DDX23
Probable ATP-dependent RNA helicase DDX23
Also known as: DDX23_HUMAN, prp28, PRPF28, SNRNP100, U5-100KD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BUQ8
- Gene
- DDX23
- Ensembl
- ENSG00000174243
- Chromosome
- 12
- Canonical length
- 820 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
This gene encodes a member of the DEAD box protein family. 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 component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
820 residues, UniProt reviewed canonical sequence.
>Q9BUQ8|DDX23
1 MAGELADKKD RDASPSKEER KRSRTPDRER DRDRDRKSSP SKDRKRHRSR DRRRGGSRSR
61 SRSRSKSAER ERRHKERERD KERDRNKKDR DRDKDGHRRD KDRKRSSLSP GRGKDFKSRK
121 DRDSKKDEED EHGDKKPKAQ PLSLEELLAK KKAEEEAEAK PKFLSKAERE AEALKRRQQE
181 VEERQRMLEE ERKKRKQFQD LGRKMLEDPQ ERERRERRER MERETNGNED EEGRQKIREE
241 KDKSKELHAI KERYLGGIKK RRRTRHLNDR KFVFEWDASE DTSIDYNPLY KERHQVQLLG
301 RGFIAGIDLK QQKREQSRFY GDLMEKRRTL EEKEQEEARL RKLRKKEAKQ RWDDRHWSQK
361 KLDEMTDRDW RIFREDYSIT TKGGKIPNPI RSWKDSSLPP HILEVIDKCG YKEPTPIQRQ
421 AIPIGLQNRD IIGVAETGSG KTAAFLIPLL VWITTLPKID RIEESDQGPY AIILAPTREL
481 AQQIEEETIK FGKPLGIRTV AVIGGISRED QGFRLRMGCE IVIATPGRLI DVLENRYLVL
541 SRCTYVVLDE ADRMIDMGFE PDVQKILEHM PVSNQKPDTD EAEDPEKMLA NFESGKHKYR
601 QTVMFTATMP PAVERLARSY LRRPAVVYIG SAGKPHERVE QKVFLMSESE KRKKLLAILE
661 QGFDPPIIIF VNQKKGCDVL AKSLEKMGYN ACTLHGGKGQ EQREFALSNL KAGAKDILVA
721 TDVAGRGIDI QDVSMVVNYD MAKNIEDYIH RIGRTGRAGK SGVAITFLTK EDSAVFYELK
781 QAILESPVSS CPPELANHPD AQHKPGTILT KKRREETIFALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDX23 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)
- 0.4
- Highest tissue expression
- 52 nTPM
Expression across tissuesHPA
Tissue
- thymus: 52 nTPM
- skeletal muscle: 52 nTPM
- spleen: 46 nTPM
- liver: 41 nTPM
- small intestine: 39 nTPM
- skin: 37 nTPM
Single-cell type
- erythrocyte progenitors: 64 nCPM
- early primary spermatocytes: 53 nCPM
- salivary acinar cells: 45 nCPM
- megakaryocyte progenitors: 45 nCPM
- monocyte progenitors: 44 nCPM
- salivary duct cells: 41 nCPM
Immune cell
- eosinophil: 19 nTPM
- MAIT T-cell: 17 nTPM
- gdT-cell: 16 nTPM
- memory CD8 T-cell: 14 nTPM
- basophil: 14 nTPM
- naive CD8 T-cell: 13 nTPM
Brain region
- thalamus: 21 nTPM
- medulla oblongata: 20 nTPM
- choroid plexus: 20 nTPM
- spinal cord: 19 nTPM
- basal ganglia: 19 nTPM
- hypothalamus: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DDX23.
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 147 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.36
- gnomAD pLI
- 0.54
- gnomAD missense Z
- 4.62
- DepMap mean gene effect
- -1.03
- 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
- cis assembly of pre-catalytic spliceosome
- mRNA splicing, via spliceosome
- R-loop processing
- RNA splicing
- RNA splicing, via transesterification reactions
Molecular functions
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
- PRP28/DDX23-like, helical domain
- DDX23-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDX23 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 DDX23 as an antibody target. Whether an autoantibody or antibody against DDX23 could matter depends on whether native DDX23 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDX23 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 DDX23 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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