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MAEL Gene

protein-coding   GIFtS: 46

GC01P165224
maelstrom homolog (Drosophila)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ14904 1, 2
OTTHUMP00000032343 2
RP11-102C16.1 2
Descriptions
maelstrom homolog 2
maelstrom homolog (Drosophila) 2
External Ids
HGNC: 259291
Entrez Gene: 849442
UniProtKB: Q96JY03
Ensembl: ENSG000001431947
Search outside databases for aliases for MAEL gene

Previous GC identifer: GC01P163691

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Probably 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 (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAEL gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P165224:     (about GC identifiers)

Start:
165,224,975 bp from pter
End:
165,258,071 bp from pter
Size:
33,097 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 (By
similarity)
Sequence caution: Sequence=CAH69955.1; Type=Erroneous gene model prediction;
PDB structures from and Proteopedia :
2CTO (3D)    
Secondary accessions: B4DY43 Q49AP9 Q5VZP8 Q9UIW6
Alternative splicing: 3 isoforms:  Q96JY0-1   Q96JY0-2   Q96JY0-3   

REFSEQ proteins: NP_116247.1  

ENSEMBL proteins: 
ENSP00000356846 ENSP00000356844 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Mael)
Browse Abnova for Human Recombinant Proteins
              OriGene Purified Recombinant Human Protein: MAEL 


Antibodies for MAEL: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (Mael), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for MAEL

Assays for MAEL: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR015101 DUF1898


   GeneDecks  MAEL for the domains selected above  
About GeneDecksing

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MAEL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032858

              Applied Biosystems Silencer® siRNAs for MAEL

              Sigma-Aldrich siRNA for MAEL  
                     Sigma-Aldrich shRNA for MAEL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for MAEL
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032858
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032858
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_032858 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_032858

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. Probably 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 (By similarity)

3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mael):

cellularendocrine/exocrine glandreproductive system

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003677 DNA binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



2 Interacting proteins for MAEL (ENSP000003568463) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
DICER1ENSP000003437453STRING (score=.702)
--ENSP000003670273STRING (score=.782)
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MAEL

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MAEL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032858

              Sigma-Aldrich siRNA for MAEL  
                     Sigma-Aldrich shRNA for MAEL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_032858  

REFSEQ mRNAs for MAEL gene: 

NM_032858.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_032858  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032858
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032858
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_032858 

Additional cDNA sequence: 

AK027810.1 AK131066.1 AK302253.1 AL133073.1 BC028595.2 BC034310.1 CR597287.1 CR614428.1 
CR624981.1 DQ076156.2 

7 DOTS entries:

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

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

BP369150 BP370827 AK027810 AI769054 BP369432 BP369922 BI829160 AL133073 
AA446073 BP369554 BP371250 BI825432 CR624981 AW134538 AA398518 BP371654 
AA470046 AI365191 BP369667 AA412123 NM_032858 BP370327 AA446177 BC028595 

highest scoring ESTs for MAEL:

AI026927 AA229169 AA229204 AA383613 AA393102 AA398518 AA412123 AA416548 AA416959 AA421199 

Unigene Cluster for MAEL:

Maelstrom homolog (Drosophila)
Hs.651245  [show with all ESTs]
Unigene Representative Sequence: BC034310


GeneLoc Exon Structure

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

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:                                                                                                        -     -                                       

About this scheme

ECgene alternative splicing isoforms for MAEL

2 Ensembl transcripts including schematic representations:
ENST00000367872  ENST00000367870  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MAEL expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for MAEL

1 / 2 / 3

3 probe-sets matching MAEL gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

60472_at2, 3 U95-C 1 1.00 1.00 1.00 1.00 AI026927 1.00 1.00 1.00 1

229475_at2, 3 U133-B 1 1.00 1.00 -- -- AA446073 0.80 1.00 0.91 1

229475_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AAGAAAATGA

SOURCE GeneReport for Unigene cluster: Hs.651245

UniProtKB/Swiss-Prot: MAEL_HUMAN, Q96JY0
Tissue specificity: Testis specific

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for MAEL gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
MAEL1   -- maelstrom homolog (Drosophila) 92.47(n)
92.63(a)
490363  XM_547484.2  XP_547484.2 
chimpanzee
(Pan troglodytes)
MAEL1   -- maelstrom homolog (Drosophila) 99.38(n)
98.84(a)
457484  XM_513969.2  XP_513969.2 
cow
(Bos taurus)
MAEL1   -- maelstrom homolog (Drosophila) 91.75(n)
91.9(a)
541073  NM_001038193.1  NP_001033282.1 
rat
(Rattus norvegicus)
Mael1   -- maelstrom homolog (Drosophila) 89.32(n)
90.32(a)
364039  XM_344169.3  XP_344170.1 
mouse
(Mus musculus)
Mael1, 5 15
maelstrom homolog (Drosophila)1, 5 89.63(n)1
89.86(a)1
985581  NM_175296.41  NP_780505.11 
 AK0771035  AK1658015  (see all 7)
About this table        Species with no ortholog for MAEL

ENSEMBL Gene Tree for MAEL
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/142 NCBI SNPs in MAEL are shown (see all 142 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 50)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs109186071,2
A,C,F,H165224427(+) ACTAGT/CATAAG 1 -- ng5111Minor allele frequency- C:0.20EU EA WA NA 958
rs115783361,2
A,C,F,H165225334(+) GCTCCT/GCAGAC 1 A/S mis110Minor allele frequency- G:0.18MN EA EU WA 1190
rs109186061,2
A,C,F165223873(+) tactaA/Ggaatg 1 -- ng513Minor allele frequency- G:0.27NA 116
--
rs75275681,2
A,C165224207(+) ccctgC/Tctaaa 1 -- ng510--------
rs115787071,2
C,H165223929(+) aattaG/Agccag 1 -- ng514Minor allele frequency- A:0.00EU EA WA 402
--
rs64270491,2
A,C165223217(+) aatagC/Ttcatt 1 -- ng510--------
--
rs66698861,2
F,H165223334(+) gctacT/Cctcaa 1 -- ng514Minor allele frequency- C:0.20EU EA WA 374
rs121214801,2
H165223882(+) tggtaG/Cgctgc 1 -- ng514Minor allele frequency- C:0.00EU EA WA 416
--
rs14102461,2
A165224143(+) GAGGTC/TTAGGC 1 -- ng510--------
--
rs66569991,2
A165223431(+) gtcaaC/Gcagtt 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for MAEL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 611368

Human Genome Epidemiology Navigator: MAEL (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

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

7 PubMed articles for MAEL gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for MAEL:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for MAEL-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for MAEL Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for MAEL Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Antibodies (Mael)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for MAEL




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for MAEL

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