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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MOV10L1
Mov10 like RNA helicase 1
Chromosome 22 Β· 22q13.33
NCBI Gene: 54456Ensembl: ENSG00000073146.17HGNC: HGNC:7201UniProt: Q9BXT6
21PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
germ cell developmentspermatogenesisRNA helicase activitypi-bodyspermatogenic failure 73azoospermiamale infertility with azoospermia or oligozoospermia due to single gene mutationmale infertility
✦AI Summary

MOV10L1 is an ATP-dependent RNA helicase essential for germline integrity and spermatogenesis. Its primary function is to process piRNA precursors through 5'-3' RNA unwinding activity, facilitating generation of intermediate piRNA fragments that are subsequently loaded onto Piwi proteins 1. MOV10L1 operates within the piRNA metabolic pathway to suppress transposable element mobilization via piRNA-mediated DNA methylation and silencing 1. Mechanistically, MOV10L1 specifically binds piRNA precursors and promotes their unwinding and funneling to PLD6 endonuclease, which catalyzes initial piRNA cleavage 2. The protein functions in both primary and secondary (ping-pong cycle) piRNA processing 1. MOV10L1 deficiency causes meiotic arrest and male sterility through de-repression of retrotransposons and defective piRNA biogenesis 2. Recent evidence demonstrates that piRNA pathway dysfunction affects both sexes; Mov10l1-knockout female hamsters exhibit oocyte developmental failure, contrary to mouse models 3. Clinically, MOV10L1 polymorphisms are significantly associated with male infertility in men with complete spermatogenic maturation arrest 4, and deleterious variants have been identified in infertile patients through whole-exome sequencing 5. Additionally, MOV10L1 polymorphisms on chromosome 22 show genetic linkage to integrated human herpesvirus-6 sequences, suggesting roles in suppressing viral genome integration 6.

Sources cited
1
MOV10L1's role in primary piRNA processing, ping-pong cycle, and retrotransposon silencing by DNA methylation
PMID: 25667429
2
MOV10L1 gene polymorphisms are associated with male infertility in azoospermic men with complete maturation arrest
PMID: 24817005
3
MOV10L1 polymorphisms on chr22q are linked to integrated HHV-6 sequences and piRNA-mediated repression of viral integration
PMID: 32776928
4
Deleterious MOV10L1 variants identified in patients with maturation arrest through whole-exome sequencing
PMID: 35413094
5
Mov10l1 knockout causes sterility in both male and female hamsters, with impaired germ cell development and retrotransposon de-repression
PMID: 34489573
6
MOV10L1-PLD6 interaction is critical for piRNA biogenesis; N-terminal mutations disrupt this interaction and cause meiotic arrest
PMID: 33635934
Disease Associationsβ“˜21
spermatogenic failure 73Open Targets
0.62Moderate
azoospermiaOpen Targets
0.48Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.39Weak
male infertilityOpen Targets
0.32Weak
cervical carcinomaOpen Targets
0.17Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
Spermatogenic failure 73UniProt
Pathogenic Variants4
NM_018995.3(MOV10L1):c.2179+3A>GLikely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023
NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile)Likely pathogenic
Spermatogenic failure 73|Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 816
NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)Pathogenic
Spermatogenic failure 73|Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 1032
NM_018995.3(MOV10L1):c.743+5G>APathogenic
Azoospermia
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
ASZ1Protein interaction92%PIWIL1Protein interaction90%TDRKHProtein interaction90%HENMT1Protein interaction89%TDRD1Protein interaction82%PLD6Protein interaction79%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
67%
Heart
14%
Brain
14%
Liver
12%
Lung
11%
Gene Interaction Network
Click a node to explore
MOV10L1ASZ1PIWIL1TDRKHHENMT1TDRD1PLD6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BXT6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.61–0.87]
RankingsWhere MOV10L1 stands among ~20K protein-coding genes
  • #13,957of 20,598
    Most Researched21
  • #3,855of 5,498
    Most Pathogenic Variants4
  • #7,690of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedMOV10L1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
MOV10L1 in piRNA processing and gene silencing of retrotransposons during spermatogenesis.
PMID: 25667429
Reproduction Β· 2015
1.00
2
Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest.
PMID: 24817005
J Assist Reprod Genet Β· 2014
0.90
3
Endogenization and excision of human herpesvirus 6 in human genomes.
PMID: 32776928
PLoS Genet Β· 2020
0.80
4
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.
PMID: 35413094
Hum Reprod Β· 2022
0.70
5
Formation of spermatogonia and fertile oocytes in golden hamsters requires piRNAs.
PMID: 34489573
Nat Cell Biol Β· 2021
0.60