DDX59
Probable ATP-dependent RNA helicase DDX59
Also known as: DDX59_HUMAN, DKFZP564B1023, ZNHIT5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5T1V6
- Gene
- DDX59
- Ensembl
- ENSG00000118197
- Chromosome
- 1
- Canonical length
- 619 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Actin filaments,Basal body
OverviewNCBI Gene
Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be located in cytoplasm; membrane; and nucleus. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
619 residues, UniProt reviewed canonical sequence.
>Q5T1V6|DDX59
1 MFVPRSLKIK RNANDDGKSC VAKIIKPDPE DLQLDKSRDV PVDAVATEAA TIDRHISESC
61 PFPSPGGQLA EVHSVSPEQG AKDSHPSEEP VKSFSKTQRW AEPGEPICVV CGRYGEYICD
121 KTDEDVCSLE CKAKHLLQVK EKEEKSKLSN PQKADSEPES PLNASYVYKE HPFILNLQED
181 QIENLKQQLG ILVQGQEVTR PIIDFEHCSL PEVLNHNLKK SGYEVPTPIQ MQMIPVGLLG
241 RDILASADTG SGKTAAFLLP VIMRALFESK TPSALILTPT RELAIQIERQ AKELMSGLPR
301 MKTVLLVGGL PLPPQLYRLQ QHVKVIIATP GRLLDIIKQS SVELCGVKIV VVDEADTMLK
361 MGFQQQVLDI LENIPNDCQT ILVSATIPTS IEQLASQLLH NPVRIITGEK NLPCANVRQI
421 ILWVEDPAKK KKLFEILNDK KLFKPPVLVF VDCKLGADLL SEAVQKITGL KSISIHSEKS
481 QIERKNILKG LLEGDYEVVV STGVLGRGLD LISVRLVVNF DMPSSMDEYV HQIGRVGRLG
541 QNGTAITFIN NNSKRLFWDI AKRVKPTGSI LPPQLLNSPY LHDQKRKEQQ KDKQTQNDLV
601 TGANLMDIIR KHDKSNSQKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDX59 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)
- 0.33
- Highest tissue expression
- 31 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 31 nTPM
- skeletal muscle: 31 nTPM
- breast: 25 nTPM
- skin: 25 nTPM
- spleen: 22 nTPM
- thymus: 21 nTPM
Single-cell type
- neutrophils: 69 nCPM
- syncytiotrophoblasts: 65 nCPM
- extravillous trophoblasts: 45 nCPM
- myosatellite cells: 44 nCPM
- fibro-adipogenic progenitors: 41 nCPM
- thymocytes: 39 nCPM
Immune cell
- basophil: 34 nTPM
- eosinophil: 25 nTPM
- neutrophil: 23 nTPM
- non-classical monocyte: 22 nTPM
- T-reg: 20 nTPM
- NK-cell: 17 nTPM
Brain region
- medulla oblongata: 25 nTPM
- white matter: 24 nTPM
- cerebellum: 24 nTPM
- spinal cord: 23 nTPM
- choroid plexus: 21 nTPM
- pons: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DDX59.
Disease | AllUniProt
Conditions DDX59 is implicated in, by any mechanism.
- Orofaciodigital syndrome 5 (OFD5) MIM:174300
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 180 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Orofaciodigital syndrome V
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)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.78
- DepMap mean gene effect
- -0.96
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Helicase, C-terminal domain-like
- Zinc finger, HIT-type
- 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 box RNA helicase
- DEAD/DEAH box helicase
- Helicase conserved C-terminal domain
- HIT zinc finger
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DDX59 as an antibody target. Whether an autoantibody or antibody against DDX59 could matter depends on whether native DDX59 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDX59 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 DDX59 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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