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Protein

Piwi-like protein 4

Gene

PIWIL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements (By similarity). Associates with secondary piRNAs antisense and PIWIL2/MILI is required for such association (By similarity). The piRNA process acts upstream of known mediators of DNA methylation (By similarity). Does not show endonuclease activity (By similarity). Plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a 'slicer-incompetent' component that loads cleaved piRNAs from the 'slicer-competent' component PIWIL2 and target them on genomic transposon loci in the nucleus (By similarity). May be involved in the chromatin-modifying pathway by inducing 'Lys-9' methylation of histone H3 at some loci (PubMed:17544373).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis, Translation regulation

Enzyme and pathway databases

ReactomeiR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Piwi-like protein 4
Gene namesi
Name:PIWIL4
Synonyms:HIWI2, PIWI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000134627.11
HGNCiHGNC:18444 PIWIL4
MIMi610315 gene
neXtProtiNX_Q7Z3Z4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi143689
OpenTargetsiENSG00000134627
PharmGKBiPA38333

Polymorphism and mutation databases

BioMutaiPIWIL4
DMDMi116242716

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345721 – 852Piwi-like protein 4Add BLAST852

Post-translational modificationi

Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule.By similarity

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ7Z3Z4
PaxDbiQ7Z3Z4
PeptideAtlasiQ7Z3Z4
PRIDEiQ7Z3Z4
ProteomicsDBi69101
69102 [Q7Z3Z4-2]
69103 [Q7Z3Z4-3]

PTM databases

iPTMnetiQ7Z3Z4
PhosphoSitePlusiQ7Z3Z4

Expressioni

Tissue specificityi

Expressed in testis. According to PubMed:17544373, it is ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000134627 Expressed in 170 organ(s), highest expression level in bone marrow
CleanExiHS_PIWIL4
ExpressionAtlasiQ7Z3Z4 baseline and differential
GenevisibleiQ7Z3Z4 HS

Organism-specific databases

HPAiHPA036587
HPA036588
HPA057508

Interactioni

Subunit structurei

Interacts with PRMT5 and WDR77. Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2 and TDRD9. Interacts with MOV10L1.By similarity

Protein-protein interaction databases

BioGridi126818, 2 interactors
IntActiQ7Z3Z4, 14 interactors
STRINGi9606.ENSP00000299001

Structurei

3D structure databases

ProteinModelPortaliQ7Z3Z4
SMRiQ7Z3Z4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini268 – 384PAZPROSITE-ProRule annotationAdd BLAST117
Domaini546 – 838PiwiPROSITE-ProRule annotationAdd BLAST293

Sequence similaritiesi

Belongs to the argonaute family. Piwi subfamily.Curated

Phylogenomic databases

eggNOGiKOG1042 Eukaryota
ENOG410XNRH LUCA
GeneTreeiENSGT00760000119148
HOGENOMiHOG000254789
HOVERGENiHBG049411
InParanoidiQ7Z3Z4
KOiK02156
OMAiMQDHICQ
OrthoDBiEOG091G020J
PhylomeDBiQ7Z3Z4
TreeFamiTF354206

Family and domain databases

Gene3Di3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR003100 PAZ_dom
IPR036085 PAZ_dom_sf
IPR003165 Piwi
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
PfamiView protein in Pfam
PF02170 PAZ, 1 hit
PF02171 Piwi, 1 hit
SMARTiView protein in SMART
SM00949 PAZ, 1 hit
SM00950 Piwi, 1 hit
SUPFAMiSSF101690 SSF101690, 1 hit
SSF53098 SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS50821 PAZ, 1 hit
PS50822 PIWI, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z3Z4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS
60 70 80 90 100
RISTNDKYGI SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG
110 120 130 140 150
SSGIPVKLVT NLFNLDFPQD WQLYQYHVTY IPDLASRRLR IALLYSHSEL
160 170 180 190 200
SNKAKAFDGA ILFLSQKLEE KVTELSSETQ RGETIKMTIT LKRELPSSSP
210 220 230 240 250
VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL SLWPGFAISV
260 270 280 290 300
SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL
310 320 330 340 350
IVLTRYNNRT YSIDDIDWSV KPTHTFQKRD GTEITYVDYY KQQYDITVSD
360 370 380 390 400
LNQPMLVSLL KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA
410 420 430 440 450
EKTRLSPSGR QQRLARLVDN IQRNTNARFE LETWGLHFGS QISLTGRIVP
460 470 480 490 500
SEKILMQDHI CQPVSAADWS KDIRTCKILN AQSLNTWLIL CSDRTEYVAE
510 520 530 540 550
SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV DPDVQLVMCI
560 570 580 590 600
LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT
610 620 630 640 650
CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF
660 670 680 690 700
SRCILQRTMT DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL
710 720 730 740 750
KTLIEYEVPQ LLSSVAESSS NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP
760 770 780 790 800
PLGTVVDSEA TRNEWYDFYL ISQVACRGTV SPTYYNVIYD DNGLKPDHMQ
810 820 830 840 850
RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE PSLELANHLF

YL
Length:852
Mass (Da):96,589
Last modified:October 17, 2006 - v2
Checksum:i37769EE078B96D13
GO
Isoform 2 (identifier: Q7Z3Z4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MSGRARVKARGIARSPSATEVGRIQASPL → MG
     522-522: I → M
     523-852: Missing.

Show »
Length:495
Mass (Da):56,442
Checksum:i41496B6996BF9BA3
GO
Isoform 3 (identifier: Q7Z3Z4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: Missing.
     522-522: I → M
     523-852: Missing.

Note: No experimental confirmation available.
Show »
Length:453
Mass (Da):52,174
Checksum:i24A10ED388F6BD36
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H116F5H116_HUMAN
Piwi-like protein 4
PIWIL4
203Annotation score:
F5GX26F5GX26_HUMAN
Piwi-like protein 4
PIWIL4
118Annotation score:

Sequence cautioni

The sequence BAC04873 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH18436 differs from that shown. Reason: Frameshift at position 454.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti99T → A in BAC81341 (PubMed:12906857).Curated1
Sequence conflicti153K → E in BAC04179 (PubMed:14702039).Curated1
Sequence conflicti510A → T in BAC04873 (PubMed:14702039).Curated1
Sequence conflicti701K → E in BAC04179 (PubMed:14702039).Curated1
Sequence conflicti719S → G in BAC04179 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02836778Q → R. Corresponds to variant dbSNP:rs12276921Ensembl.1
Natural variantiVAR_055533167K → R. Corresponds to variant dbSNP:rs12272255Ensembl.1
Natural variantiVAR_026291327Q → L1 PublicationCorresponds to variant dbSNP:rs11020845Ensembl.1
Natural variantiVAR_061025370A → P1 PublicationCorresponds to variant dbSNP:rs57607909Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0366651 – 69Missing in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_0210311 – 29MSGRA…QASPL → MG in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_021032522I → M in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_021033523 – 852Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST330

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB079366 mRNA Translation: BAC81341.1
AK093475 mRNA Translation: BAC04179.1
AK096837 mRNA Translation: BAC04873.1 Different initiation.
AK293616 mRNA Translation: BAG57076.1
CR749642 mRNA Translation: CAH18436.1 Frameshift.
BC031060 mRNA Translation: AAH31060.1
CCDSiCCDS31656.1 [Q7Z3Z4-1]
RefSeqiNP_689644.2, NM_152431.2 [Q7Z3Z4-1]
UniGeneiHs.660188

Genome annotation databases

EnsembliENST00000299001; ENSP00000299001; ENSG00000134627 [Q7Z3Z4-1]
ENST00000446230; ENSP00000413838; ENSG00000134627 [Q7Z3Z4-2]
ENST00000543336; ENSP00000444575; ENSG00000134627 [Q7Z3Z4-3]
GeneIDi143689
KEGGihsa:143689
UCSCiuc001pfa.3 human [Q7Z3Z4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB079366 mRNA Translation: BAC81341.1
AK093475 mRNA Translation: BAC04179.1
AK096837 mRNA Translation: BAC04873.1 Different initiation.
AK293616 mRNA Translation: BAG57076.1
CR749642 mRNA Translation: CAH18436.1 Frameshift.
BC031060 mRNA Translation: AAH31060.1
CCDSiCCDS31656.1 [Q7Z3Z4-1]
RefSeqiNP_689644.2, NM_152431.2 [Q7Z3Z4-1]
UniGeneiHs.660188

3D structure databases

ProteinModelPortaliQ7Z3Z4
SMRiQ7Z3Z4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126818, 2 interactors
IntActiQ7Z3Z4, 14 interactors
STRINGi9606.ENSP00000299001

PTM databases

iPTMnetiQ7Z3Z4
PhosphoSitePlusiQ7Z3Z4

Polymorphism and mutation databases

BioMutaiPIWIL4
DMDMi116242716

Proteomic databases

EPDiQ7Z3Z4
PaxDbiQ7Z3Z4
PeptideAtlasiQ7Z3Z4
PRIDEiQ7Z3Z4
ProteomicsDBi69101
69102 [Q7Z3Z4-2]
69103 [Q7Z3Z4-3]

Protocols and materials databases

DNASUi143689
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299001; ENSP00000299001; ENSG00000134627 [Q7Z3Z4-1]
ENST00000446230; ENSP00000413838; ENSG00000134627 [Q7Z3Z4-2]
ENST00000543336; ENSP00000444575; ENSG00000134627 [Q7Z3Z4-3]
GeneIDi143689
KEGGihsa:143689
UCSCiuc001pfa.3 human [Q7Z3Z4-1]

Organism-specific databases

CTDi143689
DisGeNETi143689
EuPathDBiHostDB:ENSG00000134627.11
GeneCardsiPIWIL4
H-InvDBiHIX0079403
HGNCiHGNC:18444 PIWIL4
HPAiHPA036587
HPA036588
HPA057508
MIMi610315 gene
neXtProtiNX_Q7Z3Z4
OpenTargetsiENSG00000134627
PharmGKBiPA38333
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1042 Eukaryota
ENOG410XNRH LUCA
GeneTreeiENSGT00760000119148
HOGENOMiHOG000254789
HOVERGENiHBG049411
InParanoidiQ7Z3Z4
KOiK02156
OMAiMQDHICQ
OrthoDBiEOG091G020J
PhylomeDBiQ7Z3Z4
TreeFamiTF354206

Enzyme and pathway databases

ReactomeiR-HSA-5601884 PIWI-interacting RNA (piRNA) biogenesis

Miscellaneous databases

ChiTaRSiPIWIL4 human
GenomeRNAii143689
PROiPR:Q7Z3Z4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134627 Expressed in 170 organ(s), highest expression level in bone marrow
CleanExiHS_PIWIL4
ExpressionAtlasiQ7Z3Z4 baseline and differential
GenevisibleiQ7Z3Z4 HS

Family and domain databases

Gene3Di3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR003100 PAZ_dom
IPR036085 PAZ_dom_sf
IPR003165 Piwi
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
PfamiView protein in Pfam
PF02170 PAZ, 1 hit
PF02171 Piwi, 1 hit
SMARTiView protein in SMART
SM00949 PAZ, 1 hit
SM00950 Piwi, 1 hit
SUPFAMiSSF101690 SSF101690, 1 hit
SSF53098 SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS50821 PAZ, 1 hit
PS50822 PIWI, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIWL4_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3Z4
Secondary accession number(s): B4DEG5
, Q68CZ4, Q8N8G9, Q8N9V8, Q8NEH2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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