Aliases for MEI1 Gene

Aliases for MEI1 Gene

  • Meiotic Double-Stranded Break Formation Protein 1 2 3 5
  • Spermatogenesis Associated 38 2 3
  • Meiosis Defective Protein 1 3 4
  • Meiosis Inhibitor Protein 1 3 4
  • Meiosis Inhibitor 1 2 3
  • Meiosis Defective 1 3
  • SPATA38 3
  • HYDM3 3

External Ids for MEI1 Gene

Previous GeneCards Identifiers for MEI1 Gene

  • GC22P040426
  • GC22P042095
  • GC22P025060

Summaries for MEI1 Gene

GeneCards Summary for MEI1 Gene

MEI1 (Meiotic Double-Stranded Break Formation Protein 1) is a Protein Coding gene. Diseases associated with MEI1 include Hydatidiform Mole, Recurrent, 3 and Hydatidiform Mole, Recurrent, 1. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is BCL2L11.

UniProtKB/Swiss-Prot Summary for MEI1 Gene

  • Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).

Additional gene information for MEI1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEI1 Gene

Genomics for MEI1 Gene

GeneHancer (GH) Regulatory Elements for MEI1 Gene

Promoters and enhancers for MEI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J041699 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 515.6 -0.1 -101 0.8 POLR2A IKZF1 RB1 NRF1 HDGF RNF2 ZBTB33 MAX AGO1 E2F4 MEI1 piR-37414 ENSG00000273424 WBP2NL
GH22J041779 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 535.1 +81.9 81942 3.6 ZBTB40 EP300 SP1 POLR2A NFYB ZNF341 TCF12 CBFB CREB3L1 GABPA MEI1 NDUFA6 SREBF2 SREBF2-AS1 RNU6ATAC22P XPNPEP3 CENPM piR-40995 lnc-SNU13-3
GH22J041700 Enhancer 0.3 FANTOM5 519 +1.0 1003 0.4 ZNF680 MEI1 CHADL WBP2NL RF00017-3858
GH22J041444 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.4 -253.0 -253049 6.5 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 TCF12 ACO2 TOB2 LOC105373043 lnc-ACO2-1 EP300 L3MBTL2 XRCC6 ZC3H7B PHF5A ENSG00000232754
GH22J041618 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.4 -78.8 -78812 4.2 HNRNPK EP300 SIN3A NRF1 USF1 POLR2G SP1 PHF8 ZFX ZNF10 DESI1 XRCC6 MEI1 EP300 POLDIP3 RRP7BP RN7SKP80 ENSG00000232754 L3MBTL2 ENSG00000270083
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEI1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEI1

Top Transcription factor binding sites by QIAGEN in the MEI1 gene promoter:
  • AML1a
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-2
  • GATA-3
  • PPAR-alpha
  • STAT1

Genomic Locations for MEI1 Gene

Genomic Locations for MEI1 Gene
chr22:41,699,501-41,799,456
(GRCh38/hg38)
Size:
99,956 bases
Orientation:
Plus strand
chr22:42,095,503-42,195,460
(GRCh37/hg19)
Size:
99,958 bases
Orientation:
Plus strand

Genomic View for MEI1 Gene

Genes around MEI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEI1 Gene

Proteins for MEI1 Gene

  • Protein details for MEI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TIA1-MEI1_HUMAN
    Recommended name:
    Meiosis inhibitor protein 1
    Protein Accession:
    Q5TIA1
    Secondary Accessions:
    • B7Z745
    • Q1XAP1
    • Q1XAP2
    • Q8IYJ5
    • Q8N5K5
    • Q8N9H3
    • Q8TC68

    Protein attributes for MEI1 Gene

    Size:
    1274 amino acids
    Molecular mass:
    141161 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH25400.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH35720.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MEI1 Gene

neXtProt entry for MEI1 Gene

Post-translational modifications for MEI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MEI1 Gene

Domains & Families for MEI1 Gene

Gene Families for MEI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MEI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MEI1 Gene

GenScript: Design optimal peptide antigens:
  • Meiosis inhibitor 1 (B0QY49_HUMAN)
  • Meiosis defective protein 1 (MEI1_HUMAN)
  • MEI1 protein (Q4G0I1_HUMAN)
genes like me logo Genes that share domains with MEI1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MEI1 Gene

Function for MEI1 Gene

Molecular function for MEI1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).

Phenotypes From GWAS Catalog for MEI1 Gene

genes like me logo Genes that share phenotypes with MEI1: view

Human Phenotype Ontology for MEI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEI1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MEI1 Gene

Localization for MEI1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEI1 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
extracellular 1
nucleus 1
cytosol 0

Gene Ontology (GO) - Cellular Components for MEI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with MEI1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MEI1 Gene

Pathways & Interactions for MEI1 Gene

PathCards logo

SuperPathways for MEI1 Gene

No Data Available

Interacting Proteins for MEI1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000384115 Q5TIA1-MEI1_HUMAN for MEI1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for MEI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007141 male meiosis I IEA --
GO:0007276 gamete generation IEA --
GO:0007286 spermatid development IEA --
GO:0045141 meiotic telomere clustering IEA --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with MEI1: view

No data available for Pathways by source and SIGNOR curated interactions for MEI1 Gene

Drugs & Compounds for MEI1 Gene

No Compound Related Data Available

Transcripts for MEI1 Gene

mRNA/cDNA for MEI1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEI1

Alternative Splicing Database (ASD) splice patterns (SP) for MEI1 Gene

No ASD Table

Relevant External Links for MEI1 Gene

GeneLoc Exon Structure for
MEI1

Expression for MEI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEI1 Gene

mRNA differential expression in normal tissues according to GTEx for MEI1 Gene

This gene is overexpressed in Testis (x14.5), Whole Blood (x7.5), and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for MEI1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MEI1 Gene



Protein tissue co-expression partners for MEI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEI1

SOURCE GeneReport for Unigene cluster for MEI1 Gene:

Hs.116419

mRNA Expression by UniProt/SwissProt for MEI1 Gene:

Q5TIA1-MEI1_HUMAN
Tissue specificity: Expressed predominantly in testis. Weakly expressed in spleen and thymus. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401).
genes like me logo Genes that share expression patterns with MEI1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEI1 Gene

Orthologs for MEI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MEI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEI1 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MEI1 31 30
  • 88.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MEI1 31 30
  • 86.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mei1 30
  • 83.73 (n)
mouse
(Mus musculus)
Mammalia Mei1 17 31 30
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MEI1 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEI1 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEI1 31 30
  • 62.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mei1 30
  • 56.32 (n)
zebrafish
(Danio rerio)
Actinopterygii MEI1 31
  • 35 (a)
OneToOne
Species where no ortholog for MEI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEI1 Gene

ENSEMBL:
Gene Tree for MEI1 (if available)
TreeFam:
Gene Tree for MEI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEI1: view image

Paralogs for MEI1 Gene

Paralogs for MEI1 Gene

genes like me logo Genes that share paralogs with MEI1: view

Variants for MEI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEI1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
730637 Likely Benign: not provided 41,795,817(+) C/T MISSENSE_VARIANT
743001 Benign: not provided 41,714,045(+) C/T SYNONYMOUS_VARIANT
749257 Likely Benign: not provided 41,781,818(+) T/C SYNONYMOUS_VARIANT
778952 Benign: not provided 41,699,599(+) G/A MISSENSE_VARIANT
778953 Benign: not provided 41,732,339(+) G/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MEI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MEI1 Gene

Variant ID Type Subtype PubMed ID
dgv110n6 CNV deletion 16902084
dgv2462n106 CNV deletion 24896259
dgv8111n54 CNV gain 21841781
esv1676083 CNV deletion 17803354
esv2134270 CNV deletion 18987734
esv2439659 CNV deletion 19546169
esv2451668 CNV deletion 19546169
esv2724269 CNV deletion 23290073
esv3414777 CNV insertion 20981092
esv3558182 CNV deletion 23714750
esv3647802 CNV loss 21293372
esv3963 CNV loss 18987735
esv8122 CNV loss 19470904
nsv1062939 CNV gain 25217958
nsv1067233 CNV gain 25217958
nsv1072213 CNV deletion 25765185
nsv1153215 CNV deletion 26484159
nsv3640 CNV insertion 18451855
nsv524585 CNV loss 19592680
nsv834209 CNV loss 17160897
nsv955486 CNV deletion 24416366
nsv979682 CNV duplication 23825009

Variation tolerance for MEI1 Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.01; 80.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEI1 Gene

Human Gene Mutation Database (HGMD)
MEI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEI1 Gene

Disorders for MEI1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MEI1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MEI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEI1_HUMAN
  • Hydatidiform mole, recurrent, 3 (HYDM3) [MIM:618431]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269 PubMed:30388401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Susceptibility to azoospermia may be associated with MEI1 variations. {ECO:0000269 PubMed:16683055, ECO:0000269 PubMed:28718531}.

Additional Disease Information for MEI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MEI1: view

No data available for Genatlas for MEI1 Gene

Publications for MEI1 Gene

  1. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. (PMID: 16683055) Sato H … Sengoku K (Journal of human genetics 2006) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Initiation of meiotic recombination in mammals. (PMID: 24710101) Kumar R … De Massy B (Genes 2010) 2 3 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. (PMID: 30388401) Nguyen NMP … Slim R (American journal of human genetics 2018) 4 54

Products for MEI1 Gene

Sources for MEI1 Gene