MOV10

Mov10 RISC Complex RNA Helicase

Gene Information Card

Symbol MOV10
Full Name Mov10 RISC Complex RNA Helicase
Gene Type Protein-coding
Chromosomal Location 1p13.2
NCBI Gene ID 4343 ncbi.nlm.nih.gov/gene/4343
Ensembl ID ENSG00000155363
UniProt ID Q9HCE1
OMIM ID 609769
HGNC ID 7201
Aliases MOV10L1, fSAP113, SMAP-1, HELIC1

Description

MOV10 encodes a putative RNA helicase that is a component of the RNA-induced silencing complex (RISC). It is involved in RNA interference, microRNA-mediated gene silencing, and regulation of retrotransposon activity. The protein localizes to cytoplasmic processing bodies (P-bodies) and interacts with Argonaute proteins. MOV10 also plays a role in antiviral defense and neurodevelopment.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of MOV10 expression affects miRNA processing and oncogene/tumor suppressor expression COSMIC, literature
Neurodevelopmental disorders MOV10 mutations or altered expression linked to intellectual disability and autism spectrum disorders ClinVar, literature
Viral infections MOV10 restricts replication of HIV-1, hepatitis B virus, and other retroviruses via RISC-mediated mechanisms UniProt, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain (cerebral cortex) 8.2 Low
Lung 6.1 Low
Liver 4.8 Low
Kidney 5.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.1 Moderate expression
HeLa 7.8 Low expression
K562 6.5 Low expression
SH-SY5Y 9.0 Moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.01% Loss of function, associated with neurodevelopmental phenotypes
c.567G>A (p.Glu189Lys) Missense <0.01% Unknown functional effect, reported in ClinVar
c.2345_2346insA Frameshift <0.01% Loss of function, reported in cancer
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations lead to truncated or absent protein, impairing RISC function and miRNA silencing.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• RNA helicase activity • ATP binding
• RNA binding • miRNA binding
• RISC complex • cytoplasmic processing body
• regulation of gene silencing by miRNA • defense response to virus

Pathways

• RNA interference (RNAi) pathway
• MicroRNA (miRNA) biogenesis and function
• RISC loading complex pathway

Protein Summary

MOV10 is a 1003-amino acid RNA helicase belonging to the UPF1-like family. It contains a conserved helicase domain and is essential for RISC-mediated RNA silencing. The protein shuttles between nucleus and cytoplasm, and its expression is enriched in testis and brain. MOV10 interacts with AGO2, DICER1, and TRBP, and is implicated in antiviral immunity and suppression of LINE-1 retrotransposons.

Related Products

Product name Cat.No. Species Gene ID
MOV10 Knockout HEK293 Cell Line EDJ-KQ3342 Human 4343 Details Get a Quote
MOV10L1 Knockout HEK293 Cell Line EDJ-KQ11420 Human 54456 Details Get a Quote
MOV10 Knockout A-549 Cell Line EDJ-KQ24982 Human 4343 Details Get a Quote
MOV10 Knockout HCT 116 Cell Line EDJ-KQ24983 Human 4343 Details Get a Quote
MOV10 Knockout HeLa Cell Line EDJ-KQ24984 Human 4343 Details Get a Quote
MOV10L1 Knockout HeLa Cell Line EDJ-KQ56417 Human 54456 Details Get a Quote
MOV10L1 Knockout A-549 Cell Line EDJ-KQ64910 Human 54456 Details Get a Quote
MOV10L1 Knockout HCT 116 Cell Line EDJ-KQ73355 Human 54456 Details Get a Quote
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