DDX53 (DEAD-box helicase 53)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 168400
Gene name DEAD-box helicase 53
Gene symbol DDX53
Synonyms (NCBI Gene)
CAGECT26
Chromosome X
Chromosome location Xp22.11
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]
miRNA miRNA information provided by mirtarbase database.
26
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
miRTarBase ID miRNA Experiments Reference
MIRT438476 hsa-miR-200b-3p Luciferase reporter assay 24174534
MIRT438476 hsa-miR-200b-3p Luciferase reporter assay 24174534
MIRT438476 hsa-miR-200b-3p Luciferase reporter assay 24174534
MIRT438476 hsa-miR-200b-3p Luciferase reporter assay 24174534
MIRT663797 hsa-miR-1250-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003724 Function RNA helicase activity IBA
GO:0003724 Function RNA helicase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301079 20083 ENSG00000184735
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TM3
Protein name Probable ATP-dependent RNA helicase DDX53 (EC 3.6.4.13) (Cancer-associated gene protein) (Cancer/testis antigen 26) (CT26) (DEAD box protein 53) (DEAD box protein CAGE)
PDB 3IUY , 8KCA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00013 KH_1 51 → 111 KH domain Domain
PF00270 DEAD 246 → 417 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 452 → 562 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. Wide expression in various cancer tissues and cancer cell lines. {ECO:0000269|PubMed:11922625}.
Sequence 
MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMV
GVVIGYSGSKIKDLQHSTNTKIQIINGESEAKVRIFGNREMKAKAKAAIETLIRKQESYN
SESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAVVECEKRKWADLPPVKKNFYI
ESKATSCMSEMQVINWRKENFNITCDDLKSGEKRLIPKPTCRFKDAFQQYPDLLKSIIRV
GIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGML
VLTPTRELALHVEAECSKYSYKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQ
MNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPDRQTVMTSATWPDTVRQLALS
YLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIA
DDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTDIVSRGLDLNDVTHVY
NYDFPRNIDVYVHRVGYIGRTGKTGTSVTLITQRDSKMAGELIKILDRANQSVPEDLVVM
AEQYKLNQQKRHRETRSRKPGQRRKEFYFLS
Sequence length 631
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DDX53-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (87)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27064118, 28112357
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 28575741, 29289836, 30259976, 31021732, 31233199, 31559450
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 28112357
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29945023
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 40137764 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31540669, 36635662 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31540669
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 20531469, 36635662 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 35849255 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 36017582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only