DHX9
ATP-dependent RNA helicase A
Also known as: DDX9, DHX9_HUMAN, LKP, RHA
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q08211
- Gene
- DHX9
- Ensembl
- ENSG00000135829
- Chromosome
- 1
- Canonical length
- 1270 aa
- Protein class
- Cancer-related genes, Enzymes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1270 residues, UniProt reviewed canonical sequence.
>Q08211|DHX9
1 MGDVKNFLYA WCGKRKMTPS YEIRAVGNKN RQKFMCEVQV EGYNYTGMGN STNKKDAQSN
61 AARDFVNYLV RINEIKSEEV PAFGVASPPP LTDTPDTTAN AEGDLPTTMG GPLPPHLALK
121 AENNSEVGAS GYGVPGPTWD RGANLKDYYS RKEEQEVQAT LESEEVDLNA GLHGNWTLEN
181 AKARLNQYFQ KEKIQGEYKY TQVGPDHNRS FIAEMTIYIK QLGRRIFARE HGSNKKLAAQ
241 SCALSLVRQL YHLGVVEAYS GLTKKKEGET VEPYKVNLSQ DLEHQLQNII QELNLEILPP
301 PEDPSVPVAL NIGKLAQFEP SQRQNQVGVV PWSPPQSNWN PWTSSNIDEG PLAFATPEQI
361 SMDLKNELMY QLEQDHDLQA ILQERELLPV KKFESEILEA ISQNSVVIIR GATGCGKTTQ
421 VPQFILDDFI QNDRAAECNI VVTQPRRISA VSVAERVAFE RGEEPGKSCG YSVRFESILP
481 RPHASIMFCT VGVLLRKLEA GIRGISHVIV DEIHERDINT DFLLVVLRDV VQAYPEVRIV
541 LMSATIDTSM FCEYFFNCPI IEVYGRTYPV QEYFLEDCIQ MTHFVPPPKD KKKKDKDDDG
601 GEDDDANCNL ICGDEYGPET RLSMSQLNEK ETPFELIEAL LKYIETLNVP GAVLVFLPGW
661 NLIYTMQKHL EMNPHFGSHR YQILPLHSQI PREEQRKVFD PVPVGVTKVI LSTNIAETSI
721 TINDVVYVID SCKQKVKLFT AHNNMTNYAT VWASKTNLEQ RKGRAGRVRP GFCFHLCSRA
781 RFERLETHMT PEMFRTPLHE IALSIKLLRL GGIGQFLAKA IEPPPLDAVI EAEHTLRELD
841 ALDANDELTP LGRILAKLPI EPRFGKMMIM GCIFYVGDAI CTIAAATCFP EPFINEGKRL
901 GYIHRNFAGN RFSDHVALLS VFQAWDDARM GGEEAEIRFC EHKRLNMATL RMTWEAKVQL
961 KEILINSGFP EDCLLTQVFT NTGPDNNLDV VISLLAFGVY PNVCYHKEKR KILTTEGRNA
1021 LIHKSSVNCP FSSQDMKYPS PFFVFGEKIR TRAISAKGMT LVTPLQLLLF ASKKVQSDGQ
1081 IVLVDDWIKL QISHEAAACI TGLRAAMEAL VVEVTKQPAI ISQLDPVNER MLNMIRQISR
1141 PSAAGINLMI GSTRYGDGPR PPKMARYDNG SGYRRGGSSY SGGGYGGGYS SGGYGSGGYG
1201 GSANSFRAGY GAGVGGGYRG VSRGGFRGNS GGDYRGPSGG YRGSGGFQRG GGRGAYGTGY
1261 FGQGRGGGGYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DHX9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 124 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 124 nTPM
- thymus: 83 nTPM
- tonsil: 66 nTPM
- parathyroid gland: 64 nTPM
- retina: 62 nTPM
- lymph node: 53 nTPM
Single-cell type
- erythrocyte progenitors: 283 nCPM
- endometrial glandular cells: 262 nCPM
- endometrial luminal cells: 252 nCPM
- neutrophil progenitors: 181 nCPM
- endometrial ciliated cells: 181 nCPM
- monocyte progenitors: 175 nCPM
Immune cell
- myeloid DC: 30 nTPM
- MAIT T-cell: 26 nTPM
- naive CD8 T-cell: 24 nTPM
- gdT-cell: 23 nTPM
- intermediate monocyte: 23 nTPM
- naive CD4 T-cell: 22 nTPM
Brain region
- white matter: 66 nTPM
- cerebellum: 53 nTPM
- choroid plexus: 50 nTPM
- spinal cord: 49 nTPM
- medulla oblongata: 48 nTPM
- hypothalamus: 48 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DHX9.
Disease | AllUniProt
Conditions DHX9 is implicated in, by any mechanism.
- Intellectual developmental disorder, autosomal dominant 75 (MRD75) MIM:620988
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 197 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inborn genetic diseases
- Intellectual developmental disorder, autosomal dominant 75
- DHX9-related disorder
- DHX9-related neurodevelopmental disorder
- Charcot-Marie-Tooth disease
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 5.84
- DepMap mean gene effect
- -1.2
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alternative mRNA splicing, via spliceosome
- cellular response to exogenous dsRNA
- chromatin organization
- CRD-mediated mRNA stabilization
- DNA replication
- DNA-templated transcription termination
- innate immune response
- miRNA-mediated post-transcriptional gene silencing
- mRNA transport
- negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
- osteoblast differentiation
- positive regulation of cytoplasmic translation
- positive regulation of DNA repair
- positive regulation of DNA replication
- positive regulation of fibroblast proliferation
- positive regulation of inflammatory response
- positive regulation of innate immune response
- positive regulation of interferon-alpha production
- positive regulation of interferon-beta production
- positive regulation of interleukin-18 production
- positive regulation of interleukin-6 production
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of response to cytokine stimulus
- positive regulation of RNA export from nucleus
- positive regulation of transcription by RNA polymerase II
- positive regulation of tumor necrosis factor production
- positive regulation of viral transcription
- protein localization to cytoplasmic stress granule
- protein-containing complex assembly
- pyroptotic inflammatory response
- regulation of cytoplasmic translation
- regulation of defense response to virus by host
- regulation of mRNA processing
- regulation of transcription by RNA polymerase II
- rhythmic process
- RISC complex assembly
- DNA-templated viral transcription
Molecular functions
- 3'-5' DNA helicase activity
- 3'-5' RNA helicase activity
- ATP binding
- ATP hydrolysis activity
- catalytic activity, acting on a nucleic acid
- chromatin DNA binding
- DNA binding
- DNA helicase activity
- DNA replication origin binding
- double-stranded DNA binding
- double-stranded RNA binding
- importin-alpha family protein binding
- metal ion binding
- mRNA binding
- nucleoside triphosphate diphosphatase activity
- promoter-specific chromatin binding
- ribonucleoside triphosphate phosphatase activity
- ribosome binding
- RISC complex binding
- RNA binding
- RNA helicase activity
- RNA polymerase binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II complex binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- RNA stem-loop binding
- sequence-specific mRNA binding
- single-stranded 3'-5' DNA helicase activity
- single-stranded DNA binding
- single-stranded RNA binding
- siRNA binding
- transcription coactivator activity
- transcription coregulator activity
- triplex DNA binding
- 3'-5' DNA/RNA helicase activity
- regulatory region RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Helicase, C-terminal domain-like
- DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
- Helicase-associated domain
- DEAD/DEAH-box helicase domain
- DEAD-box helicase, OB fold
- Helicase superfamily 1/2, ATP-binding domain
- Double-stranded RNA-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- Helicase associated domain (HA2), winged-helix domain
- Double-stranded RNA binding motif
- DEAD/DEAH box helicase
- Helicase conserved C-terminal domain
- Helicase associated domain (HA2), winged-helix
- Oligonucleotide/oligosaccharide-binding (OB)-fold
- Helicase associated domain (HA2), ratchet-like
- DHX9, first double-stranded RNA binding domain
- DHX9, second double-stranded RNA binding domain
- DHX9, DEXH-box helicase domain
KeywordsUniProt
- Acetylation
- Activator
- ATP-binding
- Autism spectrum disorder
- Biological rhythms
- Cytoplasm
- Cytoskeleton
- DNA replication
- DNA-binding
- Helicase
- Host-virus interaction
- Hydrolase
- Immunity
- Inflammatory response
- Innate immunity
- Intellectual disability
- Isopeptide bond
- Manganese
- Metal-binding
- Methylation
- mRNA processing
- mRNA splicing
- mRNA transport
- Nucleotide-binding
- Nucleus
- Phosphoprotein
- Repeat
- RNA-binding
- RNA-mediated gene silencing
- Transcription
- Transcription regulation
- Transcription termination
- Translation regulation
- Transport
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of DHX9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DHX9 as an antibody target. Whether an autoantibody or antibody against DHX9 could matter depends on whether native DHX9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DHX9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DHX9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...