Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84944
Gene name	Maelstrom spermatogenic transposon silencer
Gene symbol	MAEL
Synonyms (NCBI Gene)	CT128SPATA35
Chromosome	1
Chromosome location	1q24.1

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2265818	hsa-miR-485-3p	CLIP-seq
MIRT2265819	hsa-miR-487a	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001741	Component	XY body	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007140	Process	Male meiotic nuclear division	IBA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009566	Process	Fertilization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030849	Component	Autosome	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	ISS
GO:0033391	Component	Chromatoid body	IEA
GO:0034587	Process	PiRNA processing	IBA
GO:0034587	Process	PiRNA processing	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043186	Component	P granule	IBA
GO:0043186	Component	P granule	IEA
GO:0043186	Component	P granule	ISS
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046620	Process	Regulation of organ growth	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0060964	Process	Regulation of miRNA-mediated gene silencing	IEA
GO:0071547	Component	PiP-body	IEA
GO:0071547	Component	PiP-body	ISS
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:2000242	Process	Negative regulation of reproductive process	IEA

MIM	HGNC	e!Ensembl
611368	25929	ENSG00000143194

Q96JY0

Protein name

Protein maelstrom homolog

Protein function

Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable

PDB

2CTO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09011	HMG_box_2	2 → 73	HMG-box domain	Domain
PF13017	Maelstrom	129 → 328	piRNA pathway germ-plasm component	Family

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter. {ECO:0000269|PubMed:19693694, ECO:0000269|Ref.1}.

Sequence

MPNRKASRNAYYFFVQEKIPELRRRGLPVARVADAIPYCSSDWALLREEEKEKYAEMARE
WRAAQGKDPGPSEKQKPVFTPLRRPGMLVPKQNVSPPDMSALSLKGDQALLGGIFYFLNI
FSHGELPPHCEQRFLPCEIGCVKYSLQEGIMADFHSFINPGEIPRGFRFHCQAASDSSHK
IPISNFERGHNQATVLQNLYRFIHPNPGNWPPIYCKSDDRTRVNWCLKHMAKASEIRQDL
QLLTVEDLVVGIYQQKFLKEPSKTWIRSLLDVAMWDYSSNTRCKWHEENDILFCALAVCK
KIAYCISNSLATLFGIQLTEAHVPLQDYEASNSVTPKMVVLDAGRYQKLRVGSSGFSHFN
SSNEEQRSNTPIGDYPSRAKISGQNSSVRGRGITRLLESISNSSSNIHKFSNCDTSLSPY
MSQKDGYKSFSSLS

Sequence length

434

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility	Likely pathogenic	rs898422350, rs757249676	RCV004573382 RCV004573383	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	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.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	27597120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34707800, 36866961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27926513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24932571, 35513870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27537253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21298349, 27537253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21298349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33902648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27597120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29371914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24189637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27537253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27597120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	28342926, 29095993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29371914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36866961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24742017		★★★★★ ★☆☆☆☆ Found in Text Mining only

MAEL (maelstrom spermatogenic transposon silencer)