:
Plus strand

Genomic View for DHX38 Gene

Genes around DHX38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX38 Gene

Proteins for DHX38 Gene

  • Protein details for DHX38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92620-PRP16_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16
    Protein Accession:
    Q92620
    Secondary Accessions:
    • B4DVG8
    • D3DWS7
    • O75212
    • Q96HN7

    Protein attributes for DHX38 Gene

    Size:
    1227 amino acids
    Molecular mass:
    140503 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.
    SequenceCaution:
    • Sequence=BAA13213.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DHX38 Gene

    Alternative splice isoforms for DHX38 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHX38 Gene

Selected DME Specific Peptides for DHX38 Gene

Q92620:
  • LPSDLQAKIF
  • TQPRRVAA
  • GRAGRTGPG
  • QRSGRAGRT
  • TDVLFGLL
  • IRFEDCT
  • PEIQRTNL
  • TNIAETS
  • TVPEIQR
  • IKYMTDG
  • TGSGKTTQ

Post-translational modifications for DHX38 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DHX38 Gene

Gene Families for DHX38 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DHX38 Gene

Blocks:
  • ATP-dependent helicase, DEAH-box
  • Helicase-associated region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DHX38 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50987, highly similar to Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (EC 3.6.1.-) (B4DM30_HUMAN)
  • cDNA FLJ50999, highly similar to Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (EC 3.6.1.-) (B4DN69_HUMAN)
  • cDNA FLJ51112, highly similar to Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (EC 3.6.1.-) (B4DVG8_HUMAN)
  • DEAH box protein 38 (PRP16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92620

UniProtKB/Swiss-Prot:

PRP16_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily.
genes like me logo Genes that share domains with DHX38: view

Function for DHX38 Gene

Molecular function for DHX38 Gene

UniProtKB/Swiss-Prot Function:
Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DHX38 Gene

Phenotypes From GWAS Catalog for DHX38 Gene

Gene Ontology (GO) - Molecular Function for DHX38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with DHX38: view
genes like me logo Genes that share phenotypes with DHX38: view

Human Phenotype Ontology for DHX38 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for DHX38

CRISPR Products

miRNA for DHX38 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX38

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DHX38 Gene

Localization for DHX38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHX38 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHX38 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DHX38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9524131
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0016020 membrane HDA 19946888
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with DHX38: view

Pathways & Interactions for DHX38 Gene

genes like me logo Genes that share pathways with DHX38: view

Pathways by source for DHX38 Gene

1 KEGG pathway for DHX38 Gene

Gene Ontology (GO) - Biological Process for DHX38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with DHX38: view

No data available for SIGNOR curated interactions for DHX38 Gene

Drugs & Compounds for DHX38 Gene

(3) Drugs for DHX38 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for DHX38 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with DHX38: view

Transcripts for DHX38 Gene

mRNA/cDNA for DHX38 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX38

Alternative Splicing Database (ASD) splice patterns (SP) for DHX38 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - -
SP2:
SP3: - - - -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - -
SP12: -
SP13: -
SP14:

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b · 29c
SP1: - - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for DHX38 Gene

GeneLoc Exon Structure for
DHX38

Expression for DHX38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHX38 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DHX38 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.8) and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHX38 Gene



Protein tissue co-expression partners for DHX38 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHX38

SOURCE GeneReport for Unigene cluster for DHX38 Gene:

Hs.151218

Evidence on tissue expression from TISSUES for DHX38 Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Spleen(4.3)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with DHX38: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX38 Gene

Orthologs for DHX38 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHX38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHX38 31 30
  • 99.4 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHX38 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHX38 31 30
  • 91.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DHX38 31 30
  • 91.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhx38 30
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Dhx38 17 31 30
  • 89.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DHX38 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHX38 31 30
  • 79.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHX38 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhx38 30
  • 73.36 (n)
zebrafish
(Danio rerio)
Actinopterygii dhx38 31 30
  • 74.33 (n)
OneToOne
zgc63517 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008528 30
  • 68.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0007 31 30
  • 65.75 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mog-1 31 30
  • 59.5 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR224W 30
  • 55.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07733g 30
  • 54.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP16 33 31 30
  • 52.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB3011 30
  • 57.45 (n)
rice
(Oryza sativa)
Liliopsida Os07g0508000 30
  • 59.3 (n)
Os.14760 30
wheat
(Triticum aestivum)
Liliopsida Ta.25749 30
barley
(Hordeum vulgare)
Liliopsida Hv.4635 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02728 30
  • 61.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp16 30
  • 54.97 (n)
Species where no ortholog for DHX38 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DHX38 Gene

ENSEMBL:
Gene Tree for DHX38 (if available)
TreeFam:
Gene Tree for DHX38 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX38: view image

Paralogs for DHX38 Gene

(9) SIMAP similar genes for DHX38 Gene using alignment to 9 proteins:

  • PRP16_HUMAN
  • B4DM30_HUMAN
  • B4DVG8_HUMAN
  • H3BMS7_HUMAN
  • H3BQT9_HUMAN
  • H3BV01_HUMAN
  • J3KRT1_HUMAN
  • J3KSA8_HUMAN
  • J3KTG2_HUMAN
genes like me logo Genes that share paralogs with DHX38: view

Variants for DHX38 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHX38 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
708550 Benign: not provided 72,108,349(+) C/T SYNONYMOUS_VARIANT
708607 Benign: not provided 72,109,507(+) G/C SYNONYMOUS_VARIANT
709613 Likely Benign: not provided 72,103,107(+) A/T MISSENSE_VARIANT
715078 Likely Benign: not provided 72,096,873(+) C/T SYNONYMOUS_VARIANT
720840 Benign: not provided 72,104,092(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHX38 Gene

Structural Variations from Database of Genomic Variants (DGV) for DHX38 Gene

Variant ID Type Subtype PubMed ID
dgv3017n100 CNV gain 25217958
esv2714683 CNV deletion 23290073
esv2758654 CNV gain 17122850
esv3571476 CNV gain 25503493
nsv428329 CNV gain 18775914
nsv7285 OTHER inversion 18451855
nsv833273 CNV loss 17160897

Variation tolerance for DHX38 Gene

Residual Variation Intolerance Score: 0.934% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX38 Gene

Human Gene Mutation Database (HGMD)
DHX38
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX38

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX38 Gene

Disorders for DHX38 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DHX38 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 84
  • rp84
retinitis pigmentosa
  • retinitis pigmentosa 1
bietti crystalline corneoretinal dystrophy
  • bcd
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
Search DHX38 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRP16_HUMAN
  • Retinitis pigmentosa 84 (RP84) [MIM:618220]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue. {ECO:0000269 PubMed:24737827, ECO:0000269 PubMed:30208423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHX38

genes like me logo Genes that share disorders with DHX38: view

No data available for Genatlas for DHX38 Gene

Publications for DHX38 Gene

  1. Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing. (PMID: 9524131) Zhou Z … Reed R (The EMBO journal 1998) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 54
  3. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. (PMID: 30208423) Latif Z … University of Washington Center for Mendelian Genomics (UWCMG) Study Group (Investigative ophthalmology & visual science 2018) 3 4 54
  4. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. (PMID: 24737827) Ajmal M … Cremers FP (Journal of medical genetics 2014) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for DHX38 Gene

Sources for DHX38 Gene