DDX53 DEAD-box helicase 53 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX53provided by HGNC
Official Full Name: DEAD-box helicase 53provided by HGNC
Primary source: HGNC:HGNC:20083
See related: Ensembl:ENSG00000184735 MIM:301079; AllianceGenome:HGNC:20083
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAGE; CT26
Summary: 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. [provided by RefSeq, Sep 2011]
Orthologs: all
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Genomic context

Location:: Xp22.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (22999960..23003589)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (22583485..22587114)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (23018077..23021706)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
Title: Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
DDX53 plays a critical role in taxol-resistance by activating autophagy and a potential therapeutic target for the treatment of taxol-resistant cervix cancer.
Title: Role of DDX53 in taxol-resistance of cervix cancer cells in vitro.
A novel role of DDX53 in regulating cancer stem cell-like properties by binding to SOX-2.DDX53 directly regulates the SOX-2 expression in drug-resistant melanoma cells.
Title: DDX53 Regulates Cancer Stem Cell-Like Properties by Binding to SOX-2.
DDX53 promotes stem cell-like properties, autophagy, and confers resistance to anti-cancer drugs in breast cancer cells.
Title: DDX53 Promotes Cancer Stem Cell-Like Properties and Autophagy.
Results provide evidence that miR-30a forms a positive feedback loop with CAGE to regulate the expression of p53 confering resistance to anti-cancer drugs.
Title: miR-30a Regulates the Expression of CAGE and p53 and Regulates the Response to Anti-Cancer Drugs.
miR-217-CAGE feedback loop serves as a target for overcoming resistance to various anti-cancer drugs, including EGFR and HER2 inhibitors.
Title: miR-217 and CAGE form feedback loop and regulates the response to anti-cancer drugs through EGFR and HER2.
Results show the direct regulation of CAGE expression by HDAC3 and that HDAC3-CAGE axis regulates the activation of EGFR. HDAC3 targets CAGE to regulate the tumorigenic potential and angiogenic potential of cancer cells.
Title: Histone Deacetylase-3/CAGE Axis Targets EGFR Signaling and Regulates the Response to Anti-Cancer Drugs.
CAGE induced the interaction between histone deacetylase 2 (HDAC2) and Snail, which exerted a negative effect on p53 expression in neoplastic cells; CAGE confers drug resistance by regulating expression of p53 through HDAC2.
Title: Cancer/testis antigen CAGE exerts negative regulation on p53 expression through HDAC2 and confers resistance to anti-cancer drugs.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Functional impact of global rare copy number variation in autism spectrum disorders.
The CAGE gene is widely expressed in various cancer tissues and cancer cell lines.
Title: Role of CAGE, a novel cancer/testis antigen, in various cellular processes, including tumorigenesis, cytolytic T lymphocyte induction, and cell motility.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: DEAD box protein 53

Names: DEAD (Asp-Glu-Ala-Asp) box polypeptide 53; DEAD-box protein CAGE; cancer-associated gene protein; cancer/testis antigen 26; probable ATP-dependent RNA helicase DDX53

NP_874358.2

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021439.1 RefSeqGene

Range

4991..8620

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_182699.4 → NP_874358.2 DEAD box protein 53

See identical proteins and their annotated locations for NP_874358.2

Status: REVIEWED

Source sequence(s)

AC117517, AY039237, BC067878

Consensus CDS

CCDS35214.1

UniProtKB/Swiss-Prot

Q0D2N2, Q6NVV4, Q86TM3

Related

ENSP00000368667.2, ENST00000327968.7

Conserved Domains (4) summary

smart00487
Location:237 → 435

DEXDc; DEAD-like helicases superfamily

cd00079
Location:441 → 570

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd00105
Location:53 → 110

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

cd00268
Location:231 → 428

DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...