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Aliases for PIWIL1 Gene

Aliases for PIWIL1 Gene

  • Piwi Like RNA-Mediated Gene Silencing 1 2 3
  • Piwi-Like RNA-Mediated Gene Silencing 1 3 5
  • HIWI 3 4
  • Piwi (Drosophila)-Like 1 2
  • Piwi-Like 1 (Drosophila) 2
  • Piwi Homolog 3
  • CT80.1 3
  • MIWI 3
  • PIWI 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. Among its related pathways are Gene Expression and Mitotic Prophase. GO annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is PIWIL4.

UniProtKB/Swiss-Prot for PIWIL1 Gene

  • Plays a central 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 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. 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 (By similarity). Isoform 3 may be a negative developmental regulator (PubMed:12037681, PubMed:16287078).

Gene Wiki entry for PIWIL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIWIL1 Gene

Genomics for PIWIL1 Gene

Regulatory Elements for PIWIL1 Gene

Genomic Location for PIWIL1 Gene

Chromosome:
12
Start:
130,337,887 bp from pter
End:
130,426,260 bp from pter
Size:
88,374 bases
Orientation:
Plus strand

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
    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.

    Three dimensional structures from OCA and Proteopedia for PIWIL1 Gene

    Alternative splice isoforms for PIWIL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIWIL1 Gene

Proteomics data for PIWIL1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIWIL1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PIWIL1

No data available for DME Specific Peptides for PIWIL1 Gene

Domains & Families for PIWIL1 Gene

Gene Families for PIWIL1 Gene

Suggested Antigen Peptide Sequences for PIWIL1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Belongs to the argonaute family. Piwi subfamily.
Domain:
  • The PAZ domain specifically recognizes binds the 2-O-methylated 3-end of piRNAs.
  • Contains 1 PAZ domain.
  • Contains 1 Piwi domain.
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:
Plays a central 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 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. 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 (By similarity). Isoform 3 may be a negative developmental regulator (PubMed:12037681, PubMed:16287078).
UniProtKB/Swiss-Prot Induction:
Isoform 3 is down-regulated in CD34(+) hematopoietic cells during differentiation.
genes like me logo Genes that share phenotypes with PIWIL1: view

Animal Models for PIWIL1 Gene

MGI Knock Outs for PIWIL1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PIWIL1 Gene COMPARTMENTS Subcellular localization image for PIWIL1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytoskeleton 1
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components 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 KEGG 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 --
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

Unigene Clusters for PIWIL1 Gene

Piwi-like RNA-mediated gene silencing 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PIWIL1

Expression for PIWIL1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PIWIL1 Gene



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 is ubiquitously expressed, and specifically in CD34+ hematopoietic progenitor cells but not in more differentiated cells.
genes like me logo Genes that share expression patterns with PIWIL1: view

Protein tissue co-expression partners for PIWIL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.38 (n)
  • 99.19 (a)
PIWIL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIWIL1 35
  • 91.1 (n)
  • 96.1 (a)
PIWIL1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIWIL1 35
  • 89.68 (n)
  • 95.86 (a)
PIWIL1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Piwil1 16
Piwil1 36
  • 95 (a)
OneToOne
Piwil1 35
  • 82.19 (n)
  • 94.92 (a)
oppossum
(Monodelphis domestica)
Mammalia PIWIL1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
ManyToMany
-- 36
  • 84 (a)
ManyToMany
-- 36
  • 88 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Piwil1 35
  • 81.8 (n)
  • 94.92 (a)
chicken
(Gallus gallus)
Aves PIWIL1 36
  • 76 (a)
OneToMany
PIWIL1 35
  • 73.66 (n)
  • 77.94 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia piwil1 35
  • 68.99 (n)
  • 72.48 (a)
zebrafish
(Danio rerio)
Actinopterygii piwil1 35
  • 64.59 (n)
  • 65.19 (a)
-- 35
piwil1 36
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011204 35
  • 46.56 (n)
  • 39.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta aub 35
  • 49.73 (n)
  • 40.4 (a)
AGO3 36
  • 37 (a)
OneToMany
aub 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea C01G5.2 37
  • 33 (a)
D2030.6 37
  • 34 (a)
prg-2 35
  • 47.8 (n)
  • 37.3 (a)
prg-1 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for PIWIL1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PIWIL1 Gene

Paralogs for PIWIL1 Gene

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

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

Variants for PIWIL1 Gene

Sequence variations from dbSNP and Humsavar for PIWIL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs17856812 - 130,356,986(+) GTTAA(G/T)CCACT nc-transcript-variant, reference, missense
rs1106042 - 130,357,093(+) AATGA(A/G)AAAAG nc-transcript-variant, reference, missense
rs17852568 - 130,361,238(+) ATACC(C/T)GTGTA nc-transcript-variant, reference, missense
rs1018076 -- 130,389,928(-) agaac(C/T)cgtgt intron-variant
rs1106043 -- 130,357,211(+) TTTGA(C/T)GTGGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv533e1 CNV Complex 17122850
esv34208 CNV Gain 17911159
esv29038 CNV Loss 19812545
nsv455765 CNV Gain 19166990
nsv469863 CNV Complex 16826518
esv2746743 CNV Deletion 23290073
nsv936 CNV Insertion 18451855

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)

Relevant External Links for PIWIL1 Gene

HapMap Linkage Disequilibrium report
PIWIL1

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

Disorders for PIWIL1 Gene

Relevant External Links for PIWIL1

Genetic Association Database (GAD)
PIWIL1
Human Genome Epidemiology (HuGE) Navigator
PIWIL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIWIL1

No disorders were found for PIWIL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIWIL1 Gene

Publications for PIWIL1 Gene

  1. Identification of eight members of the Argonaute family in the human genome. (PMID: 12906857) Sasaki T. … Shimizu N. (Genomics 2003) 2 3 4 67
  2. Expression of PSCA, PIWIL1, and TBX2 in endometrial adenocarcinoma. (PMID: 20502058) Liu W.K. … Zhang Z.X. (Onkologie 2010) 3 23
  3. The stem cell-associated Hiwi gene in human adenocarcinoma of the pancreas: expression and risk of tumour-related death. (PMID: 18781170) Grochola L.F. … WA1rl P. (Br. J. Cancer 2008) 3 23
  4. Expression of hiwi gene in human gastric cancer was associated with proliferation of cancer cells. (PMID: 16287078) Liu X. … Shou C. (Int. J. Cancer 2006) 3 23
  5. Human CD34+ stem cells express the hiwi gene, a human homologue of the Drosophila gene piwi. (PMID: 11154219) Sharma A.K. … Hoffman R. (Blood 2001) 3 23

Products for PIWIL1 Gene

Sources for PIWIL1 Gene

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