PIWIL3 (piwi like RNA-mediated gene silencing 3)

Gene

• Entrez ID: 440822
• Gene name: Piwi like RNA-mediated gene silencing 3
• Gene symbol: PIWIL3
• Synonyms (NCBI Gene): HIWI3
• Chromosome: 22
• Chromosome location: 22q11.23
• 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 fun

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1237069	hsa-miR-3148	CLIP-seq
MIRT1237070	hsa-miR-3170	CLIP-seq
MIRT1237071	hsa-miR-342-5p	CLIP-seq
MIRT1237072	hsa-miR-4651	CLIP-seq
MIRT1237073	hsa-miR-4664-5p	CLIP-seq
MIRT1237074	hsa-miR-4704-3p	CLIP-seq
MIRT1237075	hsa-miR-608	CLIP-seq
MIRT2069718	hsa-miR-1324	CLIP-seq
MIRT2069719	hsa-miR-370	CLIP-seq
MIRT2069720	hsa-miR-3942-3p	CLIP-seq
MIRT2069721	hsa-miR-3977	CLIP-seq
MIRT2069722	hsa-miR-4793-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28025795
GO:0005737	Component	Cytoplasm	IDA	28025795
GO:0005737	Component	Cytoplasm	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IBA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0034584	Function	PiRNA binding	IBA
GO:0034587	Process	PiRNA processing	IBA
GO:0043186	Component	P granule	IBA
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 610314
• HGNC: 18443
• e!Ensembl: ENSG00000184571

Protein

• UniProt ID: Q7Z3Z3
• Protein name: Piwi-like protein 3
• Protein function: May play a 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 elem
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02170	PAZ	292 → 428	PAZ domain	Domain
  PF02171	Piwi	578 → 868	Piwi domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:12906857}.
• Sequence:

  MPGRARTRARGRARRRESYQQEAPGGPRAPGSATTQEPPQLQSTPRPLQEEVPVVRPLQP
  RAARGGAGGGAQSQGVKEPGPEAGLHTAPLQERRIGGVFQDLVVNTRQDMKHVKDSKTGS
  EGTVVQLLANHFRVISRPQWVAYKYNVDYKPDIEDGNLRTILLDQHRRKFGERHIFDGNS
  LLLSRPLKERRVEWLSTTKDKNIVKITVEFSKELTPTSPDCLRYYNILFRRTFKLLDFEQ
  VGRNYYTKKKAIQLYRHGTSLEIWLGYVTSVLQYENSITLCADVSHKLLRIETAYDFIKR
  TSAQAQTGNIREEVTNKLIGSIVLTKYNNKTYRVDDIDWKQNPEDTFNKSDGSKITYIDY
  YRQQHKEIVTVKKQPLLVSQGRWKKGLTGTQREPILLIPQLCHMTGLTDEICKDYSIVKE
  LAKHTRLSPRRRHHTLKEFINTLQDNKKVRELLQLWDLKFDTNFLSVPGRVLKNANIVQG
  RRMVKANSQGDWSREIRELPLLNAMPLHSWLILYSRSSHREAMSLKGHLQSVTAPMGITM
  KPAEMIEVDGDANSYIDTLRKYTRPTLQMGMSCLLVFKVICILPNDDKRRYDSIKRYLCT
  KCPIPSQCVVKKTLEKVQARTIVTKIAQQMNCKMGGALWKVETDVQRTMFVGIDCFHDIV
  NRQKSIAGFVASTNAELTKWYSQCVIQKTGEELVKELEICLKAALDVWCKNESSMPHSVI
  VYRDGVGDGQLQALLDHEAKKMSTYLKTISPNNFTLAFIVVKKRINTRFFLKHGSNFQNP
  PPGTVIDVELTRNEWYDFFIVSQSVQDGTVTPTHYNVIYDTIGLSPDTVQRLTYCLCHMY
  YNLPGIIRVPAPCHYAHKLAYLVGQSIHQEPNRSLSTRLFYL

• Sequence length: 882

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLON CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	27177224	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24440970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24509249	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	29286006, 29317647	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28869440		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28094937		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27858163		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27858163		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27858163, 28869440		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	20940137		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CTD_human_DG	20940137		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22748119	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28869440		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22670175	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40729068	Associate	★☆☆☆☆ Found in Text Mining only