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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
  • 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 Gene Expression and Formation of the HIV-1 Early Elongation Complex.

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

Regulatory Elements for MAEL Gene

Enhancers for MAEL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAEL on UCSC Golden Path with GeneCards custom track

Promoters for MAEL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAEL on UCSC Golden Path with GeneCards custom track

Genomic Location for MAEL Gene

Chromosome:
1
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

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).
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAEL Gene

No data available for DME Specific Peptides for MAEL Gene

Domains & Families for MAEL Gene

Protein Domains for MAEL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAEL Gene

Graphical View of Domain Structure for InterPro Entry

Q96JY0

UniProtKB/Swiss-Prot:

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

Animal Models for MAEL Gene

MGI Knock Outs for MAEL:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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}.

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 --
genes like me logo Genes that share ontologies with MAEL: view

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 from RNA polymerase II promoter IEA --
GO:0000902 cell morphogenesis IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007129 synapsis IEA --
GO:0007275 multicellular organism development IEA --
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:

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 (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



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

Protein tissue co-expression partners for MAEL Gene

- Elite partner

Primer Products

Orthologs for MAEL Gene

This gene was present in the common ancestor of animals.

Orthologs for MAEL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAEL 35
  • 91.75 (n)
  • 91.9 (a)
MAEL 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAEL 35
  • 92.47 (n)
  • 92.63 (a)
MAEL 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mael 35
  • 89.63 (n)
  • 89.86 (a)
Mael 16
Mael 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAEL 35
  • 99.39 (n)
  • 98.85 (a)
MAEL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mael 35
  • 89.32 (n)
  • 90.32 (a)
oppossum
(Monodelphis domestica)
Mammalia MAEL 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAEL 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAEL 35
  • 62.04 (n)
  • 54.19 (a)
MAEL 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mael 35
  • 58.75 (n)
  • 50.66 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002022 35
  • 40.13 (n)
  • 26.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta mael 35
  • 37.73 (n)
  • 20.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_034103 -
rs1119091 -- 167,000,778(+) CAAGA(C/T)AGGAT intron-variant
rs1041238 -- 167,005,183(+) TGTAT(C/G/T)TGTTT intron-variant
rs1410243 -- 167,020,866(+) ACTTT(A/T)AAAAA intron-variant
rs1410247 -- 166,994,738(+) GATCT(C/T)GGCTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2750815 CNV Gain 17911159

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MAEL Gene

Disorders for MAEL Gene

Relevant External Links for MAEL

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

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. (Mol. Biol. Rep. 2010) 2 3 4 67
  2. Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis. (PMID: 18694567) Soper S.F. … Bortvin A. (Dev. Cell 2008) 2 3
  3. Maelstrom promotes hepatocellular carcinoma metastasis by inducing epithelial-mesenchymal transition by way of Akt/GSK-3I^/Snail signaling. (PMID: 23929794) Liu L. … Guan X.Y. (Hepatology 2014) 3
  4. Proteomic analysis reveals that MAEL, a component of nuage, interacts with stress granule proteins in cancer cells. (PMID: 24189637) Yuan L. … Zhou J. (Oncol. Rep. 2014) 3
  5. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3

Products for MAEL Gene

Sources for MAEL Gene

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