PIWIL3 piwi like RNA-mediated gene silencing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIWIL3provided by HGNC
Official Full Name: piwi like RNA-mediated gene silencing 3provided by HGNC
Primary source: HGNC:HGNC:18443
See related: Ensembl:ENSG00000184571 MIM:610314; AllianceGenome:HGNC:18443
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HIWI3
Summary: This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 22q11.23

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (24719034..24774720, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (25180480..25236180, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (25115001..25170687, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PIWIL3 was also a target of CEBPA, forming a positive feedback loop in the growth regulation of glioma cells. Significantly, knockdown of OIP5-AS1 combined with over-expression of PIWIL3 and miR-367-3p resulted in tumor regression and extended survival in vivo.
Title: PIWIL3/OIP5-AS1/miR-367-3p/CEBPA feedback loop regulates the biological behavior of glioma cells.
overexpression of Piwil3 promotes the proliferation, migration and invasion of GC cells partially through JAK2/STAT3 signal pathway.
Title: Downregulation of Piwil3 suppresses cell proliferation, migration and invasion in gastric cancer.
Our data indicate that PIWIL3 protein expression is elevated in more aggressive primary malignant melanoma(MM )and metastatic disease. As also observed in other malignancies, PIWIL3 seems to play a role in MM progression.
Title: Expression of PIWIL3 in primary and metastatic melanoma.
individuals with HIWI3 non-synonymous rs11703684 variant genotypes exhibited a significantly reduced oligozoospermia risk
Title: Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.
PIWIL3 proteins were expressed in the cytoplasma of human astrocytic glioma and meningioma.
Title: [Preparation and distribution of polyclonal antibodies against human PIWIL3 protein in tumor tissues].

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables piRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in regulatory ncRNA-mediated gene silencing	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: piwi-like protein 3

Names: piwi-like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001008496.3 → NP_001008496.2 piwi-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_001008496.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AB079368, AP000359

Consensus CDS

CCDS33623.1

UniProtKB/Swiss-Prot

Q7Z3Z3

UniProtKB/TrEMBL

B4DYF7

Related

ENSP00000330031.5, ENST00000332271.9

Conserved Domains (3) summary

cd02845
Location:278 → 408

PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...

cd04658
Location:416 → 865

Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...

pfam16486
Location:119 → 225

ArgoN; N-terminal domain of argonaute
NM_001255975.1 → NP_001242904.1 piwi-like protein 3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AK302409, AP000358, AP000359

Consensus CDS

CCDS93133.1

UniProtKB/TrEMBL

A0A8J9G8U8, B4DYF7

Related

ENSP00000479524.2, ENST00000616349.5

Conserved Domains (3) summary

cd02845
Location:278 → 408

PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...

cd04658
Location:416 → 856

Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...

pfam16486
Location:119 → 225

ArgoN; N-terminal domain of argonaute

RNA

NR_045648.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP000358, AP000359, BC144696

Related

ENST00000533313.6
NR_045649.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP000358, AP000359

Related

ENST00000527701.6