DDX53

DEAD-box helicase 53 is a protein that in humans is encoded by the DDX53 gene. ^[3]

DDX53
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3IUY
Identifiers
Aliases	DDX53, CAGE, CT26, DEAD-box helicase 53
External IDs	HomoloGene: 85175; GeneCards: DDX53; OMA:DDX53 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.11 Start 22,999,960 bp[1] End 23,003,589 bp[1]
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 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 [2] n/a
Wikidata
View/Edit Human

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. In 2024 it was found that variants of DDX53 is linked to Autism^[4]