| Gene Symbol |
PIWIL1
|
| Entrez Gene |
9271
|
| Alt Symbol |
CT80.1, HIWI, MIWI, PIWI
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
piwi-like RNA-mediated gene silencing 1
|
| Other Description |
piwi homolog|piwi-like protein 1
|
| Swissprots |
Q96JD5 Q8TBY5 Q96J94 A4F266 Q8NA60 O95404
|
| Accessions |
CBH19412 CBH30591 EAW98509 EAW98510 EAW98511 Q96J94 AB274731 BAF49084 AF104260 AAC97371 AF264004 AAK92281 AF387507 AAK69348 AK093133 BAC04068 BC028581 AAH28581 BG718140 DB072454 DB527532 JF432823 ADZ16040 XM_005253632 XP_005253689 XM_006719698 XP_006719761 XM_011539002 XP_011537304 XM_011539003 XP_011537305 XM_011539004 XP_011537306 XM_011539005 XP_011537307 XM_011539006 XP_011537308 XM_011546618 XP_011544920 XM_011546619 XP_011544921 XM_011546620 XP_011544922 XM_011546621 XP_011544923 XR_944838 XR_944839 NM_001190971 NP_001177900 NM_004764 NP_004755
|
| 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 dev
|
| Subcellular Location |
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}.
|
| 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:0000269|PubMed:11154219, ECO:0000269|PubMed:12037681, ECO:0000269|PubMed:12906857, ECO:0000269|PubMed:23436708}.
|
| Top Pathways |
Dorso-ventral axis formation
|