MEI1 (meiotic double-stranded break formation protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 150365
Gene name Meiotic double-stranded break formation protein 1
Gene symbol MEI1
Synonyms (NCBI Gene)
HYDM3SPATA38
Chromosome 22
Chromosome location 22q13.2
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs749779829 G>A Likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs759915989 G>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs1569203272 G>A Pathogenic Genic upstream transcript variant, upstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
40
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (40)
miRTarBase ID miRNA Experiments Reference
MIRT662202 hsa-miR-6758-3p HITS-CLIP 23824327
MIRT662201 hsa-miR-766-3p HITS-CLIP 23824327
MIRT662200 hsa-miR-3925-3p HITS-CLIP 23824327
MIRT662199 hsa-miR-6845-3p HITS-CLIP 23824327
MIRT662198 hsa-miR-7110-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0007127 Process Meiosis I IBA
GO:0051321 Process Meiotic cell cycle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608797 28613 ENSG00000167077
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TIA1
Protein name Meiosis inhibitor protein 1 (Meiosis defective protein 1)
Protein function Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in testis. Weakly expressed in spleen and thymus. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401). {ECO:0000269|PubMed:16683055, ECO:0000269|PubMed:30388401}.
Sequence 
MAVRQAATAGTPGPRREEEAALLFERAHYRHDPRWLLPVTPRLCLACALELLPDPGVSLV
RKKHMLSCFQDALVRHTSLVTQLVSQDQRVCIHFISVLFGLLCSMEDGSVTDLCIEVLIQ
ITTQLKLEQTIRCLLDECHKELCNMPSMRGSLATLTLLGKLVDAIPALADELVMEHGNLM
EHLLRGLVYPSEGIQASVCYLYGKLYSSPVAAEMLSGHFREKLFPLFLSILDGAQTKELQ
INCLGLLRQLLKYDLFVSMIMNQDGLGESAKNIEGSSGNTSLPLVLKKLLLSRDETLQVA
SAHCITAVLVHSPAKHASAFIHADIPEFLFEHLSSSSEVLVWSSCNCLTLLVEEPLFFSK
CHTVYGIEAVVRSLQGSLKMNNIELHKQGLLLFAEILTRQPEEIKLFTSSAMCRDAGRAL
QEAVSSPVLEVAAEALKATSAFLRKDHQSTPPVQYGELQALLEAMLNRCAEFSQTLLSRR
PLGHASSRDSEKAILQRGKFLLSTLEGFRSACRLAIEFQSEPSAQENPFTAPSAKKEDTL
EAFSEFLLSACDSLCIPMVMRHLEQTTHPALMEVFLSILHNLFVIVPHMKEKFSKKLASS
SFIRLTLELKARFCSGLSHSALNQVCSNFLYYMCLNLLSAPEKTGPPSKEELSAVSELLQ
HGLPQISSRSPESLAFLSDRQYMEGAARQRQYCILLLFYLAYIHEDRFVSEAELFEAVQS
FLLSLQDQGERPPLVVFKASIYLLAICQDKDNTLRETMVSAIRKFLEGIPDLQLVYTHHP
LLLRFFLLYPELMSRYGHRVLELWFFWEESSYEELDDVTSAGQPALPASLVVLFQLLRSI
PSILLILLDLIYSSPVDTAHKVLISLRTFLRRNEDIQVGGLIRGHFLLILQRLLVEHGAS
PSGASGNLPLLLSLLSLMQLRNVSEQELDSVAMKLLHQVSKLCGKCSPTDVDILQPSFNF
LYWSLHQTTPSSQKRAAAVLLSSTGLMELLEKMLALTLAKADSPRTALLCSAWLLTASFS
AQQHKGSLQVHQTLSVEMDQVLKALSFPKKKAALLSAAILCFLRTALRQSFSSALVALVP
SGAQPLPATKDTVLAPLRMSQVRSLVIGLQNLLVQKDPLLSQACVGCLEALLDYLDARSP
DIALHVASQPWNRFLLFTLLDAGENSFLRPEILRLMTLFMRYRSSSVLSHEEVGDVLQGV
ALADLSTLSNTTLQALHGFFQQLQSMGHLADHSMAQTLQASLEGLPPSTSSGQPPLQDML
CLGGVAVSLSHIRN
Sequence length 1274
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
49
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hydatidiform mole, recurrent, 3 Likely pathogenic; Pathogenic rs75338000, rs749779829, rs1569203272, rs759915989 RCV003149079
RCV000770966
RCV000770967
RCV000770968
MEI1-related disorder Likely pathogenic rs75338000 RCV003936713
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs113484758 RCV005871365
Colorectal cancer Benign rs113484758 RCV005871368
Malignant lymphoma, large B-cell, diffuse Benign rs113484758 RCV005871367
Malignant tumor of esophagus Benign; Likely benign rs113484758, rs12484839 RCV005871366
RCV005933441
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrest of spermatogenesis Associate 35413094
Azoospermia Associate 35413094
Azoospermia Nonobstructive Associate 36017582
Hydatidiform Mole Associate 34608573