MOV10L1 (Mov10 like RNA helicase 1)

Gene

• Entrez ID: 54456
• Gene name: Mov10 like RNA helicase 1
• Gene symbol: MOV10L1
• Synonyms (NCBI Gene): CHAMP, DJ402G11.8, SPGF73
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018957	hsa-miR-335-5p	Microarray	18185580
MIRT037994	hsa-miR-500a-5p	CLASH	23622248
MIRT2044566	hsa-miR-3127-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	TAS	11839499
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	TAS	11839499
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	ISS
GO:0003724	Function	RNA helicase activity	NAS	11279525
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	11839499
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0007141	Process	Male meiosis I	ISS
GO:0007281	Process	Germ cell development	IEP	11279525
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEP	11279525
GO:0007283	Process	Spermatogenesis	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0035194	Process	Regulatory ncRNA-mediated post-transcriptional gene silencing	IBA
GO:0043186	Component	P granule	IBA
GO:0043186	Component	P granule	ISS
GO:0071546	Component	Pi-body	ISS
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	ISS

Other IDs

• MIM: 605794
• HGNC: 7201
• e!Ensembl: ENSG00000073146

Protein

• UniProt ID: Q9BXT6
• Protein name: RNA helicase Mov10l1 (EC 3.6.4.13) (Moloney leukemia virus 10-like protein 1) (MOV10-like protein 1)
• Protein function: ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transpo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13086	AAA_11	744 → 847	AAA domain	Domain
  PF13086	AAA_11	853 → 926	AAA domain	Domain
  PF13087	AAA_12	933 → 1150	AAA domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Specifically expressed in testis. {ECO:0000269|PubMed:11279525}.
• Sequence:

  MLSLAAKLVAFFWRTADTPREEAGQLEPELAEGDTKLKTVRGVVTRYCSDYGMIDDMIYF
  SSDAVTSRVLLNVGQEVIAVVEENKVSNGLKAIRVEAVSDKWEDDSRNHGSPSDCGPRVL
  IGCVTSLVEGAGCISQTTYFSLESVCEGFEPCKGDWVEAEYRIRPGTWSSEATSVKPLRY
  KRVDKVCISSLCGRNGVLEESIFFTLDSLKLPDGYTPRRGDVVNAVVVESSQSCYVWRAL
  CMTLVKRRDAAPVHEATHFYGTILLKNKGDIEVTQVTHFGTLKEGRSKTMVIWIENKGDI
  PQNLVSCKLAGWDKSKQFRFQMLDKDQMCPVVSFVSVPEKENSSDENINSLNSHTKNKTS
  QMSESSLVNNRGISPGDCTCKGENGEKDNILSRKQMTEPEPGGLVPPGGKTFIVVICDGK
  NPGRCKELLLLCFSDFLIGRYLEVNVISGEESLIAAREPFSWKKLKSSQALTSAKTTVVV
  TAQKRNSRRQLPSFLPQYPIPDRLRKCVEQKIDILTFQPLLAELLNMSNYKEKFSTLLWL
  EEIYAEMELKEYNMSGIILRRNGDLLVLEVPGLAEGRPSLYAGDKLILKTQEYNGHAIEY
  ISYVTEIHEEDVTLKINPEFEQAYNFEPMDVEFTYNRTTSRRCHFALEHVIHLGVKVLFP
  EEIILQSPQVTGNWNHAQDTKSSGQSTSKKNRKTMTDQAEHGTEERRVGDKDLPVLAPFT
  AEMSDWVDEIQTPKARKMEFFNPVLNENQKLAVKRILSGDCRPLPYILFGPPGTGKTVTI
  IEAVLQVHFALPDSRILVCAPSNSAADLVCLRLHESKVLQPATMVRVNATCRFEEIVIDA
  VKPYCRDGEDIWKASRFRIIITTCSSSGLFYQIGVRVGHFTHVFVDEAGQASEPECLIPL
  GLMSDISGQIVLAGDPMQLGPVIKSRLAMAYGLNVSFLERLMSRPAYQRDENAFGACGAH
  NPLLVTKLVKNYRSHEALLMLPSRLFYHRELEVCADPTVVTSLLGWEKLPKKGFPLIFHG
  VRGSEAREGKSPSWFNPAEAVQVLRYCCLLAHSISSQVSASDIGVITPYRKQVEKIRILL
  RNVDLMDIKVGSVEEFQGQEYLVIIISTVRSNEDRFEDDRYFLGFLSNSKRFNVAITRPK
  ALLIVLGNPHVLVRDPCFGALLEYSITNGVYMGCDLPPALQSLQNCGEGVADPSYPVVPE
  STGPEKHQEPS

• Sequence length: 1211

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Azoospermia	Pathogenic	rs367878826	RCV001797570
Male infertility	Likely pathogenic	rs2063008265	RCV004573384
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs1479684172, rs2147023849	RCV002283560 RCV002283562
Spermatogenic failure 73	Likely pathogenic; Pathogenic	rs1479684172, rs2147023849	RCV002246546 RCV002246548

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Uncertain significance	rs150821412	RCV005939356
Thymoma	Uncertain significance	rs150821412	RCV005939357
Uterine carcinosarcoma	Benign	rs3810971	RCV005919677
Uveal melanoma	Benign	rs3810971	RCV005919676

Associations from Text Mining
Disease Name	Relationship Type	References
Arrest of spermatogenesis	Associate	35413094
Infertility	Associate	24817005
Infertility Male	Associate	24817005