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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs367878826	RCV001797570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility	Likely pathogenic	rs2063008265	RCV004573384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs1479684172, rs2147023849	RCV002283560 RCV002283562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 73	Likely pathogenic; Pathogenic	rs1479684172, rs2147023849	RCV002246546 RCV002246548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX REGIONAL PAIN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic heart failure	Heart Failure	BEFREE	29895587		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28625374, 29895587, 30025570, 31679641		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31848029		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	11048801		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28625374, 30025570, 31679641		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	10971696		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24817005	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	24817005	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	10616536		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	8827023		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8827023		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26094080		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31086955		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	9591630		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	10362810		★☆☆☆☆ Found in Text Mining only