DDX46 (DEAD-box helicase 46)

2007-04-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
PRPF5,Prp5
FUSION GENES

Other Information

Locus ID:

NCBI: 9879
MIM: 617848
HGNC: 18681
Ensembl: ENSG00000145833

Variants:

dbSNP: 9879
ClinVar: 9879
TCGA: ENSG00000145833
COSMIC: DDX46

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145833ENST00000354283Q7L014
ENSG00000145833ENST00000452510A0A0C4DG89
ENSG00000145833ENST00000507053H0Y9U3
ENSG00000145833ENST00000507392D6RJA6
ENSG00000145833ENST00000513592H0YAD5
ENSG00000145833ENST00000628477D6RJA6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
122349372002Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein.100
147139542004Prp5 bridges U1 and U2 snRNPs and enables stable U2 snRNP association with intron RNA.40
256805562015Lentiviral DDX46 knockdown inhibits growth and induces apoptosis in human colorectal cancer cells.6
276970932017Knockdown of DDX46 Inhibits the Invasion and Tumorigenesis in Osteosarcoma Cells.2
199020702009Changed profile of splicing regulator genes expression in response to exercise.1
271768732016Knockdown of DDX46 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma cells.1

Citation

Dessen P

DDX46 (DEAD-box helicase 46)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46911/ddx46