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PIWIL1 (piwi-like RNA-mediated gene silencing 1)

Written2013-05Shozo Honda, Yohei Kirino
Department of Biomedical Sciences, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namespiwi (Drosophila)-like 1
piwi-like 1 (Drosophila)
Alias_symbol (synonym)PIWI
HIWI
CT80.1
Other aliasMIWI
HGNC (Hugo) PIWIL1
LocusID (NCBI) 9271
Atlas_Id 46561
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 130337888 and ends at 130371380 bp from pter ( according to hg19-Feb_2009)  [Mapping PIWIL1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PIWIL1 (12q24.33) / ADGRL1 (19p13.12)
Note The HIWI gene belongs to an evolutionarily conserved PIWI gene family that comprises four members in human (PIWIL1/HIWI, PIWIL2, PIWIL3/HILI and PIWIL4/HIWI2) (Sasaki et al., 2003).

DNA/RNA

Note HIWI cDNA was first partially isolated as an ortholog of Drosophila PIWI (Cox et al., 1998) and then fully identified in a human testis cDNA library (Qiao et al., 2002; Sharma et al., 2001).
 
  HIWI gene occupies a 34445-bp region from positions 130822433 to 130856877 on chromosome 12.
Transcription HIWI has two transcript variants. Variant 1 (NCBI Ref Seq: NM_004764.4) was cloned from a human testis cDNA library (Qiao et al., 2002; Sharma et al., 2001). It is 3591 nt in length and comprises 21 verified exons, of which 20 are coding exons with a total length of 2586 nt. The 5'- and 3'-UTRs are 271 and 734 nt long, respectively. Variant 2 has an alternative 3'-UTR, resulting in shorter protein with truncated C-terminus compared with variant 1. Variant 2 was detected by transcriptome analyses of the "full-length long JAPAN" (FLJ) collection (Ota et al., 2004).

Protein

Note HIWI protein (NCBI Ref Seq: NP_004755.2) belongs to the PIWI subgroup of Argonaute family proteins, evolutionarily conserved proteins containing two characteristic protein motifs, PAZ and PIWI (Carmell et al., 2002). Argonaute family proteins can be divided into two subclades, AGO and PIWI, and form complexes with small RNAs to regulate gene expressions (Carmell et al., 2002; Hock and Meister, 2008).
 
Description The HIWI gene encodes an 861-amino-acid protein (98 kDa). The HIWI protein contains two characteristic protein motifs: a PAZ domain (aa 278-413) and a PIWI domain (aa 556-847). In Argonaute family proteins, the PAZ domain serves as a docking site for the 3'-end of small RNA, whereas the PIWI domain has a structure similar to RNaseH, which cleaves the RNA strand of an RNA-DNA hybrid (Elkayam et al., 2012; Parker and Barford, 2006). Indeed, all three species of the Drosophila PIWI protein family show small RNA-guided RNA cleavage (slicer) activity (Gunawardane et al., 2007; Nishida et al., 2007; Saito et al., 2006). In mouse, MIWI (mouse orthologs of HIWI) and MILI also have the slicer activity, which is essential for transposon silencing and fertility (De Fazio et al., 2011; Reuter et al., 2011). In addition, the HIWI protein contains glycine-arginine-rich repeats mainly in its N-terminus (aa 3-15:GRARARARGRARG; aa18-20:GRG; aa728-730:GRG), and these are the motifs for symmetrical dimethylarginine (sDMA) modifications catalyzed by PRMT5 methyltransferase (Kirino et al., 2009). sDMA positions of MIWI were determined by mass spectrometry (Chen et al., 2009; Vagin et al., 2009). PIWI sDMAs serve as binding elements for TUDOR-domain containing proteins, and the sDMA-dependent protein interactions play crucial roles in piRNA function and germline development (Chen et al., 2011; Siomi et al., 2010).
Expression Expression of the PIWI protein family is restricted to germline cells (Farazi et al., 2008).
Function PIWI protein family was named after the Drosophila protein PIWI (P-element induced wimpy testis) (Carmell et al., 2002; Farazi et al, 2008). The Drosophila PIWI was first identified in a genetic screen for mutants that affect stem cell division in the germline, and subsequent studies demonstrated that Drosophila PIWI is essential for gametogenesis and is a key regulator of female germline stem cells (Cox et al., 1998; Cox et al., 2000; Lin and Spradling, 1997). PIWI protein mutations in various organisms, including mice and zebrafish, commonly cause defects in gametogenesis, indicating evolutionarily conserved essential roles for PIWI proteins in germline development (Carmell et al., 2007; Deng and Lin, 2002; Houwing et al., 2008; Houwing et al., 2007; Kuramochi-Miyagawa et al., 2004). Since 2006, the small RNAs bound to PIWI proteins have been identified and termed PIWI-interacting RNAs (piRNAs) (Siomi et al., 2011). piRNAs are 24-31 nt in length and are a highly complex mix of sequences derived from defined genomic regions called piRNA clusters. Many piRNAs are derived from transposable elements, and PIWI/piRNA complexes play a crucial role in silencing transposons during germline development (Siomi et al., 2011).

Implicated in

Note
  
Entity Various cancers
Note Although the expression of PIWI family proteins is normally restricted to germline cells, HIWI has been reported to be aberrantly expressed in a variety of cancers (Suzuki et al., 2012).
  
  
Entity Seminoma
Note The first report on PIWI expression in cancer was in seminomas (Qiao et al., 2002). HIWI was detected in seminomas but not in non-seminomas, spermatocytic seminomas, or testicular tumors originating from somatic cells such as Sertoli cells and Leydig cells (Qiao et al., 2002).
  
  
Entity Gastric cancer
Note HIWI was expressed in gastric cancer cell lines and tissues, and its expression was correlated with precancerous development and cell proliferation (Liu et al., 2006). HIWI expression was also positively correlated with T stage, lymph node metastasis, and clinical TNM, and patients with higher HIWI expression had shorter survival times (Wang et al., 2012).
  
  
Entity Sarcoma
Note An increased expression of HIWI mRNA was correlated with prognosis of patients with soft-tissue sarcomas (Taubert et al., 2007). HIWI expression promoted sarcomagenesis in cells, developed sarcoma in mice, and correlated with DNA methylation in sarcoma cells (Siddiqi et al., 2012).
  
  
Entity Pancreatic cancer
Note Patients with altered levels of HIWI mRNA had increased risk of tumor-related death (Grochola et al., 2008).
  
  
Entity Esophageal cancer
Note The cytoplasmic expression of HIWI significantly correlated with histological grade and poorer clinical outcome (He et al., 2009).
  
  
Entity Cervical cancer
Note Elevated HIWI expression was associated with cervical cancer invasion and human papillomavirus infection, but not with patient age or histological grade (Liu et al., 2010a).
  
  
Entity Endometrial cancer
Note HIWI was expressed in endometrial adenocarcinoma but did not correlate with pathological features (Liu et al., 2010b).
  
  
Entity Glioma
Note The expression level of HIWI was positively correlated with tumor grade, and patients with high HIWI expression had poorer clinical outcomes (Sun et al., 2011).
  
  
Entity Colon cancer
Note In colorectal cancer, HIWI expression in early stage and in adjacent non-cancerous tissues negatively correlated with survival rates and times of the patients (Zeng et al., 2011). Among colon cancer patients without lymph node metastasis, those with HIWI-positive tumors had a significantly lower survival rate than those with HIWI-negative tumors (Liu et al., 2012).
  
  
Entity Liver cancer
Note HIWI expression in hepatocellular carcinoma tissues was significantly higher than in adjacent normal hepatic tissue and was correlated with metastasis (Jiang et al., 2011). HIWI expression positively correlated with tumor size and metastasis and negatively correlated with survival rates in hepatocellular carcinoma cells and tissues (Zhao et al., 2012).
  
  
Entity Lung cancer
Note HIWI knockdown decreased cell proliferation and promoted apoptosis of lung cancer stem cells (Liang et al., 2013; Liang et al., 2012).
  

Bibliography

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PMID 21327579
 
Arginine methylation of Piwi proteins catalysed by dPRMT5 is required for Ago3 and Aub stability.
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PMID 19377467
 
Mili, a mammalian member of piwi family gene, is essential for spermatogenesis.
Kuramochi-Miyagawa S, Kimura T, Ijiri TW, Isobe T, Asada N, Fujita Y, Ikawa M, Iwai N, Okabe M, Deng W, Lin H, Matsuda Y, Nakano T.
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PMID 14736746
 
Hiwi knockdown inhibits the growth of lung cancer in nude mice.
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PMID 23621188
 
Effect of RNA interference-related HiWi gene expression on the proliferation and apoptosis of lung cancer stem cells.
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PIWI Expression and Function in Cancer.
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PMID 23087701
 
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PMID 19584108
 
The PIWI protein acts as a predictive marker for human gastric cancer.
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PMID 22670175
 
HIWI expression profile in cancer cells and its prognostic value for patients with colorectal cancer.
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PMID 21933617
 
HIWI is associated with prognosis in patients with hepatocellular carcinoma after curative resection.
Zhao YM, Zhou JM, Wang LR, He HW, Wang XL, Tao ZH, Sun HC, Wu WZ, Fan J, Tang ZY, Wang L.
Cancer. 2012 May 15;118(10):2708-17. doi: 10.1002/cncr.26524. Epub 2011 Oct 11.
PMID 21989785
 

Citation

This paper should be referenced as such :
Honda, S ; Kirino, Y
PIWIL1 (piwi-like RNA-mediated gene silencing 1)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(12):833-836.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PIWIL1ID46561ch12q24.html


External links

Nomenclature
HGNC (Hugo)PIWIL1   9007
Cards
AtlasPIWIL1ID46561ch12q24
Entrez_Gene (NCBI)PIWIL1  9271  piwi like RNA-mediated gene silencing 1
AliasesCT80.1; HIWI; MIWI; PIWI
GeneCards (Weizmann)PIWIL1
Ensembl hg19 (Hinxton)ENSG00000125207 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125207 [Gene_View]  chr12:130337888-130371380 [Contig_View]  PIWIL1 [Vega]
ICGC DataPortalENSG00000125207
TCGA cBioPortalPIWIL1
AceView (NCBI)PIWIL1
Genatlas (Paris)PIWIL1
WikiGenes9271
SOURCE (Princeton)PIWIL1
Genetics Home Reference (NIH)PIWIL1
Genomic and cartography
GoldenPath hg38 (UCSC)PIWIL1  -     chr12:130337888-130371380 +  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIWIL1  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblPIWIL1 - 12q24.33 [CytoView hg19]  PIWIL1 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIPIWIL1 [Mapview hg19]  PIWIL1 [Mapview hg38]
OMIM605571   
Gene and transcription
Genbank (Entrez)AB274731 AF104260 AF264004 AF387507 AK093133
RefSeq transcript (Entrez)NM_001190971 NM_004764
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_187589
Consensus coding sequences : CCDS (NCBI)PIWIL1
Cluster EST : UnigeneHs.405659 [ NCBI ]
CGAP (NCI)Hs.405659
Alternative Splicing GalleryENSG00000125207
Gene ExpressionPIWIL1 [ NCBI-GEO ]   PIWIL1 [ EBI - ARRAY_EXPRESS ]   PIWIL1 [ SEEK ]   PIWIL1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIWIL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9271
GTEX Portal (Tissue expression)PIWIL1
Human Protein AtlasENSG00000125207-PIWIL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J94   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96J94  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96J94
Splice isoforms : SwissVarQ96J94
PhosPhoSitePlusQ96J94
Domaine pattern : Prosite (Expaxy)PAZ (PS50821)    PIWI (PS50822)   
Domains : Interpro (EBI)ArgoL1    GAGE    PAZ_dom    Piwi    PIWIL1    RNaseH-like_dom   
Domain families : Pfam (Sanger)ArgoL1 (PF08699)    GAGE (PF05831)    PAZ (PF02170)    Piwi (PF02171)   
Domain families : Pfam (NCBI)pfam08699    pfam05831    pfam02170    pfam02171   
Domain families : Smart (EMBL)GAGE (SM01379)  PAZ (SM00949)  Piwi (SM00950)  
Conserved Domain (NCBI)PIWIL1
DMDM Disease mutations9271
Blocks (Seattle)PIWIL1
PDB (SRS)2L5C    2L5D    3O3I    3O6E    3O7V   
PDB (PDBSum)2L5C    2L5D    3O3I    3O6E    3O7V   
PDB (IMB)2L5C    2L5D    3O3I    3O6E    3O7V   
PDB (RSDB)2L5C    2L5D    3O3I    3O6E    3O7V   
Structural Biology KnowledgeBase2L5C    2L5D    3O3I    3O6E    3O7V   
SCOP (Structural Classification of Proteins)2L5C    2L5D    3O3I    3O6E    3O7V   
CATH (Classification of proteins structures)2L5C    2L5D    3O3I    3O6E    3O7V   
SuperfamilyQ96J94
Human Protein Atlas [tissue]ENSG00000125207-PIWIL1 [tissue]
Peptide AtlasQ96J94
HPRD10409
IPIIPI00290933   IPI00747208   IPI00746870   IPI01014640   IPI01015882   IPI01015200   IPI01014638   IPI01019127   
Protein Interaction databases
DIP (DOE-UCLA)Q96J94
IntAct (EBI)Q96J94
FunCoupENSG00000125207
BioGRIDPIWIL1
STRING (EMBL)PIWIL1
ZODIACPIWIL1
Ontologies - Pathways
QuickGOQ96J94
Ontology : AmiGOsingle-stranded RNA binding  mRNA binding  endoribonuclease activity  protein binding  nucleus  cytoplasm  polysome  mRNA cap binding complex  regulation of translation  multicellular organism development  spermatogenesis  spermatid development  negative regulation of transposition  protein kinase binding  gene silencing by RNA  chromatoid body  piRNA binding  piRNA metabolic process  P granule  metal ion binding  meiotic cell cycle  RNA phosphodiester bond hydrolysis, endonucleolytic  dense body  
Ontology : EGO-EBIsingle-stranded RNA binding  mRNA binding  endoribonuclease activity  protein binding  nucleus  cytoplasm  polysome  mRNA cap binding complex  regulation of translation  multicellular organism development  spermatogenesis  spermatid development  negative regulation of transposition  protein kinase binding  gene silencing by RNA  chromatoid body  piRNA binding  piRNA metabolic process  P granule  metal ion binding  meiotic cell cycle  RNA phosphodiester bond hydrolysis, endonucleolytic  dense body  
Pathways : KEGGDorso-ventral axis formation   
REACTOMEQ96J94 [protein]
REACTOME PathwaysR-HSA-5601884 [pathway]   
NDEx NetworkPIWIL1
Atlas of Cancer Signalling NetworkPIWIL1
Wikipedia pathwaysPIWIL1
Orthology - Evolution
OrthoDB9271
GeneTree (enSembl)ENSG00000125207
Phylogenetic Trees/Animal Genes : TreeFamPIWIL1
HOVERGENQ96J94
HOGENOMQ96J94
Homologs : HomoloGenePIWIL1
Homology/Alignments : Family Browser (UCSC)PIWIL1
Gene fusions - Rearrangements
Tumor Fusion PortalPIWIL1
Fusion Cancer (Beijing)PIWIL1 [12q24.33]  -  LPHN1 [FUSC004258]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIWIL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIWIL1
dbVarPIWIL1
ClinVarPIWIL1
1000_GenomesPIWIL1 
Exome Variant ServerPIWIL1
ExAC (Exome Aggregation Consortium)ENSG00000125207
GNOMAD BrowserENSG00000125207
Genetic variants : HAPMAP9271
Genomic Variants (DGV)PIWIL1 [DGVbeta]
DECIPHERPIWIL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIWIL1 
Mutations
ICGC Data PortalPIWIL1 
TCGA Data PortalPIWIL1 
Broad Tumor PortalPIWIL1
OASIS PortalPIWIL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIWIL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIWIL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PIWIL1
DgiDB (Drug Gene Interaction Database)PIWIL1
DoCM (Curated mutations)PIWIL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIWIL1 (select a term)
intoGenPIWIL1
NCG5 (London)PIWIL1
Cancer3DPIWIL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605571   
Orphanet
DisGeNETPIWIL1
MedgenPIWIL1
Genetic Testing Registry PIWIL1
NextProtQ96J94 [Medical]
TSGene9271
GENETestsPIWIL1
Target ValidationPIWIL1
Huge Navigator PIWIL1 [HugePedia]
snp3D : Map Gene to Disease9271
BioCentury BCIQPIWIL1
ClinGenPIWIL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9271
Chemical/Pharm GKB GenePA33341
Clinical trialPIWIL1
Miscellaneous
canSAR (ICR)PIWIL1 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIWIL1
EVEXPIWIL1
GoPubMedPIWIL1
iHOPPIWIL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:59:27 CET 2017

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