DDX53

DDX53
Identifiers
Aliases	DDX53, CAGE, CT26, DEAD-box helicase 53
External IDs	GeneCards: DDX53
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3IUY
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.6.4.13 ↗ ↗ ↗ ↗
Gene location (Human) Chr. X chromosome (human) Band Xp22.11 Start 22,999,960 bp End 23,003,589 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad testicle sperm right testis left testis human musculoskeletal system muscular system skeletal muscle lower limb muscles muscle of leg n/a More reference expression data BioGPS n/a
Gene ontology Molecular function ATP binding hydrolase activity nucleotide binding nucleic acid binding helicase activity RNA binding Cellular component nucleus nucleolus cytoplasm Biological process RNA secondary structure unwinding Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 168400 n/a Ensembl ENSG00000184735 n/a UniProt Q86TM3 n/a RefSeq (mRNA) NM_182699 n/a RefSeq (protein) NP_874358 n/a Location (UCSC) Chr X: 23 – 23 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

DEAD-box helicase 53 is a protein that in humans is encoded by the DDX53 gene.

Function

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding.

Clinical significance

In 2024 it was found that variants of DDX53 is linked to Autism

Further reading

• Cho B, Lim Y, Lee DY, Park SY, Lee H, Kim WH, et al. (2002). "Identification and characterization of a novel cancer/testis antigen gene CAGE". Biochemical and Biophysical Research Communications. 292 (3): 715–726. Bibcode:2002BBRC..292..715C. doi:10.1006/bbrc.2002.6701. PMID 11922625.
• Cho B, Lee H, Jeong S, Bang YJ, Lee HJ, Hwang KS, et al. (2003). "Promoter hypomethylation of a novel cancer/testis antigen gene CAGE is correlated with its aberrant expression and is seen in premalignant stage of gastric carcinoma". Biochemical and Biophysical Research Communications. 307 (1): 52–63. Bibcode:2003BBRC..307...52C. doi:10.1016/s0006-291x(03)01121-5. PMID 12849980.
• Shim H, Lee H, Jeoung D (2006). "Cancer/testis antigen cancer-associated gene (CAGE) promotes motility of cancer cells through activation of focal adhesion kinase (FAK)". Biotechnology Letters. 28 (24): 2057–2063. doi:10.1007/s10529-006-9190-8. PMID 17028776. S2CID 7168043.
• Lee TS, Kim JW, Kang GH, Park NH, Song YS, Kang SB, et al. (2006). "DNA hypomethylation of CAGE promotors in squamous cell carcinoma of uterine cervix". Annals of the New York Academy of Sciences. 1091 (1): 218–224. Bibcode:2006NYASA1091..218L. doi:10.1196/annals.1378.068. PMID 17341616. S2CID 28013856.
• Kim Y, Jeoung D (2008). "Role of CAGE, a novel cancer/testis antigen, in various cellular processes, including tumorigenesis, cytolytic T lymphocyte induction, and cell motility". Journal of Microbiology and Biotechnology. 18 (3): 600–610. PMID 18388483.
• Kim Y, Park H, Park D, Lee YS, Choe J, Hahn JH, et al. (2010). "Cancer/testis antigen CAGE exerts negative regulation on p53 expression through HDAC2 and confers resistance to anti-cancer drugs". The Journal of Biological Chemistry. 285 (34): 25957–25968. doi:10.1074/jbc.M109.095950. PMC 2923988. PMID 20534591.
• Kim Y, Kim H, Park D, Han M, Lee H, Lee YS, et al. (2016). "miR-217 and CAGE form feedback loop and regulates the response to anti-cancer drugs through EGFR and HER2". Oncotarget. 7 (9): 10297–10321. doi:10.18632/oncotarget.7185. PMC 4891121. PMID 26863629.
• Kim H, Kim Y, Goh H, Jeoung D (2016). "Histone Deacetylase-3/CAGE Axis Targets EGFR Signaling and Regulates the Response to Anti-Cancer Drugs". Molecules and Cells. 39 (3): 229–241. doi:10.14348/molcells.2016.2244. PMC 4794605. PMID 26883907.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.