SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000495 
UniProt Accession
Theoretical PI
9.46  
Molecular Weight
98603 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
PIWIL1 
Gene Synonyms/Alias
HIWI 
Protein Name
Piwi-like protein 1 
Protein Synonyms/Alias
 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:12;130822432-130857182;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
Gln54Arg and [Trp8Ile; I15Thr] variants in the LHbeta gene were not associated with male infertility, whereas the Gly102Ser variant might be implicated in infertility in some Singapore Chinese men. 
The information of related literatures
1. D. Qiao, A. M. Zeeman, W. Deng, L. H. Looijenga and H. Lin (2002) Molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomas. Oncogene 21(25): 3988-99. 

Abstract
The piwi family genes are highly conserved during evolution and play essential roles in stem cell self-renewal, gametogenesis, and RNA interference in diverse organisms ranging from Drosophila melanogaster and C. elegans to Arabidopsis. Here we report the molecular characterization of hiwi, a human member of the piwi gene family. hiwi maps to the long arm of chromosome 12, band 12q24.33, a genomic region that displays genetic linkage to the development of testicular germ cell tumors of adolescents and adults (TGCTs), i.e., seminomas and nonseminomas. In addition, gain of this chromosomal region has been found in some TGCTs. hiwi encodes a 3.6 kb mRNA that is expressed abundantly in the adult testis. It encodes a highly basic 861-amino-acid protein that shares significant homology throughout its entire length with other members of the PIWI family proteins in Drosophila, C. elegans and mammals. In normal human testes, hiwi is specifically expressed in germline cells, with its expression detectable in spermatocytes and round spermatids during spermatogenesis. No expresssion was observed in testicular tumors of somatic origin, such as Sertoli cell and Leydig cell tumors. Enhanced expression was found in 12 out of 19 sampled testicular seminomas-tumors originating from embryonic germ cells with retention of germ cell phenotype. In contrast, no enhanced expression was detected in 10 nonseminomas-testicular tumors that originate from the same precursor cells as seminomas yet have lost their germ cell characteristics. Finally, no enhanced expression was detected in four spermatocytic seminomas-testicular tumors that most likely originate from germ cells capable of partial meiosis. Thus, hiwi is specifically expressed in both normal and malignant spermatogenic cells in a maturation stage-dependent pattern, in which it might function in germ cell proliferation. PMID: [12037681] 

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Figures for illustrating the function of this protein/gene
Ref: D. Qiao, A. M. Zeeman, W. Deng, L. H. Looijenga and H. Lin (2002) Molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomas. Oncogene 21(25): 3988-99. PMID: [12037681]
Ref: D. Qiao, A. M. Zeeman, W. Deng, L. H. Looijenga and H. Lin (2002) Molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomas. Oncogene 21(25): 3988-99. PMID: [12037681]
Function
Plays a central role during spermatogenesis byrepressing transposable elements and prevent their mobilization,which is essential for the germline integrity. Acts via the piRNAmetabolic process, which mediates the repression of transposableelements during meiosis by forming complexes composed of piRNAsand Piwi proteins and govern the methylation and subsequentrepression of transposons. Directly binds methylated piRNAs, aclass of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposonsand other repeated sequence elements. Besides their function intransposable elements repression, piRNAs are probably involved inother processes during meiosis such as translation regulation.Probable component of some RISC complex, which mediates RNAcleavage and translational silencing. Also plays a role in theformation of chromatoid bodies and is required for some miRNAsstability (By similarity). Isoform 3 may be a negativedevelopmental regulator. 
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Subcellular Location
Cytoplasm (By similarity). Note=Component ofthe meiotic nuage, also named P granule, a germ-cell-specificorganelle required to repress transposon during meiosis. Alsopresent in chromatoid body (By similarity). 
Tissue Specificity
Detected in most fetal and adult tissues.Expressed in testes, specifically in germline cells; detected inspermatocytes and spermatids during spermatogenesis. Increasedexpression in testicular tumors originating from embryonic germcells with retention of germ cells phenotype. No expression intesticular tumors of somatic origin, such as Sertoli cell andLeydig cell tumors. Overexpressed in gastric cancer cells. Isoform3 is ubiquitously expressed, and specifically in CD34+hematopoietic progenitor cells but not in more differentiatedcells. 
Gene Ontology
GO IDGO termEvidence
GO:0033391 C:chromatoid body ISS:UniProtKB.
GO:0005845 C:mRNA cap binding complex IEA:Compara.
GO:0043186 C:P granule ISS:UniProtKB.
GO:0005844 C:polysome IEA:Compara.
GO:0003729 F:mRNA binding ISS:UniProtKB.
GO:0034584 F:piRNA binding ISS:UniProtKB.
GO:0003727 F:single-stranded RNA binding IEA:Compara.
GO:0031047 P:gene silencing by RNA ISS:UniProtKB.
GO:0007126 P:meiosis IEA:UniProtKB-KW.
GO:0007275 P:multicellular organismal development IEA:UniProtKB-KW.
GO:0034587 P:piRNA metabolic process IEA:Compara.
GO:0006417 P:regulation of translation IEA:UniProtKB-KW.
GO:0007286 P:spermatid development ISS:UniProtKB.
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Interpro
IPR008625;    GAGE.
IPR003100;    PAZ.
IPR003165;    Piwi.
IPR012337;    RNaseH-like_dom.
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Pfam
PF05831;    GAGE;    1.
PF02170;    PAZ;    1.
PF02171;    Piwi;    1.
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SMART
SM00949;    PAZ;    1.
SM00950;    Piwi;    1.
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PROSITE
PS50821;    PAZ;    1.
PS50822;    PIWI;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    861       Piwi-like protein 1.
                             /FTId=PRO_0000234567.
DOMAIN      277    391       PAZ.
DOMAIN      555    847       Piwi.
REGION      316    318       Required for binding 2'-O-methylated 3'-
                             end of piRNAs.
REGION      540    677       RNA-binding (By similarity).
SITE        381    381       Required for binding 2'-O-methylated 3'-
                             end of piRNAs.
MOD_RES      14     14       Omega-N-methylarginine; by PRMT5;
                             alternate (By similarity).
MOD_RES      14     14       Symmetric dimethylarginine; by PRMT5;
                             alternate (By similarity).
MOD_RES      49     49       Omega-N-methylarginine; by PRMT5 (By
                             similarity).
MOD_RES     370    370       Omega-N-methylarginine; by PRMT5 (By
                             similarity).
VAR_SEQ       1     86       Missing (in isoform 3).
                             /FTId=VSP_018366.
VAR_SEQ      87     89       HDL -> MIF (in isoform 3).
                             /FTId=VSP_018367.
VAR_SEQ     824    829       GVIRVP -> VSASTC (in isoform 2).
                             /FTId=VSP_018368.
VAR_SEQ     830    861       Missing (in isoform 2).
                             /FTId=VSP_018369.
VARIANT     491    491       K -> N (in dbSNP:rs17856812).
                             /FTId=VAR_026288.
VARIANT     527    527       R -> K (in dbSNP:rs1106042).
                             /FTId=VAR_026289.
VARIANT     575    575       L -> P (in dbSNP:rs17852568).
                             /FTId=VAR_026290.
MUTAGEN     379    379       P->H: Impairs binding to 2'-O-methylated
                             3'-end of piRNAs; when associated with Y-
                             381.
MUTAGEN     381    381       M->Y: Impairs binding to 2'-O-methylated
                             3'-end of piRNAs; when associated with H-
                             379.
CONFLICT    178    178       V -> A (in Ref. 4; BAC04068).
CONFLICT    314    314       N -> I (in Ref. 2; AAC97371).
CONFLICT    339    339       E -> G (in Ref. 2; AAC97371).
CONFLICT    353    353       E -> K (in Ref. 6; BAF49084).
HELIX       279    285
HELIX       286    288
HELIX       292    303
STRAND      307    310
TURN        311    314
STRAND      316    318
STRAND      321    323
STRAND      331    333
STRAND      335    337
STRAND      339    341
HELIX       342    350
STRAND      361    364
STRAND      370    375
STRAND      380    382
HELIX       384    386
STRAND      387    389
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Nucleotide Sequence
Length: 2328 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 861 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
Other Protein-Protein interaction resources
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