• Gene id: 84944

Gene Summary

• Gene Symbol: MAEL   Gene   UCSC   Ensembl
• Aliases: CT128, SPATA35
• Gene name: maelstrom spermatogenic transposon silencer
• Alternate names: protein maelstrom homolog, cancer/testis antigen 128, maelstrom homolog, spermatogenesis associated 35, testicular tissue protein Li 116,
• Gene location: 1q24.1 (166921120: 167022213)     Exons: 17     NC_000001.11
• OMIM: 611368

Protein Summary

• Protein general information: Q96JY0  
  • Name: Protein maelstrom homolog
  • Length: 434  
  • Mass: 49,219
• Sequence:

  MPNRKASRNAYYFFVQEKIPELRRRGLPVARVADAIPYCSSDWALLREEEKEKYAEMAREWRAAQGKDPGPSEKQ
  KPVFTPLRRPGMLVPKQNVSPPDMSALSLKGDQALLGGIFYFLNIFSHGELPPHCEQRFLPCEIGCVKYSLQEGI
  MADFHSFINPGEIPRGFRFHCQAASDSSHKIPISNFERGHNQATVLQNLYRFIHPNPGNWPPIYCKSDDRTRVNW
  CLKHMAKASEIRQDLQLLTVEDLVVGIYQQKFLKEPSKTWIRSLLDVAMWDYSSNTRCKWHEENDILFCALAVCK
  KIAYCISNSLATLFGIQLTEAHVPLQDYEASNSVTPKMVVLDAGRYQKLRVGSSGFSHFNSSNEEQRSNTPIGDY
  PSRAKISGQNSSVRGRGITRLLESISNSSSNIHKFSNCDTSLSPYMSQKDGYKSFSSLS

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR024970  
  • PDB: 2CTO
  • PDBsum: 2CTO
  • STRING: ENSP00000356846
• Other Databases: GeneCards:  MAEL  Malacards:  MAEL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001741	XY body	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007129	synapsis	IEA	biological process
GO:0007140	male meiosis	IBA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IBA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030849	autosome	IEA	cellular component
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0034587	piRNA metabolic process	IBA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043186	P granule	ISS	cellular component
GO:0043186	P granule	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0071547	piP-body	ISS	cellular component
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001741	XY body	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0007140	male meiosis	IBA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IBA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030849	autosome	IEA	cellular component
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0034587	piRNA metabolic process	IBA	biological process
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043186	P granule	IEA	cellular component
GO:0043186	P granule	ISS	cellular component
GO:0043186	P granule	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0071547	piP-body	IEA	cellular component
GO:0071547	piP-body	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007140	male meiosis	IBA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IBA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0034587	piRNA metabolic process	IBA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0043186	P granule	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0071547	piP-body	ISS	cellular component

Diseases

Associated diseases	References
Hypertension	GAD: 19536175
Hypertension	GAD: 19536175
Osteoporosis	GAD: 19064610
Cryptorchidism	MIK: 22223142
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 22223142
Nonobstructive azoospermia	MIK: 28342926
Hypospermatogenesis	MIK: 28342926
Male infertility	MIK: 29095993
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22223142	Cryptorchidism			22 (18 cryptorchid, 4 control testes)	Male infertility	MAEL
29095993	Spermatogenetic failure, Male infertility	Hypermethylation of a specific region (-131 to +177)		38 (26 NOA and HS, 12 with obstructive azoospermia and normal spermatogenesis)	Male infertility
28342926	Nonobstructive azoospermia and hypospermatogenesis			100 patients with nonobstructive azoospermia and HS and 8 patients with obstructive azoospermia and normal spermatogenesis	Male infertility	NGS (CpG methylation)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray