DHX29: DEAH-Box Helicase 29 – Key Regulator of mRNA Translation and Cell Growth

Comprehensive gene card for DHX29, including genomic data, expression, mutations, and disease associations.

Gene Information Card

Symbol DHX29
Full Name DEAH-box helicase 29
Gene Type Protein coding
Chromosomal Location 5q11.2
NCBI Gene ID 54505 ncbi.nlm.nih.gov/gene/54505
Ensembl ID ENSG00000113520
UniProt ID Q7Z6Z1
OMIM ID 612322
HGNC ID 29118
Aliases DDX29, DKFZp686F20107

Description

DHX29 (DEAH-box helicase 29) encodes a member of the DEAH-box family of RNA helicases. The protein is involved in translation initiation, specifically in the scanning and start codon recognition process, and is essential for efficient mRNA translation, particularly for mRNAs with structured 5' untranslated regions. DHX29 also plays a role in ribosome biogenesis and cell proliferation. Mutations and altered expression of DHX29 have been implicated in various cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Overexpression promotes translation of oncogenic mRNAs PubMed: 23543789
Breast cancer DHX29 amplification correlates with poor prognosis PubMed: 25691885
Neurodevelopmental disorder De novo missense variants impair helicase activity ClinVar: RCV000626262

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 28.5 High
Brain 12.3 Medium
Liver 8.7 Medium
Heart 6.1 Low
Lung 5.4 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 18.2 Cervical cancer cell line
HEK293 15.6 Embryonic kidney cell line
MCF7 22.1 Breast cancer cell line
HCT116 20.8 Colorectal cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1012C>T (p.Arg338Trp) Missense 0.01% (gnomAD) Reduced helicase activity
c.1543G>A (p.Gly515Arg) Missense 0.005% (gnomAD) Impaired translation initiation
c.2101_2102insA (p.Thr701Asnfs*3) Frameshift Rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the helicase domain lead to loss of RNA unwinding activity and impaired translation.

Gain of Function (GOF)

Not well characterized; some missense variants may increase helicase activity but evidence is limited.

Dominant Negative (DN)

Missense mutations in the helicase domain can interfere with wild-type DHX29 function, reducing translation efficiency.

Pathways

Eukaryotic translation initiation (Reactome: R-HSA-72649)
Cap-dependent translation initiation (Reactome: R-HSA-72737)
Ribosome biogenesis (Reactome: R-HSA-8868773)

Protein Summary

DHX29 is a 1369-amino acid DEAH-box RNA helicase that localizes to the cytoplasm and nucleus. It contains a conserved helicase ATP-binding domain and a helicase C-terminal domain. The protein unwinds RNA secondary structures in the 5' UTR of mRNAs, facilitating ribosome scanning and start codon selection. DHX29 interacts with components of the 43S preinitiation complex and is critical for translation of mRNAs with complex 5' UTRs, including many oncogenes. Its expression is elevated in proliferating cells and tumors.

Related Products

Product name Cat.No. Species Gene ID
DHX29 Knockout HEK293 Cell Line EDJ-KQ11444 Human 54505 Details Get a Quote
DHX29 Knockout A-549 Cell Line EDJ-KQ39721 Human 54505 Details Get a Quote
DHX29 Knockout HCT 116 Cell Line EDJ-KQ39722 Human 54505 Details Get a Quote
DHX29 Knockout HeLa Cell Line EDJ-KQ39723 Human 54505 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
Contact Us
*
*
*
*
How did you hear about us: