• Gene id: 440822

Gene Summary

• Gene Symbol: PIWIL3   Gene   UCSC   Ensembl
• Aliases: HIWI3
• Gene name: piwi like RNA-mediated gene silencing 3
• Alternate names: piwi-like protein 3, piwi-like 3,
• Gene location: 22q11.23 (24774719: 24719033)     Exons: 23     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 610314

SNPs

rs11703684

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.24748945C>G
NC_000022.11   g.24748945C>T
NC_000022.10   g.25144912C>G
NC_000022.10   g.25144912C>T
NM_001008496.3   c.1411G>C
NM_001008496.3   c.1411G>A
NR_045648.1   n.2042G>C
NR_045648.1   n.2042G>A
NR_045649.1   n.1915A>G
NR_045649.1   n.1915A>C
NM_0  

Protein Summary

• Protein general information: Q7Z3Z3  
  • Name: Piwi like protein 3
  • Length: 882  
  • Mass: 101,089
• Sequence:

  MPGRARTRARGRARRRESYQQEAPGGPRAPGSATTQEPPQLQSTPRPLQEEVPVVRPLQPRAARGGAGGGAQSQG
  VKEPGPEAGLHTAPLQERRIGGVFQDLVVNTRQDMKHVKDSKTGSEGTVVQLLANHFRVISRPQWVAYKYNVDYK
  PDIEDGNLRTILLDQHRRKFGERHIFDGNSLLLSRPLKERRVEWLSTTKDKNIVKITVEFSKELTPTSPDCLRYY
  NILFRRTFKLLDFEQVGRNYYTKKKAIQLYRHGTSLEIWLGYVTSVLQYENSITLCADVSHKLLRIETAYDFIKR
  TSAQAQTGNIREEVTNKLIGSIVLTKYNNKTYRVDDIDWKQNPEDTFNKSDGSKITYIDYYRQQHKEIVTVKKQP
  LLVSQGRWKKGLTGTQREPILLIPQLCHMTGLTDEICKDYSIVKELAKHTRLSPRRRHHTLKEFINTLQDNKKVR
  ELLQLWDLKFDTNFLSVPGRVLKNANIVQGRRMVKANSQGDWSREIRELPLLNAMPLHSWLILYSRSSHREAMSL
  KGHLQSVTAPMGITMKPAEMIEVDGDANSYIDTLRKYTRPTLQMGMSCLLVFKVICILPNDDKRRYDSIKRYLCT
  KCPIPSQCVVKKTLEKVQARTIVTKIAQQMNCKMGGALWKVETDVQRTMFVGIDCFHDIVNRQKSIAGFVASTNA
  ELTKWYSQCVIQKTGEELVKELEICLKAALDVWCKNESSMPHSVIVYRDGVGDGQLQALLDHEAKKMSTYLKTIS
  PNNFTLAFIVVKKRINTRFFLKHGSNFQNPPPGTVIDVELTRNEWYDFFIVSQSVQDGTVTPTHYNVIYDTIGLS
  PDTVQRLTYCLCHMYYNLPGIIRVPAPCHYAHKLAYLVGQSIHQEPNRSLSTRLFYL

• Structural information:
  • Protein Domains: PAZ. (289-406)
    Piwi. (578-868)
  • Interpro: IPR003100  IPR036085  IPR003165  IPR012337  IPR036397  
  • Prosite: PS50821 PS50822
  • STRING: ENSP00000330031
• Other Databases: GeneCards:  PIWIL3  Malacards:  PIWIL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 20940137
Oligozoospermia	MIK: 20940137
Azoospermia	MIK: 20940137
Cryptorchidism	MIK: 28606200
Spermatogenic failure	MIK: 20940137
Azoospermia	MIK: 20940137
Oligozoospermia	MIK: 20940137

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20940137	Spermatogenic failure, azoospermia, oligozoospermia	HIWI2 (rs508485), HIWI3 non-synonymous (rs11703684)		958 (490 patients with idiopathic azoospermia or oligozoospermia, 468 fertile controls)	Male infertility	PIWIL3/HIWI3
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq