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Aliases for MAEL Gene

Aliases for MAEL Gene

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

External Ids for MAEL Gene

Summaries for MAEL Gene

GeneCards Summary for MAEL Gene

MAEL (Maelstrom Spermatogenic Transposon Silencer) is a Protein Coding gene.

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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAEL Gene

Genomics for MAEL Gene

Genomic Location for MAEL Gene

Start:
166,975,582 bp from pter
End:
167,022,214 bp from pter
Size:
46,633 bases
Orientation:
Plus strand

Genomic View for MAEL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAEL Gene

Regulatory Elements 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).
    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

Proteomics data for MAEL Gene at MOPED

Post-translational modifications for MAEL Gene

No Post-translational modifications

Other Protein References for MAEL Gene

No data available for DME Specific Peptides for MAEL Gene

Domains for MAEL Gene

Protein Domains for MAEL Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MAEL_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • Q96JY0
Family:
  • Belongs to the maelstrom family.:
    • Q96JY0
genes like me logo Genes that share domains with MAEL: view

No data available for Gene Families for MAEL Gene

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).

Gene Ontology (GO) - Molecular Function for MAEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MAEL: view
genes like me logo Genes that share phenotypes with MAEL: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAEL Gene COMPARTMENTS Subcellular localization image for MAEL gene
Compartment Confidence
nucleus 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 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 ISS --
GO:0005737 cytoplasm ISS --
GO:0030849 autosome IEA --
genes like me logo Genes that share ontologies with MAEL: view

Pathways for MAEL Gene

SuperPathways for MAEL Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAEL Gene

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

No data available for Pathways by source for MAEL Gene

Transcripts for MAEL Gene

Unigene Clusters for MAEL Gene

Maelstrom spermatogenic transposon silencer:
Representative Sequences:

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 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 (38.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MAEL Gene

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 expressions with MAEL: view

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 36
  • 99.39 (n)
  • 98.85 (a)
MAEL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAEL 36
  • 91.75 (n)
  • 91.9 (a)
MAEL 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAEL 36
  • 92.47 (n)
  • 92.63 (a)
MAEL 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mael 36
  • 89.63 (n)
  • 89.86 (a)
Mael 16
Mael 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAEL 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAEL 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mael 36
  • 89.32 (n)
  • 90.32 (a)
chicken
(Gallus gallus)
Aves MAEL 36
  • 62.04 (n)
  • 54.19 (a)
MAEL 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 54 (a)
OneToMany
-- 37
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mael 36
  • 58.75 (n)
  • 50.66 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002022 36
  • 40.13 (n)
  • 26.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta mael 36
  • 37.73 (n)
  • 20.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
OneToOne
Species with no ortholog for MAEL:
  • 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 Sequence Context AA Info Type MAF
rs1041238 -- 167,005,183(+) TGTAT(C/T)TGTTT intron-variant
rs1119091 -- 167,000,778(+) CAAGA(C/T)AGGAT intron-variant
rs1327861 -- 167,014,217(+) ACAGC(A/G)TCTTG intron-variant
rs1327862 -- 167,020,882(+) caaac(A/C)ctttt intron-variant
rs1410243 -- 167,020,866(+) ACTTT(A/T)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2750815 CNV Gain 17911159

Relevant External Links for MAEL Gene

HapMap Linkage Disequilibrium report
MAEL

Disorders for MAEL Gene

Relevant External Links for MAEL

Genetic Association Database (GAD)
MAEL
Human Genome Epidemiology (HuGE) Navigator
MAEL
genes like me logo Genes that share disorders with MAEL: view

No data available for UniProtKB/Swiss-Prot 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. (Mol. Biol. Rep. 2010) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for MAEL Gene

Sources for MAEL Gene

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