This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoieti... See more...

Aliases for PIWIL1 Gene

Aliases for PIWIL1 Gene

  • Piwi Like RNA-Mediated Gene Silencing 1 2 3 5
  • HIWI 2 3 4
  • Piwi-Like Protein 1 3 4
  • CT80.1 2 3
  • PIWI 2 3
  • Piwi (Drosophila)-Like 1 2
  • Piwi-Like 1 (Drosophila) 2
  • Piwi Homolog 3
  • EC 3.1.26.- 4
  • PIWIL1 5
  • MIWI 3

External Ids for PIWIL1 Gene

Previous GeneCards Identifiers for PIWIL1 Gene

  • GC12P129251
  • GC12P130586
  • GC12P129175
  • GC12P129347
  • GC12P130822
  • GC12P127807

Summaries for PIWIL1 Gene

Entrez Gene Summary for PIWIL1 Gene

  • This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for PIWIL1 Gene

PIWIL1 (Piwi Like RNA-Mediated Gene Silencing 1) is a Protein Coding gene. Diseases associated with PIWIL1 include Male Infertility and Azoospermia. Among its related pathways are PIWI-interacting RNA (piRNA) biogenesis and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is PIWIL3.

UniProtKB/Swiss-Prot Summary for PIWIL1 Gene

  • Endoribonuclease that plays a central role in postnatal germ cells 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. Directly binds methylated 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. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1.
  • [Isoform 3]: May be a negative developmental regulator (PubMed:12037681, PubMed:16287078).

Gene Wiki entry for PIWIL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIWIL1 Gene

Genomics for PIWIL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIWIL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J130337 Promoter 0.4 EPDnew 263.3 +0.0 2 0.1 CHD2 PIWIL1 LOC101927786 lnc-RIMBP2-2 piR-34822-074 RIMBP2
GH12J130338 Promoter 0.4 EPDnew 250.7 +0.2 185 0.1 CHD2 LOC101927786 PIWIL1 lnc-RIMBP2-2 piR-34822-074 RIMBP2
GH12J130339 Enhancer 0.9 FANTOM5 Ensembl ENCODE 15.9 +2.3 2288 0.9 MAX EP300 CTBP1 CUX1 SMC3 SMARCE1 DPF2 CREB1 FOS RCOR1 PIWIL1 piR-34822-074 RIMBP2
GH12J130045 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 -292.2 -292159 2.1 RXRA ETV4 FOXP1 GATA3 SOX5 HNF4A HHEX DPF2 TFAP4 SP1 ENSG00000256298 ENSG00000261650 LINC02418 PIWIL1 FZD10 TMEM132D
GH12J130042 Promoter 0.7 EPDnew 11.5 -295.5 -295496 0.1 ZNF341 CTCF RAD21 SMC3 YY1 ZNF143 KDM1A HDAC2 CTBP1 HSALNG0095097 LINC02418 PIWIL1 ENSG00000261650 HSALNG0095096 FZD10 TMEM132D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIWIL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIWIL1

Top Transcription factor binding sites by QIAGEN in the PIWIL1 gene promoter:
  • AML1a
  • Arnt
  • ATF-2
  • Brachyury
  • c-Ets-1
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC
  • STAT1

Genomic Locations for PIWIL1 Gene

Latest Assembly
chr12:130,337,887-130,412,708
(GRCh38/hg38)
Size:
74,822 bases
Orientation:
Plus strand

Previous Assembly
chr12:130,822,432-130,857,182
(GRCh37/hg19 by Entrez Gene)
Size:
34,751 bases
Orientation:
Plus strand

chr12:130,822,432-130,857,182
(GRCh37/hg19 by Ensembl)
Size:
34,751 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr12(ALT_REF_LOCI_1):14,812-49,543 (+)

Genomic View for PIWIL1 Gene

Genes around PIWIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIWIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIWIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIWIL1 Gene

Proteins for PIWIL1 Gene

  • Protein details for PIWIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J94-PIWL1_HUMAN
    Recommended name:
    Piwi-like protein 1
    Protein Accession:
    Q96J94
    Secondary Accessions:
    • A4F266
    • O95404
    • Q8NA60
    • Q8TBY5
    • Q96JD5

    Protein attributes for PIWIL1 Gene

    Size:
    861 amino acids
    Molecular mass:
    98603 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts (via Piwi domain) with DICER1, suggesting that it forms ribonucleoprotein RISC complexes; this interaction is regulated by HSP90AB1 activity. Interacts with MAEL, KIF17, PABPC1, PRMT5 and WDR77. Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9. Interacts with CLOCK. Interacts with MOV10L1. Interacts with ANAPC10; interaction oly takes place following piRNA-binding. Interacts with RNF8; leading to sequester RNF8 in the cytoplasm. Interacts with TEX19 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIWIL1 Gene

    Alternative splice isoforms for PIWIL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIWIL1 Gene

Post-translational modifications for PIWIL1 Gene

  • Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule.
  • Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) in late spermatids, leading to its degradation (PubMed:28552346). Ubiquitination only takes place following piRNA-binding in adult testis (By similarity). Ubiquitination and degradation in late spermatogenesis by APC/C is probably required to release RNF8 from the cytoplasm and promote histone to protamine exchange by RNF8 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIWIL1 Gene

Domains & Families for PIWIL1 Gene

Gene Families for PIWIL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PIWIL1 Gene

InterPro:
Blocks:
  • Argonaute and Dicer protein, PAZ
  • Stem cell self-renewal protein Piwi

Suggested Antigen Peptide Sequences for PIWIL1 Gene

GenScript: Design optimal peptide antigens:
  • Piwi-like protein 1 (PIWL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96J94

UniProtKB/Swiss-Prot:

PIWL1_HUMAN :
  • The PAZ domain specifically recognizes binds the 2'-O-methylated 3'-end of piRNAs (PubMed:21193640, PubMed:21465557). The MID region is required for recognition of uridine in the first position of piRNAs (g1U preference, also named 1U-bias) (By similarity).
  • Belongs to the argonaute family. Piwi subfamily.
Domain:
  • The PAZ domain specifically recognizes binds the 2'-O-methylated 3'-end of piRNAs (PubMed:21193640, PubMed:21465557). The MID region is required for recognition of uridine in the first position of piRNAs (g1U preference, also named 1U-bias) (By similarity).
  • The D-box (destruction box) acts as a recognition signal for association with the APC/C complex, ubiquitination and degradation.
Family:
  • Belongs to the argonaute family. Piwi subfamily.
genes like me logo Genes that share domains with PIWIL1: view

Function for PIWIL1 Gene

Molecular function for PIWIL1 Gene

UniProtKB/Swiss-Prot Function:
Endoribonuclease that plays a central role in postnatal germ cells 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. Directly binds methylated 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. Strongly prefers a uridine in the first position of their guide (g1U preference, also named 1U-bias). Not involved in the piRNA amplification loop, also named ping-pong amplification cycle. Acts as an endoribonuclease that cleaves transposon messenger RNAs. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability. Required to sequester RNF8 in the cytoplasm until late spermatogenesis; RNF8 being released upon ubiquitination and degradation of PIWIL1.
UniProtKB/Swiss-Prot Function:
[Isoform 3]: May be a negative developmental regulator (PubMed:12037681, PubMed:16287078).
UniProtKB/Swiss-Prot Induction:
[Isoform 3]: Down-regulated in CD34(+) hematopoietic cells during differentiation.

Enzyme Numbers (IUBMB) for PIWIL1 Gene

Phenotypes From GWAS Catalog for PIWIL1 Gene

Gene Ontology (GO) - Molecular Function for PIWIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003727 single-stranded RNA binding IEA --
GO:0003729 mRNA binding IEA,ISS --
GO:0004518 nuclease activity IEA --
genes like me logo Genes that share ontologies with PIWIL1: view
genes like me logo Genes that share phenotypes with PIWIL1: view

Animal Models for PIWIL1 Gene

MGI Knock Outs for PIWIL1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIWIL1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIWIL1 Gene

Localization for PIWIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIWIL1 Gene

Cytoplasm. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Also present in chromatoid body. {ECO:0000250 UniProtKB:Q9JMB7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIWIL1 gene
Compartment Confidence
nucleus 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
cytosol 2
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIWIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0033391 chromatoid body ISS --
GO:0043186 P granule ISS --
GO:0097433 dense body IEA --
genes like me logo Genes that share ontologies with PIWIL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIWIL1 Gene

Pathways & Interactions for PIWIL1 Gene

genes like me logo Genes that share pathways with PIWIL1: view

Pathways by source for PIWIL1 Gene

1 Cell Signaling Technology pathway for PIWIL1 Gene

Gene Ontology (GO) - Biological Process for PIWIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0007286 spermatid development IEA,ISS --
GO:0010529 negative regulation of transposition ISS --
genes like me logo Genes that share ontologies with PIWIL1: view

No data available for SIGNOR curated interactions for PIWIL1 Gene

Drugs & Compounds for PIWIL1 Gene

No Compound Related Data Available

Transcripts for PIWIL1 Gene

mRNA/cDNA for PIWIL1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIWIL1

Alternative Splicing Database (ASD) splice patterns (SP) for PIWIL1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8:
SP9:

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PIWIL1 Gene

GeneLoc Exon Structure for
PIWIL1

Expression for PIWIL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIWIL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIWIL1 Gene

This gene is overexpressed in Testis (x48.8).

Protein differential expression in normal tissues from HIPED for PIWIL1 Gene

This gene is overexpressed in Ovary (36.8) and Testis (29.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PIWIL1 Gene



Protein tissue co-expression partners for PIWIL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIWIL1

SOURCE GeneReport for Unigene cluster for PIWIL1 Gene:

Hs.405659

mRNA Expression by UniProt/SwissProt for PIWIL1 Gene:

Q96J94-PIWL1_HUMAN
Tissue specificity: Expressed in spermatocytes and spermatids. Also detected in prostate cancer (at protein level). Detected in most fetal and adult tissues. Expressed in testes, specifically in germline cells; detected in spermatocytes and spermatids during spermatogenesis. Increased expression in testicular tumors originating from embryonic germ cells with retention of germ cells phenotype. No expression in testicular tumors of somatic origin, such as Sertoli cell and Leydig cell tumors. Overexpressed in gastric cancer cells. Isoform 3: Ubiquitously expressed, and specifically in CD34(+) hematopoietic progenitor cells but not in more differentiated cells.

Evidence on tissue expression from TISSUES for PIWIL1 Gene

  • Skin(2.5)
  • Nervous system(2.4)
  • Blood(2.3)
  • Liver(2.1)
  • Intestine(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PIWIL1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIWIL1 Gene

Orthologs for PIWIL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIWIL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIWIL1 29 30
  • 99.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIWIL1 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PIWIL1 29 30
  • 91.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIWIL1 29 30
  • 89.68 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 88 (a)
ManyToMany
-- 30
  • 84 (a)
ManyToMany
-- 30
  • 84 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Piwil1 29 16 30
  • 82.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Piwil1 29
  • 81.8 (n)
Chicken
(Gallus gallus)
Aves PIWIL1 29 30
  • 73.66 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 75 (a)
ManyToMany
-- 30
  • 75 (a)
ManyToMany
-- 30
  • 51 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia piwil1 29
  • 68.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii piwil1 29 30
  • 64.59 (n)
OneToMany
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta aub 29 31
  • 49.73 (n)
AGO3 30
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011204 29
  • 46.56 (n)
Worm
(Caenorhabditis elegans)
Secernentea prg-2 29
  • 47.8 (n)
prg-1 30
  • 35 (a)
ManyToMany
D2030.6 31
  • 34 (a)
C01G5.2 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for PIWIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)

Evolution for PIWIL1 Gene

ENSEMBL:
Gene Tree for PIWIL1 (if available)
TreeFam:
Gene Tree for PIWIL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIWIL1: view image
Alliance of Genome Resources:
Additional Orthologs for PIWIL1

Paralogs for PIWIL1 Gene

Paralogs for PIWIL1 Gene

(3) SIMAP similar genes for PIWIL1 Gene using alignment to 7 proteins:

  • PIWL1_HUMAN
  • F5GWW4_HUMAN
  • F5GYG0_HUMAN
  • F5GZL9_HUMAN
  • F5H2F7_HUMAN
  • F5H3U6_HUMAN
  • F5H889_HUMAN
genes like me logo Genes that share paralogs with PIWIL1: view

Variants for PIWIL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIWIL1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1106042 -- p.Arg527Lys
rs17852568 -- p.Leu575Pro
rs17856812 -- p.Lys491Asn
VAR_078965 -- p.Arg217Ala
VAR_078966 -- p.Leu220Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIWIL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIWIL1 Gene

Variant ID Type Subtype PubMed ID
dgv2977n54 CNV gain 21841781
esv2746743 CNV deletion 23290073
esv2759921 CNV gain+loss 17122850
esv29038 CNV loss 19812545
esv34208 CNV gain 17911159
esv3582027 CNV gain 25503493
nsv1039903 CNV gain 25217958
nsv1044735 CNV gain 25217958
nsv1119998 CNV deletion 24896259
nsv1160080 CNV duplication 26073780
nsv455765 CNV gain 19166990
nsv469863 CNV gain 16826518
nsv475234 CNV novel sequence insertion 20440878
nsv560735 CNV gain 21841781
nsv560740 CNV gain 21841781
nsv936 CNV insertion 18451855
nsv952507 CNV deletion 24416366

Variation tolerance for PIWIL1 Gene

Residual Variation Intolerance Score: 5.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIWIL1 Gene

Human Gene Mutation Database (HGMD)
PIWIL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIWIL1
Leiden Open Variation Database (LOVD)
PIWIL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIWIL1 Gene

Disorders for PIWIL1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PIWIL1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
male infertility
  • infertility male
azoospermia
  • spermatogenic failure
infertility
retinitis pigmentosa 49
  • rp49
gastric cancer
  • gastric cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIWL1_HUMAN
  • Note=Defects in PIWIL1 may be a cause of a disorder resulting in the absence of sperm (azoospermia) in the semen, leading to male infertility. Male sterility can be caused by defects in ubiquitination and degradation during late spermatogenesis. {ECO:0000269 PubMed:28552346}.

Additional Disease Information for PIWIL1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PIWIL1: view

No data available for Genatlas for PIWIL1 Gene

Publications for PIWIL1 Gene

  1. Expression of hiwi gene in human gastric cancer was associated with proliferation of cancer cells. (PMID: 16287078) Liu X … Shou C (International journal of cancer 2006) 3 4 22
  2. Identification of eight members of the Argonaute family in the human genome. (PMID: 12906857) Sasaki T … Shimizu N (Genomics 2003) 2 3 4
  3. Human CD34(+) stem cells express the hiwi gene, a human homologue of the Drosophila gene piwi. (PMID: 11154219) Sharma AK … Hoffman R (Blood 2001) 3 4 22
  4. Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis. (PMID: 28552346) Gou LT … Liu MF (Cell 2017) 3 4
  5. Structural insights into piRNA recognition by the human PIWI-like 1 PAZ domain. (PMID: 21465557) Zeng L … Zhou MM (Proteins 2011) 3 4

Products for PIWIL1 Gene

Sources for PIWIL1 Gene