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

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

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

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
MIRT662197	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT662196	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT662195	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT662194	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT662193	hsa-miR-612	HITS-CLIP	23824327
MIRT662192	hsa-miR-6860	HITS-CLIP	23824327
MIRT662191	hsa-miR-4486	HITS-CLIP	23824327
MIRT662190	hsa-miR-378g	HITS-CLIP	23824327
MIRT662189	hsa-miR-2861	HITS-CLIP	23824327
MIRT662188	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT662187	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT662186	hsa-miR-4314	HITS-CLIP	23824327
MIRT662185	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT662184	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT662183	hsa-miR-6833-3p	HITS-CLIP	23824327
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
MIRT662197	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT662196	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT662195	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT662194	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT662193	hsa-miR-612	HITS-CLIP	23824327
MIRT662192	hsa-miR-6860	HITS-CLIP	23824327
MIRT662191	hsa-miR-4486	HITS-CLIP	23824327
MIRT662190	hsa-miR-378g	HITS-CLIP	23824327
MIRT662189	hsa-miR-2861	HITS-CLIP	23824327
MIRT662188	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT662187	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT662186	hsa-miR-4314	HITS-CLIP	23824327
MIRT662185	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT662184	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT662183	hsa-miR-6833-3p	HITS-CLIP	23824327

Show/Hide all (2)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007127	Process	Meiosis I	IBA
GO:0051321	Process	Meiotic cell cycle	IEA

MIM	HGNC	e!Ensembl
608797	28613	ENSG00000167077

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

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hydatidiform mole, recurrent, 3	Likely pathogenic; Pathogenic	rs75338000, rs749779829, rs1569203272, rs759915989	RCV003149079 RCV000770966 RCV000770967 RCV000770968	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEI1-related disorder	Likely pathogenic	rs75338000	RCV003936713	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE HYDATIDIFORM MOLE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	BEFREE	16683055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35413094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	ORPHANET_DG	30388401		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydatidiform Mole	Hydatidiform mole	Pubtator	34608573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	29659827		★★★★★ ★☆☆☆☆ Found in Text Mining only

MEI1 (meiotic double-stranded break formation protein 1)