InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIWIL1

Summary

InnateDB Protein

IDBP-64639.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PIWIL1

Protein Name

piwi-like 1 (Drosophila)

Synonyms

CT80.1; HIWI; MIWI; PIWI;

Species

Homo sapiens

Ensembl Protein

ENSP00000245255

InnateDB Gene

IDBG-64637 (PIWIL1)

Protein Structure

UniProt Annotation

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. {ECO:0000250, ECO:0000269PubMed:12037681, ECO:0000269PubMed:14749716, ECO:0000269PubMed:16287078}.

Subcellular Localization

Cytoplasm {ECO:0000250}. 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 (By similarity). {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:11154219, ECO:0000269PubMed:12037681, ECO:0000269PubMed:12906857, ECO:0000269PubMed:23436708}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003727	single-stranded RNA binding
GO:0003729	mRNA binding
GO:0005515	protein binding
GO:0019901	protein kinase binding
GO:0034584	piRNA binding

Biological Process

GO:0006417	regulation of translation
GO:0007126	meiotic nuclear division
GO:0007275	multicellular organismal development
GO:0007283	spermatogenesis
GO:0007286	spermatid development
GO:0031047	gene silencing by RNA
GO:0034587	piRNA metabolic process