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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 1 2 3
  • Meiosis Inhibitor Protein 1 3
  • Meiosis Defective 1 3
  • SPATA38 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 Aggressive Systemic Mastocytosis. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 1.5 EPDnew FANTOM5 Ensembl ENCODE 670.6 +0.3 342 1.7 HDGF ZNF687 ZNF680 POLR2A RB1 IKZF1 MAX ZBTB33 MEI1 PIR60459 CHADL WBP2NL ENSG00000273424 GC22M043017
GH22J041779 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 685.1 +81.9 81944 3.6 PKNOX1 ATF1 E4F1 ZKSCAN1 POLR2A ZNF207 ATF7 RUNX3 CREM ZBTB20 MEI1 GC22M043044 NDUFA6 ENSG00000184068 SREBF2 RNU6ATAC22P XPNPEP3 CENPM PIR33994
GH22J041443 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.4 -252.8 -252783 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ACO2 TOB2 LOC105373043 L3MBTL2 EP300 PHF5A ZC3H7B SLC25A17 XRCC6 ENSG00000232754
GH22J041618 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.4 -78.9 -78884 4.1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B DESI1 XRCC6 MEI1 RRP7BP L3MBTL2 PMM1 ENSG00000235513 CSDC2 GC22M042997
GH22J041587 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.5 -110.5 -110479 3.5 HDGF FOXA2 ARID4B SIN3A ZNF2 YY1 POLR2B E2F8 ZNF207 SP3 PMM1 MEI1 DESI1 RRP7BP CYP2D8P SLC25A17 L3MBTL2 ENSG00000235513 GC22M043024
- 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

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

Genomic Locations for MEI1 Gene

Genomic Locations for MEI1 Gene
chr22:41,699,499-41,799,456
(GRCh38/hg38)
Size:
99,958 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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

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 for MEI1 Gene

Pathways & Interactions for MEI1 Gene

No Data Available

Interacting Proteins for MEI1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000384115%0d%0a9606.ENSP00000250495%0d%0a
Selected Interacting proteins: Q5TIA1-MEI1_HUMAN ENSP00000384115 for MEI1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for MEI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007127 meiosis I IBA --
GO:0007141 male meiosis I IEA --
GO:0007276 gamete generation IEA --
GO:0007286 spermatid development IEA --
GO:0045141 meiotic telomere clustering 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

(23) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEI1 Gene

Meiosis inhibitor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for MEI1 Gene

GeneLoc Exon Structure for
MEI1
ECgene alternative splicing isoforms for
MEI1

Expression for MEI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MEI1 Gene:

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.
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 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MEI1 34 33
  • 88.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MEI1 34 33
  • 86.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mei1 33
  • 83.73 (n)
mouse
(Mus musculus)
Mammalia Mei1 16 34 33
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MEI1 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEI1 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEI1 34 33
  • 62.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mei1 33
  • 56.32 (n)
zebrafish
(Danio rerio)
Actinopterygii MEI1 34
  • 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

No data available for Paralogs for MEI1 Gene

Variants for MEI1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MEI1 Gene

MEI1_HUMAN-Q5TIA1
Genetic variation in MEI1 may predispose European American but not Israeli men to azoospermia by meiotic arrest.

Sequence variations from dbSNP and Humsavar for MEI1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000037573 -- 41,783,472(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000044144 -- 41,704,979(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000057036 -- 41,783,931(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000108267 -- 41,712,515(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000138613 -- 41,769,682(+) G/A genic_downstream_transcript_variant, intron_variant

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

Disorders for MEI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MEI1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
aggressive systemic mastocytosis
  • asm
- elite association - COSMIC cancer census association via MalaCards
Search MEI1 in MalaCards View complete list of genes associated with diseases

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 UniProtKB/Swiss-Prot and 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 58
  2. Initiation of meiotic recombination in mammals. (PMID: 24710101) Kumar R … De Massy B (Genes 2010) 2 3 58
  3. 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 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Analysis of Nedd8-associated polypeptides: a model for deciphering the pathway for ubiquitin-like modifications. (PMID: 16503656) Norman JA … Shiekhattar R (Biochemistry 2006) 3 58

Products for MEI1 Gene

Sources for MEI1 Gene

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