MOV10L1
Mov10 Like 1, RNA Helicase
Gene Information Card
| Symbol | MOV10L1 |
|---|---|
| Full Name | Mov10 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 54456 ncbi.nlm.nih.gov/gene/54456 |
| Ensembl ID | ENSG00000100320 |
| UniProt ID | Q9BXT6 |
| OMIM ID | 610384 |
| HGNC ID | 7201 |
| Aliases | MOV10L1, C22orf9, dJ295M14.1 |
Description
MOV10L1 encodes an RNA helicase of the UPF1/DHH1 family, essential for piRNA biogenesis and transposon silencing in the male germline. It is predominantly expressed in testis and required for spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Loss-of-function mutations disrupt piRNA pathway, leading to meiotic arrest and germ cell loss | ClinVar, OMIM |
| Non-obstructive azoospermia | Defective MOV10L1 impairs transposon repression, causing spermatogenic failure | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 44.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Moderate expression |
| Embryonic stem cells (H1) | 0.2 | Low |
| HeLa | 0.1 | Not detected |
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 helicase domain, predicted loss of function |
| c.2567A>G (p.Tyr856Cys) | Missense | <0.01% | Unknown significance, may affect RNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MOV10L1 cause loss of helicase activity, disrupting piRNA biogenesis and leading to meiotic arrest in spermatocytes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • piRNA metabolic process (GO:0034587) | • transposon silencing (GO:0031047) |
| • male meiotic nuclear division (GO:0007141) |
Pathways
• piRNA pathway (Reactome: R-HSA-5601884)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
MOV10L1 is a 1030-amino-acid RNA helicase localized to the nuage in spermatocytes. It binds piRNA precursors and facilitates their processing into mature piRNAs, which silence transposable elements during meiosis. Loss of MOV10L1 leads to transposon derepression, DNA damage, and spermatogenic arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOV10L1 Knockout HEK293 Cell Line | EDJ-KQ11420 | Human | 54456 | 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 |
