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Aliases for MAEL Gene

Aliases for MAEL Gene

  • Maelstrom Spermatogenic Transposon Silencer 2 3 5
  • Spermatogenesis Associated 35 2 3
  • Cancer/Testis Antigen 128 2 3
  • Testicular Tissue Protein Li 116 3
  • Maelstrom Homolog (Drosophila) 2
  • Protein Maelstrom Homolog 3
  • Maelstrom Homolog 3
  • SPATA35 3
  • CT128 3

External Ids for MAEL Gene

Previous GeneCards Identifiers for MAEL Gene

  • GC01P163691
  • GC01P165224
  • GC01P138205

Summaries for MAEL Gene

GeneCards Summary for MAEL Gene

MAEL (Maelstrom Spermatogenic Transposon Silencer) is a Protein Coding gene. Among its related pathways are Mitotic Prophase and Gene Expression.

UniProtKB/Swiss-Prot for MAEL Gene

  • Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity).

Additional gene information for MAEL 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 MAEL Gene

Genomics for MAEL Gene

GeneHancer (GH) Regulatory Elements for MAEL Gene

Promoters and enhancers for MAEL 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
GH01I166975 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 586 +0.0 19 1.2 PKNOX1 RB1 ZSCAN4 MZF1 ZNF76 ZNF2 ZNF335 GLIS2 ZNF213 EGR1 MAEL ILDR2 POU2F1 GC01P166981 GC01P166768
GH01I166989 Promoter 0.9 EPDnew 550.4 +13.7 13680 0.1 L3MBTL2 NRF1 CEBPB USF2 REST CEBPG ZBTB33 MGA ILDR2 MAEL GC01P166993 GC01P166768
GH01I166874 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.2 -99.8 -99779 2.4 MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 TADA1 MAEL LOC284685 MPZL1 ILDR2 DUTP6 GC01P166768
GH01I166904 Enhancer 0.6 ENCODE 24 -69.6 -69597 3.1 ATF1 DACH1 ZNF518A GATA3 CREB1 NFE2 CREM TRIM28 NR2C2 SETDB1 MAEL TADA1 LOC105371600 DUSP27 GPA33 ILDR2 GC01M166909 GC01P166768
GH01I166985 Enhancer 0.4 FANTOM5 18.5 +9.6 9602 0.1 ZBTB40 MAEL ILDR2 GC01P166981 GC01P166768
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAEL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAEL gene promoter:

Genomic Locations for MAEL Gene

Genomic Locations for MAEL Gene
chr1:166,975,582-167,022,214
(GRCh38/hg38)
Size:
46,633 bases
Orientation:
Plus strand
chr1:166,958,346-166,991,451
(GRCh37/hg19)

Genomic View for MAEL Gene

Genes around MAEL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MAEL Gene

Proteins for MAEL Gene

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

    Protein Symbol:
    Q96JY0-MAEL_HUMAN
    Recommended name:
    Protein maelstrom homolog
    Protein Accession:
    Q96JY0
    Secondary Accessions:
    • B4DY43
    • E9JVC3
    • Q49AP9
    • Q5VZP8
    • Q9UIW6

    Protein attributes for MAEL Gene

    Size:
    434 amino acids
    Molecular mass:
    49219 Da
    Quaternary structure:
    • Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 (By similarity). Interacts with TEX19 (By similarity).
    SequenceCaution:
    • Sequence=CAH69955.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAEL Gene

    Alternative splice isoforms for MAEL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAEL Gene

Post-translational modifications for MAEL Gene

No Post-translational modifications

No data available for DME Specific Peptides for MAEL Gene

Domains & Families for MAEL Gene

Gene Families for MAEL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAEL Gene

Suggested Antigen Peptide Sequences for MAEL Gene

Graphical View of Domain Structure for InterPro Entry

Q96JY0

UniProtKB/Swiss-Prot:

MAEL_HUMAN :
  • Belongs to the maelstrom family.
Family:
  • Belongs to the maelstrom family.
genes like me logo Genes that share domains with MAEL: view

Function for MAEL Gene

Molecular function for MAEL Gene

UniProtKB/Swiss-Prot Function:
Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity).

Phenotypes From GWAS Catalog for MAEL Gene

Gene Ontology (GO) - Molecular Function for MAEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with MAEL: view
genes like me logo Genes that share phenotypes with MAEL: view

Animal Models for MAEL Gene

MGI Knock Outs for MAEL:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MAEL Gene

Localization for MAEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAEL Gene

Cytoplasm. Nucleus. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs (By similarity). {ECO:0000250 UniProtKB:Q8BVN9}.

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 MAEL gene
Compartment Confidence
nucleus 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MAEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0001741 XY body IEA --
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm ISS --
GO:0030849 autosome IEA --
genes like me logo Genes that share ontologies with MAEL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAEL Gene

Pathways & Interactions for MAEL Gene

genes like me logo Genes that share pathways with MAEL: view

Pathways by source for MAEL Gene

Gene Ontology (GO) - Biological Process for MAEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000902 cell morphogenesis IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007129 synapsis IEA --
GO:0007140 male meiotic nuclear division IBA --
genes like me logo Genes that share ontologies with MAEL: view

No data available for SIGNOR curated interactions for MAEL Gene

Drugs & Compounds for MAEL Gene

No Compound Related Data Available

Transcripts for MAEL Gene

Unigene Clusters for MAEL Gene

Maelstrom spermatogenic transposon silencer:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: -
SP7:
SP8: - -
SP9:

Relevant External Links for MAEL Gene

GeneLoc Exon Structure for
MAEL
ECgene alternative splicing isoforms for
MAEL

Expression for MAEL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x38.8).

Protein differential expression in normal tissues from HIPED for MAEL Gene

This gene is overexpressed in Testis (42.8), Ovary (18.7), and Fetal ovary (7.4).

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



Protein tissue co-expression partners for MAEL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAEL Gene:

MAEL

SOURCE GeneReport for Unigene cluster for MAEL Gene:

Hs.651245

mRNA Expression by UniProt/SwissProt for MAEL Gene:

Q96JY0-MAEL_HUMAN
Tissue specificity: Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its promoter.
genes like me logo Genes that share expression patterns with MAEL: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAEL Gene

Orthologs for MAEL Gene

This gene was present in the common ancestor of animals.

Orthologs for MAEL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAEL 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia MAEL 33 34
  • 92.47 (n)
cow
(Bos Taurus)
Mammalia MAEL 33 34
  • 91.75 (n)
mouse
(Mus musculus)
Mammalia Mael 33 16 34
  • 89.63 (n)
rat
(Rattus norvegicus)
Mammalia Mael 33
  • 89.32 (n)
oppossum
(Monodelphis domestica)
Mammalia MAEL 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAEL 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAEL 33 34
  • 62.04 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mael 33
  • 58.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002022 33
  • 40.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta mael 33
  • 37.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for MAEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for MAEL Gene

ENSEMBL:
Gene Tree for MAEL (if available)
TreeFam:
Gene Tree for MAEL (if available)

Paralogs for MAEL Gene

No data available for Paralogs for MAEL Gene

Variants for MAEL Gene

Sequence variations from dbSNP and Humsavar for MAEL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000007490 -- 167,007,784(+) T/G intron_variant
rs1000036681 -- 166,970,643(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000067127 -- 166,943,309(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000115204 -- 166,950,847(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000178162 -- 167,013,304(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2750815 CNV gain 17911159
nsv1004148 CNV gain 25217958
nsv1078878 OTHER inversion 25765185

Variation tolerance for MAEL Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAEL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAEL

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

Disorders for MAEL Gene

Additional Disease Information for MAEL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAEL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAEL Gene

Publications for MAEL Gene

  1. Identification of a novel human cancer/testis gene MAEL that is regulated by DNA methylation. (PMID: 19693694) Xiao L … Zhang J (Molecular biology reports 2010) 2 3 4 58
  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 44 58
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58
  4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 44 58
  5. Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis. (PMID: 18694567) Soper SF … Bortvin A (Developmental cell 2008) 2 3 58

Products for MAEL Gene

Sources for MAEL Gene

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