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
Gene location (Human)
Chr.	X chromosome (human)
End	23,003,589 bp
RNA expression pattern
	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
	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
	168400
	n/a
	ENSG00000184735
	n/a
	Q86TM3
	n/a
	NM_182699
	n/a
	NP_874358
	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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000184735 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: DEAD-box helicase 53". Retrieved 2017-08-18.
↑ "genetic-discovery-reveals-direct-link-to-autism-key-player". www.msn.com.
↑ Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, et al. (January 2025). "Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus". American Journal of Human Genetics. 112 (1): 154–167. doi:10.1016/j.ajhg.2024.11.003. PMC 11739878. PMID 39706195.

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000184735 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: DEAD-box helicase 53". Retrieved 2017-08-18.

[4] "genetic-discovery-reveals-direct-link-to-autism-key-player". www.msn.com.

[5] Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, et al. (January 2025). "Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus". American Journal of Human Genetics. 112 (1): 154–167. doi:10.1016/j.ajhg.2024.11.003. PMC 11739878. PMID 39706195.

DDX53

Function

Clinical significance

References

Further reading