• Gene id: 9271

Gene Summary

• Gene Symbol: PIWIL1   Gene   UCSC   Ensembl
• Aliases: CT80.1, HIWI, MIWI, PIWI
• Gene name: piwi like RNA-mediated gene silencing 1
• Alternate names: piwi-like protein 1, piwi homolog,
• Gene location: 12q24.33 (130337886: 130412707)     Exons: 24     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organ
• OMIM: 605571

SNPs

rs1106042

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

NC_000012.12   g.130357093G>A
NC_000012.11   g.130841638G>A
NT_187589.1   g.34018G>A
NM_004764.4   c.1580G>A
NM_004764.5   c.1580G>A
XM_011539004.3   c.1580G>A
XM_011539002.3   c.1580G>A
XM_011539003.3   c.1580G>A
XM_011539006.3   c.440G>A
XM_011539005.1   c.1580G>A
XM_  

Protein Summary

• Protein general information: Q96J94  
  • Name: Piwi like protein 1 (EC 3.1.26. )
  • Length: 861  
  • Mass: 98,603
• Sequence:

  MTGRARARARGRARGQETAQLVGSTASQQPGYIQPRPQPPPAEGELFGRGRQRGTAGGTAKSQGLQISAGFQELS
  LAERGGRRRDFHDLGVNTRQNLDHVKESKTGSSGIIVRLSTNHFRLTSRPQWALYQYHIDYNPLMEARRLRSALL
  FQHEDLIGKCHAFDGTILFLPKRLQQKVTEVFSKTRNGEDVRITITLTNELPPTSPTCLQFYNIIFRRLLKIMNL
  QQIGRNYYNPNDPIDIPSHRLVIWPGFTTSILQYENSIMLCTDVSHKVLRSETVLDFMFNFYHQTEEHKFQEQVS
  KELIGLVVLTKYNNKTYRVDDIDWDQNPKSTFKKADGSEVSFLEYYRKQYNQEITDLKQPVLVSQPKRRRGPGGT
  LPGPAMLIPELCYLTGLTDKMRNDFNVMKDLAVHTRLTPEQRQREVGRLIDYIHKNDNVQRELRDWGLSFDSNLL
  SFSGRILQTEKIHQGGKTFDYNPQFADWSKETRGAPLISVKPLDNWLLIYTRRNYEAANSLIQNLFKVTPAMGMQ
  MRKAIMIEVDDRTEAYLRVLQQKVTADTQIVVCLLSSNRKDKYDAIKKYLCTDCPTPSQCVVARTLGKQQTVMAI
  ATKIALQMNCKMGGELWRVDIPLKLVMIVGIDCYHDMTAGRRSIAGFVASINEGMTRWFSRCIFQDRGQELVDGL
  KVCLQAALRAWNSCNEYMPSRIIVYRDGVGDGQLKTLVNYEVPQFLDCLKSIGRGYNPRLTVIVVKKRVNTRFFA
  QSGGRLQNPLPGTVIDVEVTRPEWYDFFIVSQAVRSGSVSPTHYNVIYDNSGLKPDHIQRLTYKLCHIYYNWPGV
  IRVPAPCQYAHKLAFLVGQSIHREPNLSLSNRLYYL

• Structural information:
  • Protein Domains: PAZ. (277-391)
    Piwi. (555-847)
  • Interpro: IPR014811  IPR031320  IPR003100  IPR036085  IPR003165   IPR031326  IPR012337  IPR036397  
  • Prosite: PS50821 PS50822
  • PDB: 2L5C 2L5D 3O3I 3O6E 3O7V
  • PDBsum: 2L5C 2L5D 3O3I 3O6E 3O7V
  • DIP: 33534
  • STRING: ENSP00000245255
• Other Databases: GeneCards:  PIWIL1  Malacards:  PIWIL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003727	single-stranded RNA binding	IEA	molecular function
GO:0003729	mRNA binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0005845	mRNA cap binding complex	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	ISS	molecular function
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0043186	P granule	ISS	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0097433	dense body	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003727	single-stranded RNA binding	IEA	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0003729	mRNA binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0005845	mRNA cap binding complex	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:0007283	spermatogenesis	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	IEA	molecular function
GO:0034584	piRNA binding	IEA	molecular function
GO:0034584	piRNA binding	ISS	molecular function
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0043186	P granule	ISS	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0097433	dense body	IEA	cellular component
GO:0003729	mRNA binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0007286	spermatid development	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	ISS	molecular function
GO:0043186	P granule	ISS	cellular component

Diseases

Associated diseases	References
Cancer (esophageal)	GAD: 19138993
Cancer (Renal cell)	GAD: 19047128
Cancer	GAD: 19047128
Azoospermia	MIK: 20940137
Spermatogenesis defects	MIK: 24524831
Male factor infertility	MIK: 24524831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 12062093
Male infertility	MIK: 24524831
Non obstructive azoospermia	MIK: 23869807
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Regulator of gamete development	MIK: 28884822

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24524831	Male infertility, Spermatogenetic defects			40 (30 infertile men with normal CFTR and AZF tests and karyotype, 10 fertile male controls)	Male infertility
16938833	Plays a role in regulating spermatogenesis				Male infertility
28884822	Regulator of gamete development				Male infertility
12062093	Essential for spermiogenesis				Male infertility
28552346	Spermiogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq