DDX39A
ATP-dependent RNA helicase DDX39A
Also known as: BAT1L, DDX39, DDXL, DX39A_HUMAN, URH49
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00148
- Gene
- DDX39A
- Ensembl
- ENSG00000123136
- Chromosome
- 19
- Canonical length
- 427 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
427 residues, UniProt reviewed canonical sequence.
>O00148|DDX39A
1 MAEQDVENDL LDYDEEEEPQ APQESTPAPP KKDIKGSYVS IHSSGFRDFL LKPELLRAIV
61 DCGFEHPSEV QHECIPQAIL GMDVLCQAKS GMGKTAVFVL ATLQQIEPVN GQVTVLVMCH
121 TRELAFQISK EYERFSKYMP SVKVSVFFGG LSIKKDEEVL KKNCPHVVVG TPGRILALVR
181 NRSFSLKNVK HFVLDECDKM LEQLDMRRDV QEIFRLTPHE KQCMMFSATL SKDIRPVCRK
241 FMQDPMEVFV DDETKLTLHG LQQYYVKLKD SEKNRKLFDL LDVLEFNQVI IFVKSVQRCM
301 ALAQLLVEQN FPAIAIHRGM AQEERLSRYQ QFKDFQRRIL VATNLFGRGM DIERVNIVFN
361 YDMPEDSDTY LHRVARAGRF GTKGLAITFV SDENDAKILN DVQDRFEVNV AELPEEIDIS
421 TYIEQSRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DDX39A 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)
- 0.27
- Highest tissue expression
- 156 nTPM
Expression across tissuesHPA
Tissue
- testis: 156 nTPM
- bone marrow: 99 nTPM
- thymus: 75 nTPM
- lymph node: 71 nTPM
- tonsil: 61 nTPM
- spleen: 57 nTPM
Single-cell type
- late primary spermatocytes: 530 nCPM
- late spermatids: 380 nCPM
- early spermatids: 288 nCPM
- early primary spermatocytes: 227 nCPM
- esophageal basal cells: 179 nCPM
- extravillous trophoblasts: 142 nCPM
Immune cell
- T-reg: 153 nTPM
- total PBMC: 136 nTPM
- memory B-cell: 133 nTPM
- myeloid DC: 131 nTPM
- naive B-cell: 126 nTPM
- gdT-cell: 120 nTPM
Brain region
- white matter: 28 nTPM
- medulla oblongata: 23 nTPM
- cerebellum: 22 nTPM
- pons: 21 nTPM
- thalamus: 20 nTPM
- basal ganglia: 19 nTPM
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)
- 0.45
- gnomAD pLI
- 0.6
- gnomAD missense Z
- 2.94
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
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
- mRNA export from nucleus
- mRNA splicing, via spliceosome
- negative regulation of innate immune response
- negative regulation of RNA export from nucleus
- RNA export from nucleus
Molecular functions
- ATP binding
- ATP hydrolysis activity
- identical protein binding
- mRNA binding
- RNA binding
- RNA helicase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DDX39A 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 DDX39A as an antibody target. Whether an autoantibody or antibody against DDX39A could matter depends on whether native DDX39A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DDX39A 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 DDX39A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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