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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAEL Gene

protein-coding   GIFtS: 47
GCID: GC01P166958

maelstrom spermatogenic transposon silencer

(Previous name: maelstrom homolog (Drosophila) )
 Explore 5 diseases affiliated with
MAEL via our new
 Human Malady Compendium 
Biological research products
for MAEL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Maelstrom Spermatogenic Transposon Silencer1 2     RP11-102C16.12
CT1281 2     Cancer/Testis Antigen 1282
SPATA351 2     Maelstrom Homolog2
FLJ149041     Protein Maelstrom Homolog2
Maelstrom Homolog (Drosophila)1     Spermatogenesis Associated 352

External Ids:    HGNC: 259291   Entrez Gene: 849442   Ensembl: ENSG000001431947   OMIM: 6113685   UniProtKB: Q96JY03   

Export aliases for MAEL gene to outside databases

Previous GC identifers: GC01P163691 GC01P165224 GC01P138205


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0
Function: Plays a central role during spermatogenesis by repressing transposable elements and prevent 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
govern the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a
participation in the secondary piRNAs metabolic process. Required for localization of germ-cell factors to the meiotic
nuage (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAEL gene promoter:
         Pbx1a   FAC1   E2F   E2F-1   CBF-A   CBF-B   CP1A   RSRFC4   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAEL promoter sequence
   Search SABiosciences Chromatin IP Primers for MAEL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAEL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24.1   Ensembl cytogenetic band:  1q24.1   HGNC cytogenetic band: 1q24.1

MAEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAEL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P166958:  view genomic region     (about GC identifiers)

Start:
166,958,346 bp from pter      End:
166,991,451 bp from pter
Size:
33,106 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0 (See protein sequence)
Recommended Name: Protein maelstrom homolog  
Size: 434 amino acids; 49219 Da
Subunit: Interacts with SMARCB1, SIN3B and DDX4. Interacts with piRNA-associated proteins TDRD1, PIWIL1 and PIWIL2 (By
similarity)
Subcellular location: Cytoplasm. Nucleus. Note=Component of the meiotic nuage, also named P granule, a
germ-cell-specific organelle required to repress transposon during meiosis. Specifically localizes to piP-bodies, a
subset of the nuage which contains secondary piRNAs (By similarity)
Sequence caution: Sequence=CAH69955.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for MAEL:
2CTO (3D)    
Secondary accessions: B4DY43 Q49AP9 Q5VZP8 Q9UIW6
Alternative splicing: 3 isoforms:  Q96JY0-1   Q96JY0-2   Q96JY0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAEL: NX_Q96JY0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96JY0

  • MAEL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_116247.1  
    ENSEMBL proteins: 
     ENSP00000356846   ENSP00000402143   ENSP00000356844  

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    Uscn Proteins for MAEL

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IEA--
    GO:0001741XY body IEA--
    GO:0005634nucleus ISS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ISS--


    MAEL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MAEL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     IPR024970 Maelstrom

    Graphical View of Domain Structure for InterPro Entry Q96JY0

    ProtoNet protein and cluster: Q96JY0

    UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0
    Similarity: Belongs to the maelstrom family
    Similarity: Contains 1 HMG box DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0
    Function: Plays a central role during spermatogenesis by repressing transposable elements and prevent 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
    govern the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a
    participation in the secondary piRNAs metabolic process. Required for localization of germ-cell factors to the meiotic
    nuage (By similarity)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MAEL:
    hsa-miR-624*
    SwitchGear 3'UTR luciferase reporter plasmidMAEL 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAEL

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----


    MAEL for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mael):
     cellular  endocrine/exocrine gland  reproductive system 

    MAEL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAEL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for MAEL (Q96JY03 ENSP000003568464) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIN3BO751823, ENSP000003691314I2D: score=1 STRING: ENSP00000369131
    SMARCB1Q128243, ENSP000002631214I2D: score=1 STRING: ENSP00000263121
    TDRD1Q9BXT43, ENSP000002518644I2D: score=1 STRING: ENSP00000251864
    PIWIL2Q8TC593, ENSP000003492084I2D: score=1 STRING: ENSP00000349208
    PIWIL1Q96J943, ENSP000002452554I2D: score=1 STRING: ENSP00000245255
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000902cell morphogenesis IEA--
    GO:0006974response to DNA damage stimulus IEA--
    GO:0007128meiotic prophase I IEA--
    GO:0007129synapsis IEA--


    MAEL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAEL
    Search CenterWatch for drugs/clinical trials and news about MAEL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAEL gene: 
    NM_032858.1  

    Unigene Cluster for MAEL:

    Maelstrom spermatogenic transposon silencer
    Hs.651245  [show with all ESTs]
    Unigene Representative Sequence: BC034310
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367872(uc021peh.1 uc001gdy.1 uc001gdz.1) ENST00000447624
    ENST00000491055(uc009wvf.1) ENST00000487826 ENST00000367870

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MAEL:
    hsa-miR-624*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK027810.1 AK131066.1 AK302253.1 AL133073.1 BC028595.2 BC034310.1 DQ076156.2 GU383113.1 
    GU383114.1 

    7 DOTS entries:

    DT.413784  DT.91818096  DT.97837568  DT.100790988  DT.99946801  DT.100020079  DT.121440223 

    24/147 AceView cDNA sequences (see all 147):

    AA416959 BP371250 CR624981 BI825432 BP369554 AA470046 CR597287 AW134538 
    BP371654 AA393260 AA398518 BP370827 BI829160 AA608981 AI138893 AA421199 
    CR614428 BP371720 CA488170 AL133073 BP369150 AI769054 AA412123 BP369432 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MAEL (see all 9)    About this scheme

    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:                                                                                                        -     -                                       


    ECgene alternative splicing isoforms for MAEL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAAAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MAEL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MAEL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAEL

    SOURCE GeneReport for Unigene cluster: Hs.651245

    UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0
    Tissue specificity: Testis-specific. Expressed in various cancer cell lines, probably due to demethylation of its
    promoter

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MAEL gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mael1 , 5 maelstrom homolog (Drosophila)1, 5 89.63(n)1
    89.86(a)1
      1 (73.56 cM)5
    985581  NM_175296.41  NP_780505.11 
     1662013855 
    chicken
    (Gallus gallus)
    Aves MAEL1 maelstrom homolog (Drosophila) 61.76(n)
    52.87(a)
      418446  XM_416657.3  XP_416657.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAEL6
    --
    53(a)
    1 ↔ 1
    1(186884952-186885767)
    fruit fly
    (Drosophila melanogaster)
    Insecta mael6
    maelstrom
    16(a)
    1 ↔ 1
    3L(22717333-22719334)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/577 NCBI SNPs in MAEL are shown (see all 577    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs64270491,2
    C,F,A,H,--166956593(+) AATAGC/TTCATT 1 -- us2k18Minor allele frequency- T:0.31NA WA CSA EA 368
    rs66698861,2
    C,F,H,--166956710(+) GCTACT/CCTCAA 1 -- us2k110Minor allele frequency- C:0.20NS EA NA CSA WA 738
    rs66569991,2
    C,F,A,--166956807(+) GTCAAC/GCAGTT 1 -- us2k19Minor allele frequency- G:0.37NA WA CSA EA 370
    rs1441503261,2
    --166956851(+) TTCAGA/TTCCTT 1 -- us2k10--------
    rs1840466631,2
    --166956931(+) ACAAAA/CATTAG 1 -- us2k10--------
    rs1387799811,2
    --166957141(+) AAATAC/TCACAA 1 -- us2k10--------
    rs109186061,2
    C,F,A,H,--166957249(+) TACTAA/GGAATG 1 -- us2k111Minor allele frequency- G:0.30NA WA CSA EA 484
    rs121214801,2
    H--166957258(+) tggtaG/Cgctgc 1 -- us2k14Minor allele frequency- C:0.00NS EA 416
    rs1418293131,2
    --166957267(+) GCATCA/GTTAGA 1 -- us2k10--------
    rs115787071,2
    C,H--166957305(+) aattaG/Agccag 1 -- us2k15Minor allele frequency- A:0.00NS EA NA 404

    HapMap Linkage Disequilibrium report for MAEL (166958346 - 166991451 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MAEL
         1 CNV: 8338

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAEL
    DNA2.0 Custom Variant and Variant Library Synthesis for MAEL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MAEL for disorders           About GeneDecksing

    OMIM gene information: 611368    OMIM disorders: --

    5 diseases for MAEL:    About MalaCards
    gonorrhea    essential hypertension    hypertension    t-cell leukemia
    leukemia

    Human Genome Epidemiology (HuGE) Navigator: MAEL (3 documents)

    Export disorders for MAEL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MAEL gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with MAEL)
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    1. Identification of a novel human cancer/testis gene MAEL that is regulated by DNA methylation. (PubMed id 19693694)1, 2, 3 Xiao L....Zhang J. (2009)
    2. Mouse maelstrom, a component of nuage, is essential fo r spermatogenesis and transposon repression in meiosis. (PubMed id 18694567)1, 3 Soper S.F....Bortvin A. (2008)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1 Ehret G.B....Chakravarti A. (2009)
    9. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1 Cheung C.L....Kung A.W. (2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84944 HGNC: 25929 AceView: FLJ14904 Ensembl:ENSG00000143194 euGenes: HUgn84944
    ECgene: MAEL H-InvDB: MAEL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAEL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAEL gene:
    Search GeneIP for patents involving MAEL

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