Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	54456
Gene name	Mov10 like RNA helicase 1
Gene symbol	MOV10L1
Synonyms (NCBI Gene)	CHAMPDJ402G11.8SPGF73
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]

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

25 Show/Hide all (25)

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

MIM	HGNC	e!Ensembl
605794	7201	ENSG00000073146

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	853 → 926	AAA domain	Domain
PF13086	AAA_11	744 → 847	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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (9)
Cervical cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX REGIONAL PAIN SYNDROME	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	36266505	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	35476666	★★★★★ ★★☆☆☆ 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	30297969	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (15)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TERB1	4	["Azoospermia","Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Azoospermia)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
PNLDC1	4	["Male infertility","Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Male infertility)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
SHOC1	4	["Male infertility","Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Male infertility)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
ZMYND15	4	["Male infertility","Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Male infertility)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
TERB2	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]

MOV10L1 (Mov10 like RNA helicase 1)

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