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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q25.3
Chromosome location (bp)
182839347 - 182887982
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing 1,2,3,4,5,6,7,8,9,10,11,12. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo-or deoxyribo-nucleotide triphosphates (NTPs) 13. Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes 14,15,16. Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA 17,18. Binds also to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalyzed by topoisomerase TOP2A 19. Plays a role in DNA replication at origins of replication and cell cycle progression 20. Plays a role as a transcriptional coactivator acting as a bridging factor between polymerase II holoenzyme and transcription factors or cofactors, such as BRCA1, CREBBP, RELA and SMN1 21,22,23,24,25,26,27. Binds to the CDKN2A promoter 28. Plays several roles in post-transcriptional regulation of gene expression 29,30. In cooperation with NUP98, promotes pre-mRNA alternative splicing activities of a subset of genes 31,32,33,34. As component of a large PER complex, is involved in the negative regulation of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms (By similarity). Acts also as a nuclear resolvase that is able to bind and neutralize harmful massive secondary double-stranded RNA structures formed by inverted-repeat Alu retrotransposon elements that are inserted and transcribed as parts of genes during the process of gene transposition 35. Involved in the positive regulation of nuclear export of constitutive transport element (CTE)-containing unspliced mRNA 36,37,38. Component of the coding region determinant (CRD)-mediated complex that promotes cytoplasmic MYC mRNA stability 39. Plays a role in mRNA translation 40. Positively regulates translation of selected mRNAs through its binding to post-transcriptional control element (PCE) in the 5'-untranslated region (UTR) 41. Involved with LARP6 in the translation stimulation of type I collagen mRNAs for CO1A1 and CO1A2 through binding of a specific stem-loop structure in their 5'- UTRs 42. Stimulates LIN28A-dependent mRNA translation probably by facilitating ribonucleoprotein remodeling during the process of translation 43. Plays also a role as a small interfering (siRNA)-loading factor involved in the RNA-induced silencing complex (RISC) loading complex (RLC) assembly, and hence functions in the RISC-mediated gene silencing process 44. Binds preferentially to short double-stranded RNA, such as those produced during rotavirus intestinal infection 45. This interaction may mediate NLRP9 inflammasome activation and trigger inflammatory response, including IL18 release and pyroptosis 46. Finally, mediates the attachment of heterogeneous nuclear ribonucleoproteins (hnRNPs) to actin filaments in the nucleus 47....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q08211 [Direct mapping] ATP-dependent RNA helicase A
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000380[alternative mRNA splicing, via spliceosome] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000993[RNA polymerase II complex binding] GO:0001069[regulatory region RNA binding] GO:0001649[osteoblast differentiation] GO:0002376[immune system process] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003688[DNA replication origin binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0003724[RNA helicase activity] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0003729[mRNA binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005726[perichromatin fibrils] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005829[cytosol] GO:0005844[polysome] GO:0005856[cytoskeleton] GO:0006260[DNA replication] GO:0006353[DNA-templated transcription termination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006397[mRNA processing] GO:0006417[regulation of translation] GO:0006954[inflammatory response] GO:0008380[RNA splicing] GO:0010501[RNA secondary structure unwinding] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016442[RISC complex] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0017111[ribonucleoside triphosphate phosphatase activity] GO:0031047[gene silencing by RNA] GO:0031490[chromatin DNA binding] GO:0032508[DNA duplex unwinding] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0032741[positive regulation of interleukin-18 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032991[protein-containing complex] GO:0033679[3'-5' DNA/RNA helicase activity] GO:0034458[3'-5' RNA helicase activity] GO:0035197[siRNA binding] GO:0035613[RNA stem-loop binding] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0039695[DNA-templated viral transcription] GO:0042788[polysomal ribosome] GO:0043138[3'-5' DNA helicase activity] GO:0044806[G-quadruplex DNA unwinding] GO:0045087[innate immune response] GO:0045089[positive regulation of innate immune response] GO:0045142[triplex DNA binding] GO:0045739[positive regulation of DNA repair] GO:0045740[positive regulation of DNA replication] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046833[positive regulation of RNA export from nucleus] GO:0046872[metal ion binding] GO:0047429[nucleoside triphosphate diphosphatase activity] GO:0048146[positive regulation of fibroblast proliferation] GO:0048511[rhythmic process] GO:0050434[positive regulation of viral transcription] GO:0050684[regulation of mRNA processing] GO:0050691[regulation of defense response to virus by host] GO:0050729[positive regulation of inflammatory response] GO:0051028[mRNA transport] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0060760[positive regulation of response to cytokine stimulus] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061676[importin-alpha family protein binding] GO:0065003[protein-containing complex assembly] GO:0070063[RNA polymerase binding] GO:0070269[pyroptosis] GO:0070578[RISC-loading complex] GO:0070922[RISC complex assembly] GO:0070934[CRD-mediated mRNA stabilization] GO:0070937[CRD-mediated mRNA stability complex] GO:0071356[cellular response to tumor necrosis factor] GO:0071360[cellular response to exogenous dsRNA] GO:0097165[nuclear stress granule] GO:0098795[global gene silencing by mRNA cleavage] GO:1900152[negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay] GO:1903608[protein localization to cytoplasmic stress granule] GO:1904973[positive regulation of viral translation] GO:1905172[RISC complex binding] GO:1905538[polysome binding] GO:1905698[positive regulation of polysome binding] GO:1990518[single-stranded 3'-5' DNA helicase activity] GO:1990825[sequence-specific mRNA binding] GO:1990841[promoter-specific chromatin binding] GO:1990904[ribonucleoprotein complex] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2000637[positive regulation of miRNA-mediated gene silencing] GO:2000765[regulation of cytoplasmic translation] GO:2000767[positive regulation of cytoplasmic translation]
The Human Protein Atlas project is funded
