DDX6
Probable ATP-dependent RNA helicase DDX6
Also known as: DDX6_HUMAN, HLR2, RCK, Rck/p54
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P26196
- Gene
- DDX6
- Ensembl
- ENSG00000110367
- Chromosome
- 11
- Canonical length
- 483 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol,Cytoplasmic bodies
OverviewNCBI Gene
This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
483 residues, UniProt reviewed canonical sequence.
>P26196|DDX6
1 MSTARTENPV IMGLSSQNGQ LRGPVKPTGG PGGGGTQTQQ QMNQLKNTNT INNGTQQQAQ
61 SMTTTIKPGD DWKKTLKLPP KDLRIKTSDV TSTKGNEFED YCLKRELLMG IFEMGWEKPS
121 PIQEESIPIA LSGRDILARA KNGTGKSGAY LIPLLERLDL KKDNIQAMVI VPTRELALQV
181 SQICIQVSKH MGGAKVMATT GGTNLRDDIM RLDDTVHVVI ATPGRILDLI KKGVAKVDHV
241 QMIVLDEADK LLSQDFVQIM EDIILTLPKN RQILLYSATF PLSVQKFMNS HLQKPYEINL
301 MEELTLKGVT QYYAYVTERQ KVHCLNTLFS RLQINQSIIF CNSSQRVELL AKKISQLGYS
361 CFYIHAKMRQ EHRNRVFHDF RNGLCRNLVC TDLFTRGIDI QAVNVVINFD FPKLAETYLH
421 RIGRSGRFGH LGLAINLITY DDRFNLKSIE EQLGTEIKPI PSNIDKSLYV AEYHSEPVED
481 EKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDX6 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)
- 0.31
- Highest tissue expression
- 65 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 65 nTPM
- tonsil: 57 nTPM
- thymus: 51 nTPM
- lymph node: 46 nTPM
- retina: 45 nTPM
- spleen: 43 nTPM
Single-cell type
- neutrophils: 379 nCPM
- neutrophil progenitors: 267 nCPM
- nk-cells: 245 nCPM
- b-cells: 235 nCPM
- t-cells: 222 nCPM
- innate lymphoid cells: 210 nCPM
Immune cell
- neutrophil: 19 nTPM
- basophil: 14 nTPM
- eosinophil: 13 nTPM
- non-classical monocyte: 13 nTPM
- MAIT T-cell: 12 nTPM
- naive CD4 T-cell: 12 nTPM
Brain region
- cerebellum: 150 nTPM
- white matter: 124 nTPM
- hypothalamus: 122 nTPM
- basal ganglia: 120 nTPM
- cerebral cortex: 114 nTPM
- spinal cord: 110 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DDX6.
Disease | AllUniProt
Conditions DDX6 is implicated in, by any mechanism.
- Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) MIM:618653
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 113 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder with impaired language and dysmorphic facies
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)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.78
- DepMap mean gene effect
- -0.8
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- miRNA-mediated gene silencing by inhibition of translation
- negative regulation of neuron differentiation
- negative regulation of translation
- neuron differentiation
- P-body assembly
- spermatid differentiation
- stem cell population maintenance
- stress granule assembly
- viral RNA genome packaging
Molecular functions
- ATP binding
- ATP hydrolysis activity
- cadherin binding
- helicase activity
- mRNA binding
- protein domain specific binding
- RNA binding
- RNA helicase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ATP-dependent RNA helicase DEAD-box, conserved site
- Helicase, C-terminal domain-like
- DEAD/DEAH-box helicase domain
- Helicase superfamily 1/2, ATP-binding domain
- RNA helicase, DEAD-box type, Q motif
- P-loop containing nucleoside triphosphate hydrolase
- DEAD/DEAH box helicase
- Helicase conserved C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDX6 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 DDX6 as an antibody target. Whether an autoantibody or antibody against DDX6 could matter depends on whether native DDX6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDX6 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 DDX6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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