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Aliases for DHX38 Gene

Aliases for DHX38 Gene

  • DEAH-Box Helicase 38 2 3 5
  • 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
  • Pre-MRNA-Splicing Factor ATP-Dependent RNA Helicase PRP16 3
  • PRP16 Homolog Of S.Cerevisiae 3
  • EC 3.6.4.13 4
  • KIAA0224 4
  • EC 3.6.1 56
  • PRPF16 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 and Coloboma Of Macula. Among its related pathways are mRNA Splicing - Major Pathway and RNA Polymerase II Transcription Termination. 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 for DHX38 Gene

  • Probable ATP-binding RNA helicase involved in pre-mRNA splicing.

Gene Wiki entry for DHX38 Gene

Additional gene information for DHX38 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHX38 Gene

Genomics for DHX38 Gene

GeneHancer (GH) Regulatory Elements for DHX38 Gene

Promoters and enhancers for DHX38 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I072092 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 588.1 +0.3 295 3 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B DHX38 TXNL4B ATXN1L IST1 AP1G1 DHODH CMTR2
GH16I073045 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 57.5 +965.4 965428 26.2 CLOCK MLX FEZF1 DMAP1 YBX1 YY1 ZNF213 ZNF143 ZNF548 SP3 ZFHX3 ENSG00000271009 DHX38 C16orf47 ENSG00000259209 TXNL4B GC16P073065 PIR53148
GH16I072923 Enhancer 1.6 FANTOM5 Ensembl ENCODE 36.6 +832.6 832637 5.3 PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 DHX38 ENSG00000259209 ZFHX3 ENSG00000279757 GC16P072853
GH16I072008 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.7 -84.7 -84720 1.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 DHODH ENSG00000247324 DHX38 HYDIN PHLPP2 HPR ZNF19 LINC01572 IST1 CMTR2
GH16I071425 Enhancer 1.3 Ensembl ENCODE 39.4 -667.0 -666950 1.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 GC16P071427 TRM-CAT2-1 LINC02136 ZNF23 ZNF19 ENSG00000247324 DHX38 SF3B3 PHLPP2 ATXN1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DHX38 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHX38 gene promoter:

Genomic Locations for DHX38 Gene

Genomic Locations for DHX38 Gene
chr16:72,093,562-72,112,912
(GRCh38/hg38)
Size:
19,351 bases
Orientation:
Plus strand
chr16:72,127,461-72,146,811
(GRCh37/hg19)

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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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

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 CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Probable ATP-binding RNA helicase involved in pre-mRNA splicing.

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 --
GO:0004004 ATP-dependent RNA helicase activity IBA --
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

Animal Model Products

  • Taconic Biosciences Mouse Models for DHX38

CRISPR Products

miRNA for DHX38 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DHX38

No data available for Human Phenotype Ontology , 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

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:0005737 cytoplasm IBA --
GO:0016020 membrane HDA,IDA 19946888
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:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
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 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DHX38: view

Transcripts for DHX38 Gene

Unigene Clusters for DHX38 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 38:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
DHX38

Expression for DHX38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DHX38 Gene



Protein tissue co-expression partners for DHX38 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DHX38 Gene:

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 33 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia DHX38 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHX38 33 34
  • 91.82 (n)
cow
(Bos Taurus)
Mammalia DHX38 33 34
  • 91.36 (n)
rat
(Rattus norvegicus)
Mammalia Dhx38 33
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Dhx38 33 16 34
  • 89.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DHX38 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves DHX38 33 34
  • 79.96 (n)
lizard
(Anolis carolinensis)
Reptilia DHX38 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhx38 33
  • 73.36 (n)
zebrafish
(Danio rerio)
Actinopterygii dhx38 33 34
  • 74.33 (n)
zgc63517 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008528 33
  • 68.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0007 33 34
  • 65.75 (n)
worm
(Caenorhabditis elegans)
Secernentea mog-1 33 34
  • 59.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR224W 33
  • 55.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07733g 33
  • 54.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP16 33 34 36
  • 52.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB3011 33
  • 57.45 (n)
rice
(Oryza sativa)
Liliopsida Os07g0508000 33
  • 59.3 (n)
Os.14760 33
barley
(Hordeum vulgare)
Liliopsida Hv.4635 33
wheat
(Triticum aestivum)
Liliopsida Ta.25749 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02728 33
  • 61.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp16 33
  • 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)

Paralogs for DHX38 Gene

Paralogs for DHX38 Gene

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

Variants for DHX38 Gene

Sequence variations from dbSNP and Humsavar for DHX38 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs587777554 uncertain-significance, not provided 72,099,766(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000169774 -- 72,107,012(+) T/C intron_variant
rs1000186493 -- 72,091,771(+) GTGTGTGTG/GTGTGTG upstream_transcript_variant
rs1000379312 -- 72,091,909(+) C/T upstream_transcript_variant
rs1000519009 -- 72,092,906(+) G/A upstream_transcript_variant

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

(2) MalaCards diseases for DHX38 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
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

Additional Disease Information for DHX38

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

No data available for UniProtKB/Swiss-Prot and 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 58
  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 58
  3. 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 58
  4. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 3 4 58
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 3 4 58

Products for DHX38 Gene

  • Addgene plasmids for DHX38

Sources for DHX38 Gene

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