• Gene id: 54456

Gene Summary

• Gene Symbol: MOV10L1   Gene   UCSC   Ensembl
• Aliases: CHAMP, DJ402G11.8
• Gene name: Mov10 RISC complex RNA helicase like 1
• Alternate names: RNA helicase Mov10l1, MOV10-like protein 1, Mov10-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog, cardiac helicase activated by MEF2C protein, moloney leukemia virus 10-like protein 1, putative helicase Mov10l1,
• Gene location: 22q13.33 (50090005: 50161704)     Exons: 34     NC_000022.11
• Gene summary(Entrez): This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
• OMIM: 605794

SNPs

rs12484907

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

rs12170772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50145832C>A
NC_000022.11   g.50145832C>T
NC_000022.10   g.50584261C>A
NC_000022.10   g.50584261C>T|SEQ=[C/A/T]|GENE=MOV10L1

rs11704548

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144201G>A
NC_000022.10   g.50582630G>A
XM_005261923.4   c.2403G>A
XM_005261923.1   c.2403G>A
NM_018995.3   c.2463G>A
NM_018995.2   c.2463G>A
XM_011530700.2   c.2307G>A
XR_002958704.1   n.2546G>A
XM_011530697.1   c.2403G>A
XM_011530696.1   c.2463G>A
XM  

rs2272840

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149724G>A
NC_000022.11   g.50149724G>T
NC_000022.10   g.50588153G>A
NC_000022.10   g.50588153G>T|SEQ=[G/A/T]|GENE=MOV10L1

rs2272837

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144197A>C
NC_000022.11   g.50144197A>G
NC_000022.10   g.50582626A>C
NC_000022.10   g.50582626A>G
XM_005261923.4   c.2399A>C
XM_005261923.4   c.2399A>G
XM_005261923.1   c.2399A>C
XM_005261923.1   c.2399A>G
NM_018995.3   c.2459A>C
NM_018995.3   c.2459A>

rs2272836

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144121C>A
NC_000022.11   g.50144121C>T
NC_000022.10   g.50582550C>A
NC_000022.10   g.50582550C>T
XM_005261923.4   c.2323C>A
XM_005261923.4   c.2323C>T
XM_005261923.1   c.2323C>A
XM_005261923.1   c.2323C>T
NM_018995.3   c.2383C>A
NM_018995.3   c.2383C>

rs138271

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149702C>T
NC_000022.10   g.50588131C>T
XM_005261923.4   c.2655C>T
XM_005261923.1   c.2655C>T
NM_018995.3   c.2715C>T
NM_018995.2   c.2715C>T
XM_011530700.2   c.2559C>T
XM_011530697.1   c.2655C>T
XM_011530696.1   c.2715C>T
XM_011530699.1   c.2559C>T
XM  

rs2272838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50145772A>C
NC_000022.10   g.50584201A>C
XM_005261923.4   c.2529A>C
XM_005261923.1   c.2529A>C
NM_018995.3   c.2589A>C
NM_018995.2   c.2589A>C
XM_011530700.2   c.2433A>C
XR_002958704.1   n.2672A>C
XM_011530697.1   c.2529A>C
XM_011530696.1   c.2589A>C
XM  

rs17248147

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

Protein Summary

• Protein general information: Q9BXT6  
  • Name: RNA helicase Mov10l1 (EC 3.6.4.13) (Moloney leukemia virus 10 like protein 1) (MOV10 like protein 1)
  • Length: 1211  
  • Mass: 135,293
• Sequence:

  MLSLAAKLVAFFWRTADTPREEAGQLEPELAEGDTKLKTVRGVVTRYCSDYGMIDDMIYFSSDAVTSRVLLNVGQ
  EVIAVVEENKVSNGLKAIRVEAVSDKWEDDSRNHGSPSDCGPRVLIGCVTSLVEGAGCISQTTYFSLESVCEGFE
  PCKGDWVEAEYRIRPGTWSSEATSVKPLRYKRVDKVCISSLCGRNGVLEESIFFTLDSLKLPDGYTPRRGDVVNA
  VVVESSQSCYVWRALCMTLVKRRDAAPVHEATHFYGTILLKNKGDIEVTQVTHFGTLKEGRSKTMVIWIENKGDI
  PQNLVSCKLAGWDKSKQFRFQMLDKDQMCPVVSFVSVPEKENSSDENINSLNSHTKNKTSQMSESSLVNNRGISP
  GDCTCKGENGEKDNILSRKQMTEPEPGGLVPPGGKTFIVVICDGKNPGRCKELLLLCFSDFLIGRYLEVNVISGE
  ESLIAAREPFSWKKLKSSQALTSAKTTVVVTAQKRNSRRQLPSFLPQYPIPDRLRKCVEQKIDILTFQPLLAELL
  NMSNYKEKFSTLLWLEEIYAEMELKEYNMSGIILRRNGDLLVLEVPGLAEGRPSLYAGDKLILKTQEYNGHAIEY
  ISYVTEIHEEDVTLKINPEFEQAYNFEPMDVEFTYNRTTSRRCHFALEHVIHLGVKVLFPEEIILQSPQVTGNWN
  HAQDTKSSGQSTSKKNRKTMTDQAEHGTEERRVGDKDLPVLAPFTAEMSDWVDEIQTPKARKMEFFNPVLNENQK
  LAVKRILSGDCRPLPYILFGPPGTGKTVTIIEAVLQVHFALPDSRILVCAPSNSAADLVCLRLHESKVLQPATMV
  RVNATCRFEEIVIDAVKPYCRDGEDIWKASRFRIIITTCSSSGLFYQIGVRVGHFTHVFVDEAGQASEPECLIPL
  GLMSDISGQIVLAGDPMQLGPVIKSRLAMAYGLNVSFLERLMSRPAYQRDENAFGACGAHNPLLVTKLVKNYRSH
  EALLMLPSRLFYHRELEVCADPTVVTSLLGWEKLPKKGFPLIFHGVRGSEAREGKSPSWFNPAEAVQVLRYCCLL
  AHSISSQVSASDIGVITPYRKQVEKIRILLRNVDLMDIKVGSVEEFQGQEYLVIIISTVRSNEDRFEDDRYFLGF
  LSNSKRFNVAITRPKALLIVLGNPHVLVRDPCFGALLEYSITNGVYMGCDLPPALQSLQNCGEGVADPSYPVVPE
  STGPEKHQEPS

• Structural information:
  • Interpro: IPR027417  
  • STRING: ENSP00000262794
• Other Databases: GeneCards:  MOV10L1  Malacards:  MOV10L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	TAS	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	ISS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	NAS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005622	intracellular	IC	cellular component
GO:0007141	male meiosis I	ISS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007281	germ cell development	IEP	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEP	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0071546	pi-body	ISS	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	TAS	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	ISS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	NAS	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005622	intracellular	IC	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007141	male meiosis I	ISS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007281	germ cell development	IEP	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0071546	pi-body	ISS	cellular component
GO:0000287	magnesium ion binding	TAS	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	ISS	molecular function
GO:0004004	ATP-dependent RNA helicase activity	NAS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005622	intracellular	IC	cellular component
GO:0007141	male meiosis I	ISS	biological process
GO:0007281	germ cell development	IEP	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEP	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0071546	pi-body	ISS	cellular component

Diseases

Associated diseases	References
Azoospermia	MIK: 24817005
Complete maturation arrest	MIK: 24817005
Cryptorchidism	MIK: 22223142
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 24817005
Complete maturation arrest	MIK: 24817005
Cryptorchidism	MIK: 22223142
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24817005	Azoospermia, complete maturation arrest	one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions		100 (30 infertile men that had complete maturation arrest in their spermatocyte levels, 70 fertile men as the control group)	Male infertility
22223142	Cryptorchidism			22 (18 cryptorchid, 4 control testes)	Male infertility	MOV10L1
20547853	Plays a crucial role in male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R