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Aliases for DDX31 Gene

Aliases for DDX31 Gene

  • DEAD-Box Helicase 31 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 31 2 3
  • Protein Phosphatase 1, Regulatory Subunit 25 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 31 2 3
  • DEAD Box Protein 31 3 4
  • Helicain 3 4
  • Probable ATP-Dependent RNA Helicase DDX31 3
  • DEAD/DEXH Helicase DDX31 3
  • G2 Helicase 3
  • EC 3.6.4.13 4
  • EC 3.6.1 56
  • PPP1R25 3

External Ids for DDX31 Gene

Previous GeneCards Identifiers for DDX31 Gene

  • GC09M126494
  • GC09M127026
  • GC09M128823
  • GC09M130745
  • GC09M134458
  • GC09M135468
  • GC09M104963

Summaries for DDX31 Gene

Entrez Gene Summary for DDX31 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]

GeneCards Summary for DDX31 Gene

DDX31 (DEAD-Box Helicase 31) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity.

UniProtKB/Swiss-Prot for DDX31 Gene

  • Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224).

Gene Wiki entry for DDX31 Gene

Additional gene information for DDX31 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX31 Gene

Genomics for DDX31 Gene

GeneHancer (GH) Regulatory Elements for DDX31 Gene

Promoters and enhancers for DDX31 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
GH09I132668 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 583.7 +0.1 76 3.1 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B DDX31 PIR44565 GTF3C4 TTF1 GTF3C5 MED27 MED22 TSC1
GH09I132671 Enhancer 0.8 ENCODE 550.8 -1.6 -1638 0.2 CTCF ARNT TEAD4 TAL1 CEBPG ZNF280A FOSL1 ZNF324 TCF12 CTBP1 DDX31 PIR44565 TSC1 TTF1 MED27 GTF3C4 MED22 PIR58790
GH09I133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 49 -360.3 -360306 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
GH09I132240 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 35 +429.0 429031 2.7 HDGF CLOCK SMAD1 GLI4 ZNF2 ZNF121 GLIS2 ZNF202 SP3 YY2 GTF3C4 DDX31 GTF3C5 PRRC2B TSC1 SETX POMT1 TTF1 NTNG2 GC09M132284
GH09I133146 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 -478.1 -478080 3.2 HDGF PKNOX1 CLOCK MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B RALGDS GTF3C5 DDX31 MED22 SETX RPL7A EEF1A1P5 TSC1 GTF3C4 GC09M133093
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDX31 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDX31 gene promoter:

Genomic Locations for DDX31 Gene

Genomic Locations for DDX31 Gene
chr9:132,592,997-132,670,401
(GRCh38/hg38)
Size:
77,405 bases
Orientation:
Minus strand
chr9:135,468,384-135,545,788
(GRCh37/hg19)

Genomic View for DDX31 Gene

Genes around DDX31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX31 Gene

Proteins for DDX31 Gene

  • Protein details for DDX31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8H2-DDX31_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX31
    Protein Accession:
    Q9H8H2
    Secondary Accessions:
    • Q5K6N2
    • Q5K6N3
    • Q5K6N4
    • Q5VZJ4
    • Q5VZJ9
    • Q96E91
    • Q96NY2
    • Q96SX5
    • Q9H5K6

    Protein attributes for DDX31 Gene

    Size:
    851 amino acids
    Molecular mass:
    94087 Da
    Quaternary structure:
    • Interacts with NPM1; this interaction prevents interaction between NPM1 and HDM2.
    SequenceCaution:
    • Sequence=AAQ14889.1; Type=Frameshift; Positions=816, 825; Evidence={ECO:0000305}; Sequence=AAQ14890.1; Type=Frameshift; Positions=816; Evidence={ECO:0000305}; Sequence=BAB14644.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15620.1; Type=Frameshift; Positions=141; Evidence={ECO:0000305}; Sequence=CAH70532.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16565.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DDX31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX31 Gene

Selected DME Specific Peptides for DDX31 Gene

Q9H8H2:
  • CTDVAARG
  • TGSGKTLA
  • AKSFGLR
  • VPTRELA
  • DEADRIL
  • TPGRLVDH
  • EKARLRKG
  • HRIGRTAR
  • LVPTREL
  • TDVAARGLD
  • PTRELALQ
  • YIHRIGR

Post-translational modifications for DDX31 Gene

No Post-translational modifications

Domains & Families for DDX31 Gene

Gene Families for DDX31 Gene

Suggested Antigen Peptide Sequences for DDX31 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H8H2

UniProtKB/Swiss-Prot:

DDX31_HUMAN :
  • Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily.
Family:
  • Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily.
genes like me logo Genes that share domains with DDX31: view

Function for DDX31 Gene

Molecular function for DDX31 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224).

Enzyme Numbers (IUBMB) for DDX31 Gene

Phenotypes From GWAS Catalog for DDX31 Gene

Gene Ontology (GO) - Molecular Function for DDX31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 23019224
genes like me logo Genes that share ontologies with DDX31: view
genes like me logo Genes that share phenotypes with DDX31: view

miRNA for DDX31 Gene

miRTarBase miRNAs that target DDX31

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DDX31 Gene

Localization for DDX31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX31 Gene

Nucleus, nucleolus. Note=Colocalized with NPM1 in the nucleoli. {ECO:0000269 PubMed:23019224}.

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 DDX31 gene
Compartment Confidence
nucleus 5
golgi apparatus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,IDA 23019224
GO:0005737 cytoplasm IBA --
GO:0005794 Golgi apparatus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with DDX31: view

Pathways & Interactions for DDX31 Gene

SuperPathways for DDX31 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010501 RNA secondary structure unwinding IBA --
GO:0042254 ribosome biogenesis IMP 23019224
genes like me logo Genes that share ontologies with DDX31: view

No data available for Pathways by source and SIGNOR curated interactions for DDX31 Gene

Drugs & Compounds for DDX31 Gene

(3) Drugs for DDX31 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 DDX31 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 DDX31: view

Transcripts for DDX31 Gene

Unigene Clusters for DDX31 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 31:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX31 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2: - -
SP3:
SP4:
SP5:

ExUns: 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for DDX31 Gene

GeneLoc Exon Structure for
DDX31
ECgene alternative splicing isoforms for
DDX31

Expression for DDX31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDX31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX31 Gene

This gene is overexpressed in Lung (27.9), Blymphocyte (13.6), and CD8 Tcells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDX31 Gene



Protein tissue co-expression partners for DDX31 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDX31 Gene:

DDX31

SOURCE GeneReport for Unigene cluster for DDX31 Gene:

Hs.660767

mRNA Expression by UniProt/SwissProt for DDX31 Gene:

Q9H8H2-DDX31_HUMAN
Tissue specificity: Weakly or undetectably expressed in normal organs. Up-regulated in renal cell carcinoma.

Evidence on tissue expression from TISSUES for DDX31 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with DDX31: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX31 Gene

Orthologs for DDX31 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX31 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia DDX31 33
  • 85.71 (n)
cow
(Bos Taurus)
Mammalia DDX31 33 34
  • 83.29 (n)
mouse
(Mus musculus)
Mammalia Ddx31 33 16 34
  • 83.28 (n)
rat
(Rattus norvegicus)
Mammalia Ddx31 33
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX31 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX31 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX31 33 34
  • 70.64 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx31 33
  • 64.87 (n)
Str.11929 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15162 33
zebrafish
(Danio rerio)
Actinopterygii ddx31 33 34
  • 61.45 (n)
Dr.7284 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010670 33
  • 50.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8611 33 34
  • 49.75 (n)
BcDNA:GH02833 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP7 33 34 36
  • 46.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13926g 33
  • 46.65 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR082C 33
  • 44.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G40700 33
  • 49.35 (n)
rice
(Oryza sativa)
Liliopsida Os05g0110500 33
  • 49.51 (n)
Os.19569 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dbp7 33
  • 47.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06520 33
  • 46.16 (n)
Species where no ortholog for DDX31 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DDX31 Gene

ENSEMBL:
Gene Tree for DDX31 (if available)
TreeFam:
Gene Tree for DDX31 (if available)

Paralogs for DDX31 Gene

(6) SIMAP similar genes for DDX31 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DDX31: view

No data available for Paralogs for DDX31 Gene

Variants for DDX31 Gene

Sequence variations from dbSNP and Humsavar for DDX31 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000002535 -- 132,606,481(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000065428 -- 132,621,661(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000102549 -- 132,643,381(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000103493 -- 132,615,278(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000135460 -- 132,610,241(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DDX31 Gene

Variant ID Type Subtype PubMed ID
esv2661382 CNV deletion 23128226
esv3621918 CNV loss 21293372

Variation tolerance for DDX31 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX31 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX31 Gene

Disorders for DDX31 Gene

Additional Disease Information for DDX31

No disorders were found for DDX31 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DDX31 Gene

Publications for DDX31 Gene

  1. DDX31 regulates the p53-HDM2 pathway and rRNA gene transcription through its interaction with NPM1 in renal cell carcinomas. (PMID: 23019224) Fukawa T … Katagiri T (Cancer research 2012) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. 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
  5. The human DDX and DHX gene families of putative RNA helicases. (PMID: 12782131) Abdelhaleem M … Wain H (Genomics 2003) 3 4 58

Products for DDX31 Gene

Sources for DDX31 Gene

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