UniProtKB - Q96J94 (PIWL1_HUMAN)
Piwi-like protein 1
PIWIL1
Functioni
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 381 | Required for binding 2'-O-methylated 3'-end of piRNAs1 Publication | 1 | |
Active sitei | 632 | By similarity | 1 | |
Active sitei | 670 | By similarity | 1 | |
Active sitei | 702 | By similarity | 1 | |
Active sitei | 836 | By similarity | 1 |
GO - Molecular functioni
- endoribonuclease activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- mRNA binding Source: UniProtKB
- mRNA cap binding complex binding Source: Ensembl
- piRNA binding Source: UniProtKB
- polysome binding Source: Ensembl
- protein kinase binding Source: Ensembl
- single-stranded RNA binding Source: Ensembl
GO - Biological processi
- gene silencing by RNA Source: UniProtKB
- meiotic cell cycle Source: UniProtKB-KW
- multicellular organism development Source: UniProtKB-KW
- negative regulation of transposition Source: UniProtKB
- piRNA metabolic process Source: UniProtKB
- regulation of translation Source: UniProtKB-KW
- spermatid development Source: UniProtKB
- spermatogenesis Source: UniProtKB
- spermatogenesis, exchange of chromosomal proteins Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, Endonuclease, Hydrolase, Nuclease, RNA-binding |
Biological process | Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis, Translation regulation |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96J94 |
Reactomei | R-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:PIWIL1 Synonyms:HIWI2 Publications |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000125207.7 |
HGNCi | HGNC:9007, PIWIL1 |
MIMi | 605571, gene |
neXtProti | NX_Q96J94 |
Subcellular locationi
Other locations
- Cytoplasm By similarity
Note: Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Also present in chromatoid body.By similarity
Nucleus
- nucleus Source: Ensembl
Other locations
- chromatoid body Source: UniProtKB
- cytoplasm Source: UniProtKB
- dense body Source: Ensembl
- P granule Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 379 | P → H: Impairs binding to 2'-O-methylated 3'-end of piRNAs; when associated with Y-381. 1 Publication | 1 | |
Mutagenesisi | 381 | M → Y: Impairs binding to 2'-O-methylated 3'-end of piRNAs; when associated with H-379. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 9271 |
OpenTargetsi | ENSG00000125207 |
PharmGKBi | PA33341 |
Miscellaneous databases
Pharosi | Q96J94, Tbio |
Polymorphism and mutation databases
BioMutai | PIWIL1 |
DMDMi | 74716803 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000234567 | 1 – 861 | Piwi-like protein 1Add BLAST | 861 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | Omega-N-methylarginine; by PRMT5; alternateBy similarity | 1 | |
Modified residuei | 14 | Symmetric dimethylarginine; by PRMT5; alternateBy similarity | 1 | |
Modified residuei | 49 | Omega-N-methylarginine; by PRMT5By similarity | 1 | |
Modified residuei | 53 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 53 | Symmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 370 | Omega-N-methylarginine; by PRMT5By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Methylation, Ubl conjugationProteomic databases
MassIVEi | Q96J94 |
PaxDbi | Q96J94 |
PeptideAtlasi | Q96J94 |
PRIDEi | Q96J94 |
ProteomicsDBi | 76913 [Q96J94-1] 76914 [Q96J94-2] 76915 [Q96J94-3] |
PTM databases
iPTMneti | Q96J94 |
PhosphoSitePlusi | Q96J94 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000125207, Expressed in testis and 112 other tissues |
ExpressionAtlasi | Q96J94, baseline and differential |
Genevisiblei | Q96J94, HS |
Organism-specific databases
HPAi | ENSG00000125207, Tissue enriched (testis) |
Interactioni
Subunit structurei
Interacts (via Piwi domain) with DICER1, suggesting that it forms ribonucleoprotein RISC complexes; this interaction is regulated by HSP90AB1 activity.
Interacts with MAEL, KIF17, PABPC1, PRMT5 and WDR77.
Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9.
Interacts with CLOCK.
Interacts with MOV10L1.
Interacts with ANAPC10; interaction oly takes place following piRNA-binding.
Interacts with RNF8; leading to sequester RNF8 in the cytoplasm.
Interacts with TEX19 (By similarity).
By similarityBinary interactionsi
Hide detailsGO - Molecular functioni
- protein kinase binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 114690, 8 interactors |
DIPi | DIP-33534N |
IntActi | Q96J94, 15 interactors |
STRINGi | 9606.ENSP00000245255 |
Miscellaneous databases
RNActi | Q96J94, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q96J94 |
SMRi | Q96J94 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96J94 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 277 – 391 | PAZPROSITE-ProRule annotationAdd BLAST | 115 | |
Domaini | 555 – 847 | PiwiPROSITE-ProRule annotationAdd BLAST | 293 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 316 – 318 | Required for binding 2'-O-methylated 3'-end of piRNAs1 Publication | 3 | |
Regioni | 479 – 615 | MID regionBy similarityAdd BLAST | 137 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 217 – 224 | D-box1 Publication | 8 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1042, Eukaryota |
GeneTreei | ENSGT00950000183200 |
HOGENOMi | CLU_008813_0_0_1 |
InParanoidi | Q96J94 |
OMAi | TPSMGIR |
OrthoDBi | 220258at2759 |
PhylomeDBi | Q96J94 |
TreeFami | TF354206 |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR014811, ArgoL1 IPR031320, GAGE IPR003100, PAZ_dom IPR036085, PAZ_dom_sf IPR003165, Piwi IPR031326, PIWIL1 IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf |
PANTHERi | PTHR22891:SF46, PTHR22891:SF46, 1 hit |
Pfami | View protein in Pfam PF08699, ArgoL1, 1 hit PF05831, GAGE, 1 hit PF02170, PAZ, 1 hit PF02171, Piwi, 1 hit |
SMARTi | View protein in SMART SM01379, GAGE, 1 hit SM00949, PAZ, 1 hit SM00950, Piwi, 1 hit |
SUPFAMi | SSF101690, SSF101690, 1 hit SSF53098, SSF53098, 1 hit |
PROSITEi | View protein in PROSITE PS50821, PAZ, 1 hit PS50822, PIWI, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTGRARARAR GRARGQETAQ LVGSTASQQP GYIQPRPQPP PAEGELFGRG
60 70 80 90 100
RQRGTAGGTA KSQGLQISAG FQELSLAERG GRRRDFHDLG VNTRQNLDHV
110 120 130 140 150
KESKTGSSGI IVRLSTNHFR LTSRPQWALY QYHIDYNPLM EARRLRSALL
160 170 180 190 200
FQHEDLIGKC HAFDGTILFL PKRLQQKVTE VFSKTRNGED VRITITLTNE
210 220 230 240 250
LPPTSPTCLQ FYNIIFRRLL KIMNLQQIGR NYYNPNDPID IPSHRLVIWP
260 270 280 290 300
GFTTSILQYE NSIMLCTDVS HKVLRSETVL DFMFNFYHQT EEHKFQEQVS
310 320 330 340 350
KELIGLVVLT KYNNKTYRVD DIDWDQNPKS TFKKADGSEV SFLEYYRKQY
360 370 380 390 400
NQEITDLKQP VLVSQPKRRR GPGGTLPGPA MLIPELCYLT GLTDKMRNDF
410 420 430 440 450
NVMKDLAVHT RLTPEQRQRE VGRLIDYIHK NDNVQRELRD WGLSFDSNLL
460 470 480 490 500
SFSGRILQTE KIHQGGKTFD YNPQFADWSK ETRGAPLISV KPLDNWLLIY
510 520 530 540 550
TRRNYEAANS LIQNLFKVTP AMGMQMRKAI MIEVDDRTEA YLRVLQQKVT
560 570 580 590 600
ADTQIVVCLL SSNRKDKYDA IKKYLCTDCP TPSQCVVART LGKQQTVMAI
610 620 630 640 650
ATKIALQMNC KMGGELWRVD IPLKLVMIVG IDCYHDMTAG RRSIAGFVAS
660 670 680 690 700
INEGMTRWFS RCIFQDRGQE LVDGLKVCLQ AALRAWNSCN EYMPSRIIVY
710 720 730 740 750
RDGVGDGQLK TLVNYEVPQF LDCLKSIGRG YNPRLTVIVV KKRVNTRFFA
760 770 780 790 800
QSGGRLQNPL PGTVIDVEVT RPEWYDFFIV SQAVRSGSVS PTHYNVIYDN
810 820 830 840 850
SGLKPDHIQR LTYKLCHIYY NWPGVIRVPA PCQYAHKLAF LVGQSIHREP
860
NLSLSNRLYY L
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H2F7 | F5H2F7_HUMAN | Piwi-like protein 1 | PIWIL1 | 172 | Annotation score: | ||
F5H3U6 | F5H3U6_HUMAN | Piwi-like protein 1 | PIWIL1 | 150 | Annotation score: | ||
F5H889 | F5H889_HUMAN | Piwi-like protein 1 | PIWIL1 | 165 | Annotation score: | ||
F5GZL9 | F5GZL9_HUMAN | Piwi-like protein 1 | PIWIL1 | 117 | Annotation score: | ||
F5GYG0 | F5GYG0_HUMAN | Piwi-like protein 1 | PIWIL1 | 122 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 178 | V → A in BAC04068 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 314 | N → I in AAC97371 (PubMed:12037681).Curated | 1 | |
Sequence conflicti | 339 | E → G in AAC97371 (PubMed:12037681).Curated | 1 | |
Sequence conflicti | 353 | E → K in BAF49084 (PubMed:17544373).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078965 | 217 | R → A Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_078966 | 220 | L → A Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_078967 | 220 | L → G Probable disease-associated variant found in a patient with azoospermia; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_078968 | 220 | L → R Probable disease-associated variant found in a patient with azoospermia. 1 Publication | 1 | |
Natural variantiVAR_078969 | 224 | N → H Probable disease-associated variant found in a patient with azoospermia. 1 Publication | 1 | |
Natural variantiVAR_026288 | 491 | K → N1 PublicationCorresponds to variant dbSNP:rs17856812Ensembl. | 1 | |
Natural variantiVAR_026289 | 527 | R → K1 PublicationCorresponds to variant dbSNP:rs1106042Ensembl. | 1 | |
Natural variantiVAR_026290 | 575 | L → P1 PublicationCorresponds to variant dbSNP:rs17852568Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_018366 | 1 – 86 | Missing in isoform 3. 1 PublicationAdd BLAST | 86 | |
Alternative sequenceiVSP_018367 | 87 – 89 | HDL → MIF in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_018368 | 824 – 829 | GVIRVP → VSASTC in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_018369 | 830 – 861 | Missing in isoform 2. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF264004 mRNA Translation: AAK92281.1 AF104260 mRNA Translation: AAC97371.2 AF387507 mRNA Translation: AAK69348.1 AK093133 mRNA Translation: BAC04068.1 BC028581 mRNA Translation: AAH28581.1 AB274731 mRNA Translation: BAF49084.1 |
CCDSi | CCDS9268.1 [Q96J94-1] |
RefSeqi | NP_001177900.1, NM_001190971.1 [Q96J94-2] NP_004755.2, NM_004764.4 [Q96J94-1] XP_011537304.1, XM_011539002.2 [Q96J94-1] XP_011537305.1, XM_011539003.2 [Q96J94-1] XP_011537306.1, XM_011539004.2 [Q96J94-1] |
Genome annotation databases
Ensembli | ENST00000245255; ENSP00000245255; ENSG00000125207 [Q96J94-1] ENST00000613226; ENSP00000481042; ENSG00000275051 [Q96J94-1] ENST00000632888; ENSP00000487688; ENSG00000275051 [Q96J94-2] |
GeneIDi | 9271 |
KEGGi | hsa:9271 |
UCSCi | uc001uik.4, human [Q96J94-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF264004 mRNA Translation: AAK92281.1 AF104260 mRNA Translation: AAC97371.2 AF387507 mRNA Translation: AAK69348.1 AK093133 mRNA Translation: BAC04068.1 BC028581 mRNA Translation: AAH28581.1 AB274731 mRNA Translation: BAF49084.1 |
CCDSi | CCDS9268.1 [Q96J94-1] |
RefSeqi | NP_001177900.1, NM_001190971.1 [Q96J94-2] NP_004755.2, NM_004764.4 [Q96J94-1] XP_011537304.1, XM_011539002.2 [Q96J94-1] XP_011537305.1, XM_011539003.2 [Q96J94-1] XP_011537306.1, XM_011539004.2 [Q96J94-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2L5C | NMR | - | A | 266-399 | [»] | |
2L5D | NMR | - | A | 266-399 | [»] | |
3O3I | X-ray | 2.80 | X | 277-399 | [»] | |
3O6E | X-ray | 2.90 | X | 277-399 | [»] | |
3O7V | X-ray | 2.10 | X | 276-399 | [»] | |
6PI7 | X-ray | 2.80 | G | 2-17 | [»] | |
BMRBi | Q96J94 | |||||
SMRi | Q96J94 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114690, 8 interactors |
DIPi | DIP-33534N |
IntActi | Q96J94, 15 interactors |
STRINGi | 9606.ENSP00000245255 |
PTM databases
iPTMneti | Q96J94 |
PhosphoSitePlusi | Q96J94 |
Polymorphism and mutation databases
BioMutai | PIWIL1 |
DMDMi | 74716803 |
Proteomic databases
MassIVEi | Q96J94 |
PaxDbi | Q96J94 |
PeptideAtlasi | Q96J94 |
PRIDEi | Q96J94 |
ProteomicsDBi | 76913 [Q96J94-1] 76914 [Q96J94-2] 76915 [Q96J94-3] |
Protocols and materials databases
Antibodypediai | 31942, 277 antibodies |
Genome annotation databases
Ensembli | ENST00000245255; ENSP00000245255; ENSG00000125207 [Q96J94-1] ENST00000613226; ENSP00000481042; ENSG00000275051 [Q96J94-1] ENST00000632888; ENSP00000487688; ENSG00000275051 [Q96J94-2] |
GeneIDi | 9271 |
KEGGi | hsa:9271 |
UCSCi | uc001uik.4, human [Q96J94-1] |
Organism-specific databases
CTDi | 9271 |
DisGeNETi | 9271 |
EuPathDBi | HostDB:ENSG00000125207.7 |
GeneCardsi | PIWIL1 |
HGNCi | HGNC:9007, PIWIL1 |
HPAi | ENSG00000125207, Tissue enriched (testis) |
MIMi | 605571, gene |
neXtProti | NX_Q96J94 |
OpenTargetsi | ENSG00000125207 |
PharmGKBi | PA33341 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1042, Eukaryota |
GeneTreei | ENSGT00950000183200 |
HOGENOMi | CLU_008813_0_0_1 |
InParanoidi | Q96J94 |
OMAi | TPSMGIR |
OrthoDBi | 220258at2759 |
PhylomeDBi | Q96J94 |
TreeFami | TF354206 |
Enzyme and pathway databases
PathwayCommonsi | Q96J94 |
Reactomei | R-HSA-5601884, PIWI-interacting RNA (piRNA) biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 9271, 5 hits in 846 CRISPR screens |
ChiTaRSi | PIWIL1, human |
EvolutionaryTracei | Q96J94 |
GeneWikii | PIWIL1 |
GenomeRNAii | 9271 |
Pharosi | Q96J94, Tbio |
PROi | PR:Q96J94 |
RNActi | Q96J94, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125207, Expressed in testis and 112 other tissues |
ExpressionAtlasi | Q96J94, baseline and differential |
Genevisiblei | Q96J94, HS |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR014811, ArgoL1 IPR031320, GAGE IPR003100, PAZ_dom IPR036085, PAZ_dom_sf IPR003165, Piwi IPR031326, PIWIL1 IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf |
PANTHERi | PTHR22891:SF46, PTHR22891:SF46, 1 hit |
Pfami | View protein in Pfam PF08699, ArgoL1, 1 hit PF05831, GAGE, 1 hit PF02170, PAZ, 1 hit PF02171, Piwi, 1 hit |
SMARTi | View protein in SMART SM01379, GAGE, 1 hit SM00949, PAZ, 1 hit SM00950, Piwi, 1 hit |
SUPFAMi | SSF101690, SSF101690, 1 hit SSF53098, SSF53098, 1 hit |
PROSITEi | View protein in PROSITE PS50821, PAZ, 1 hit PS50822, PIWI, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIWL1_HUMAN | |
Accessioni | Q96J94Primary (citable) accession number: Q96J94 Secondary accession number(s): A4F266 Q96JD5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 142 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations