• Gene id: 150365

Gene Summary

• Gene Symbol: MEI1   Gene   UCSC   Ensembl
• Aliases: SPATA38
• Gene name: meiotic double-stranded break formation protein 1
• Alternate names: meiosis inhibitor protein 1, meiosis defective 1, meiosis defective protein 1, meiosis inhibitor 1, spermatogenesis associated 38,
• Gene location: 22q13.2 (41699502: 41799476)     Exons: 34     NC_000022.11
• OMIM: 608797

Protein Summary

• Protein general information: Q5TIA1  
  • Name: Meiosis inhibitor protein 1 (Meiosis defective protein 1)
  • Length: 1274  
  • Mass: 141,161
• Sequence:

  MAVRQAATAGTPGPRREEEAALLFERAHYRHDPRWLLPVTPRLCLACALELLPDPGVSLVRKKHMLSCFQDALVR
  HTSLVTQLVSQDQRVCIHFISVLFGLLCSMEDGSVTDLCIEVLIQITTQLKLEQTIRCLLDECHKELCNMPSMRG
  SLATLTLLGKLVDAIPALADELVMEHGNLMEHLLRGLVYPSEGIQASVCYLYGKLYSSPVAAEMLSGHFREKLFP
  LFLSILDGAQTKELQINCLGLLRQLLKYDLFVSMIMNQDGLGESAKNIEGSSGNTSLPLVLKKLLLSRDETLQVA
  SAHCITAVLVHSPAKHASAFIHADIPEFLFEHLSSSSEVLVWSSCNCLTLLVEEPLFFSKCHTVYGIEAVVRSLQ
  GSLKMNNIELHKQGLLLFAEILTRQPEEIKLFTSSAMCRDAGRALQEAVSSPVLEVAAEALKATSAFLRKDHQST
  PPVQYGELQALLEAMLNRCAEFSQTLLSRRPLGHASSRDSEKAILQRGKFLLSTLEGFRSACRLAIEFQSEPSAQ
  ENPFTAPSAKKEDTLEAFSEFLLSACDSLCIPMVMRHLEQTTHPALMEVFLSILHNLFVIVPHMKEKFSKKLASS
  SFIRLTLELKARFCSGLSHSALNQVCSNFLYYMCLNLLSAPEKTGPPSKEELSAVSELLQHGLPQISSRSPESLA
  FLSDRQYMEGAARQRQYCILLLFYLAYIHEDRFVSEAELFEAVQSFLLSLQDQGERPPLVVFKASIYLLAICQDK
  DNTLRETMVSAIRKFLEGIPDLQLVYTHHPLLLRFFLLYPELMSRYGHRVLELWFFWEESSYEELDDVTSAGQPA
  LPASLVVLFQLLRSIPSILLILLDLIYSSPVDTAHKVLISLRTFLRRNEDIQVGGLIRGHFLLILQRLLVEHGAS
  PSGASGNLPLLLSLLSLMQLRNVSEQELDSVAMKLLHQVSKLCGKCSPTDVDILQPSFNFLYWSLHQTTPSSQKR
  AAAVLLSSTGLMELLEKMLALTLAKADSPRTALLCSAWLLTASFSAQQHKGSLQVHQTLSVEMDQVLKALSFPKK
  KAALLSAAILCFLRTALRQSFSSALVALVPSGAQPLPATKDTVLAPLRMSQVRSLVIGLQNLLVQKDPLLSQACV
  GCLEALLDYLDARSPDIALHVASQPWNRFLLFTLLDAGENSFLRPEILRLMTLFMRYRSSSVLSHEEVGDVLQGV
  ALADLSTLSNTTLQALHGFFQQLQSMGHLADHSMAQTLQASLEGLPPSTSSGQPPLQDMLCLGGVAVSLSHIRN

• Structural information:
  • Interpro: IPR011989  IPR016024  
  • STRING: ENSP00000384115
• Other Databases: GeneCards:  MEI1  Malacards:  MEI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005623	cell	IEA	cellular component
GO:0007127	meiosis I	IBA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0005623	cell	IEA	cellular component
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007127	meiosis I	IBA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007276	gamete generation	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0007127	meiosis I	IBA	biological process

Diseases

Associated diseases	References
Azoospermia	MIK: 16683055
Azoospermia	MIK: 16683055
Cryptorchidism	MIK: 28606200
Meiotic arrest	MIK: 29659827
Non-obstructive azoospermia	MIK: 28718531

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16683055	Azoospermia	SNP1 (T909G), SNP2 (A1582G), SNP3 (C1791A) and SNP4 (C2397T)		27 (13 European Americans, 13 Israeli and 1 Japanese)	Male infertility
28718531	Non-obstructive azoospermia	c.C1223G, p.(Thr408Arg)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
29659827	Meiotic arrest	c.C3307T:p.R1103W		1 case	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq