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PIWIL3 Gene

protein-coding   GIFtS: 48
GCID: GC22M025115

Piwi-Like RNA-Mediated Gene Silencing 3

(Previous name: piwi-like 3 (Drosophila))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Piwi-Like RNA-Mediated Gene Silencing 31 2
Piwi-Like 3 (Drosophila)1
HIWI32
Piwi-Like 32
Piwi-Like Protein 32

External Ids:    HGNC: 184431   Entrez Gene: 4408222   Ensembl: ENSG000001845717   OMIM: 6103145   UniProtKB: Q7Z3Z33   

Export aliases for PIWIL3 gene to outside databases

Previous GC identifers: GC00U991200 GC22M023442 GC22M008063


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PIWIL3 Gene:
This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains
a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The
encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for PIWIL3 Gene:
PIWIL3 (piwi-like RNA-mediated gene silencing 3) is a protein-coding gene. GO annotations related to this gene include RNA binding. An important paralog of this gene is PIWIL4.

UniProtKB/Swiss-Prot: PIWL3_HUMAN, Q7Z3Z3
Function: May play a 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 govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30
nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons
and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are
probably involved in other processes during meiosis such as translation regulation (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIWIL3 gene promoter:
         COUP-TF1   TBP   Pbx1a   AML1a   NRSF form 1   COUP   NRSF form 2   HNF-4alpha1   COUP-TF   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIWIL3 promoter sequence
   Search Chromatin IP Primers for PIWIL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIWIL3


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

PIWIL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIWIL3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M025115:  view genomic region     (about GC identifiers)

Start:
25,115,001 bp from pter      End:
25,170,687 bp from pter
Size:
55,687 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PIWL3_HUMAN, Q7Z3Z3 (See protein sequence)
Recommended Name: Piwi-like protein 3  
Size: 882 amino acids; 101089 Da

Explore the universe of human proteins at neXtProt for PIWIL3: NX_Q7Z3Z3

Explore proteomics data for PIWIL3 at MOPED


See PIWIL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001008496.2  NP_001242904.1  

ENSEMBL proteins: 
 ENSP00000330031   ENSP00000431843   ENSP00000435718  

PIWIL3 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
AGO: Argonaute/PIWI family

3 InterPro protein domains:
 IPR003165 Piwi
 IPR003100 PAZ_dom
 IPR012337 RNaseH-like_dom

Graphical View of Domain Structure for InterPro Entry Q7Z3Z3

ProtoNet protein and cluster: Q7Z3Z3

2 Blocks protein domains:
IPB003100 Argonaute and Dicer protein
IPB003165 Stem cell self-renewal protein Piwi


UniProtKB/Swiss-Prot: PIWL3_HUMAN, Q7Z3Z3
Similarity: Belongs to the argonaute family. Piwi subfamily
Similarity: Contains 1 PAZ domain
Similarity: Contains 1 Piwi domain


Find genes that share domains with PIWIL3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: PIWL3_HUMAN, Q7Z3Z3
Function: May play a 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 govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30
nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons
and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are
probably involved in other processes during meiosis such as translation regulation (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003676nucleic acid binding ----
GO:0003723RNA binding IEA--
GO:0005515protein binding ----
     
Find genes that share ontologies with PIWIL3           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for PIWIL3

miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PIWL3_HUMAN, Q7Z3Z3: Cytoplasm. Note=Probable component of the meiotic nuage, also named P granule, a
germ-cell-specific organelle required to repress transposon activity during meiosis (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol1
endoplasmic reticulum1
mitochondrion1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PIWIL3 About    
See pathways by source

SuperPathContained pathways About
1Dorso-ventral axis formation
Dorso-ventral axis formation


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for PIWIL3):
    Dorso-ventral axis formation

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIWIL3
Interactions:

    Search GeneGlobe Interaction Network for PIWIL3

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

5 Interacting proteins for PIWIL3 (Q7Z3Z33 ENSP000003300314) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
DICER1Q9UPY33, ENSP000003437454I2D: score=1 STRING: ENSP00000343745
RNF17ENSP000002553244STRING: ENSP00000255324
TDRD1ENSP000002518644STRING: ENSP00000251864
TDRD6ENSP000003460654STRING: ENSP00000346065
TDRD5ENSP000002948484STRING: ENSP00000294848
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Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006417regulation of translation IEA--
GO:0007126meiotic nuclear division IEA--
GO:0007275multicellular organismal development IEA--
GO:0007283spermatogenesis IEA--
GO:0030154cell differentiation IEA--

Find genes that share ontologies with PIWIL3           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for PIWIL3 (PIWL3)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PIWIL3 gene (2 alternative transcripts): 
NM_001008496.3  NM_001255975.1  

Unigene Cluster for PIWIL3:

Piwi-like RNA-mediated gene silencing 3
Hs.448343  [show with all ESTs]
Unigene Representative Sequence: NR_045648
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000332271(uc003abd.1 uc011ajx.1 uc010gut.1 uc011ajy.1)
ENST00000533313 ENST00000527701 ENST00000532537
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hsa-miR-223 hsa-miR-205* hsa-miR-488
SwitchGear 3'UTR luciferase reporter plasmidPIWIL3 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat PIWIL3

Additional mRNA sequence: 

AB079368.1 AK302409.1 AK315806.1 BC144693.1 BC144696.1 NR_045648.1 NR_045649.1 

1 DOTS entry:

DT.101966291 

2 AceView cDNA sequences:

H55093 AB079368 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PIWIL3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTATAATT
PIWIL3 Expression
About this image

PIWIL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PIWIL3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.448343

UniProtKB/Swiss-Prot: PIWL3_HUMAN, Q7Z3Z3
Tissue specificity: Expressed in testis

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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)
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This gene was present in the common ancestor of animals.

Orthologs for PIWIL3 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia LOC4863071 piwi-like protein 1-like 70.92(n)
57.28(a)
  486307  XM_005636521.1  XP_005636578.1 
chicken
(Gallus gallus)
Aves PIWIL16
Gallus gallus piwi-like 1 (Drosophila) (PIWIL1), m...
48(a)
1 → many
15(3327008-3343689)
lizard
(Anolis carolinensis)
Reptilia --
--
(see all 3)
Uncharacterized protein
(see all 3)
47(a)
47(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
GL343538.1(146258-158851)
GL343829.1(14562-40109)
zebrafish
(Danio rerio)
Actinopterygii piwil16
piwi-like 1 (Drosophila)
46(a)
1 → many
8(45837727-45912215) ENSDARG00000041699
fruit fly
(Drosophila melanogaster)
Insecta piwi1 piwi 47.29(n)
35.7(a)
  34521  NM_057527.3  NP_476875.1 
worm
(Caenorhabditis elegans)
Secernentea rde-16
Protein RDE-1 (rde-1) mRNA, complete cds
16(a)
many ↔ many
V(9987915-9991642) WBGene00004323


ENSEMBL Gene Tree for PIWIL3 (if available)
TreeFam Gene Tree for PIWIL3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for PIWIL3 gene
PIWIL42  PIWIL22  AGO32  PIWIL12  AGO12  AGO42  AGO22  
3 SIMAP similar genes for PIWIL3 using alignment to 2 protein entries:     PIWL3_HUMAN (see all proteins):
PIWIL1    PIWIL4    PIWIL2

Find genes that share paralogs with PIWIL3           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PIWIL3 (see all 1465)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1910942471,2
--25114543(+) CTAATC/GAAATG 4 -- ds50010--------
rs1476488191,2
--25114702(+) CCTCAA/GCCTCC 4 -- ds50010--------
rs1821024831,2
--25114704(+) TCAGCC/TTCCCG 4 -- ds50010--------
rs1422731291,2
--25114732(+) GCACCC/TGCCAC 4 -- ds50010--------
rs57606041,2
C,A--25114827(+) GATCCG/ACTCAC 4 -- ds50015Minor allele frequency- A:0.24NA CSA WA EA 362
rs1180359681,2
F--25114985(+) TACAAA/TTATTA 4 -- ds50011Minor allele frequency- T:0.02EA 120
rs1500989621,2
--25114989(+) AATATC/TAAACA 4 -- ds50010--------
rs1454673451,2
--25115059(+) CAAAAA/GTAAAG 4 -- ut31 nc-transcript-variant0--------
rs1435109851,2
--25115090(+) GAGTTG/TACTTG 4 -- ut31 nc-transcript-variant0--------
rs1854996021,2
--25115129(+) TGCCCA/CATCTT 4 -- ut31 nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for PIWIL3 (25115001 - 25170687 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for PIWIL3:    About this table    
Variant IDTypeSubtypePubMed ID
esv2611432CNV Deletion19546169
nsv3579CNV Insertion18451855
nsv914637CNV Loss21882294
nsv522434CNV Gain19592680
nsv7350OTHER Inversion18451855

Human Gene Mutation Database (HGMD): PIWIL3
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing PIWIL3
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(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.)
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OMIM gene information: 610314    OMIM disorders: --


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Genetic Association Database (GAD): PIWIL3
Human Genome Epidemiology (HuGE) Navigator: PIWIL3 (1 document)

Export disorders for PIWIL3 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)
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PubMed articles for PIWIL3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with PIWIL3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of eight members of the Argonaute family in the human genome. (PubMed id 12906857)1, 2, 3 Sasaki T.... Shimizu N. (Genomics 2003)
  2. Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population. (PubMed id 20940137)1, 4 Gu A....Wang X. (Hum. Reprod. 2010)
  3. [Preparation and distribution of polyclonal antibodies against human PIWIL3 protein in tumor tissues]. (PubMed id 18616918)1 Wang X.L....Huang Z.G. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2008)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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, Kegg, and/or H-InvDB)
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Entrez Gene: 440822 HGNC: 18443 AceView: LOC440822 Ensembl:ENSG00000184571 euGenes: HUgn440822
ECgene: PIWIL3 Kegg: 440822 H-InvDB: PIWIL3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for PIWIL3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for PIWIL3 gene:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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