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Q7Z3Z4 (PIWL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Piwi-like protein 4
Gene names
Name:PIWIL4
Synonyms:HIWI2, PIWI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length852 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. 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. 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. Associates with secondary piRNAs antisense and PIWIL2/MILI is required for such association. The piRNA process acts upstream of known mediators of DNA methylation. Participates in a piRNA amplification loop. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation By similarity. May be involved in the chromatin-modifying pathway by inducing 'Lys-9' methylation of histone H3 at some loci. Ref.1 Ref.5

Subunit structure

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

Subcellular location

Nucleus By similarity. Cytoplasm By similarity. Note: Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. PIWIL2/MILI is required for nuclear localization By similarity.

Tissue specificity

Expressed in testis. According to Ref.5, it is ubiquitously expressed. Ref.5

Post-translational modification

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.

Sequence similarities

Belongs to the argonaute family. Piwi subfamily.

Contains 1 PAZ domain.

Contains 1 Piwi domain.

Sequence caution

The sequence BAC04873.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAH18436.1 differs from that shown. Reason: Frameshift at position 454.

Ontologies

Keywords
   Biological processDifferentiation
Meiosis
RNA-mediated gene silencing
Spermatogenesis
Translation regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandRNA-binding
   Molecular functionDevelopmental protein
   PTMMethylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA methylation involved in gamete generation

Inferred from sequence or structural similarity. Source: UniProtKB

cell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

gene silencing by RNA

Inferred from sequence or structural similarity. Source: UniProtKB

meiotic nuclear division

Inferred from electronic annotation. Source: UniProtKB-KW

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

piRNA metabolic process

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of translation

Inferred from electronic annotation. Source: UniProtKB-KW

spermatogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentP granule

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

piP-body

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionpiRNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z3Z4-1)

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.
Isoform 2 (identifier: Q7Z3Z4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MSGRARVKARGIARSPSATEVGRIQASPL → MG
     522-522: I → M
     523-852: Missing.
Isoform 3 (identifier: Q7Z3Z4-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 852852Piwi-like protein 4
PRO_0000234572

Regions

Domain268 – 384117PAZ
Domain546 – 838293Piwi

Natural variations

Alternative sequence1 – 6969Missing in isoform 3.
VSP_036665
Alternative sequence1 – 2929MSGRA…QASPL → MG in isoform 2.
VSP_021031
Alternative sequence5221I → M in isoform 2 and isoform 3.
VSP_021032
Alternative sequence523 – 852330Missing in isoform 2 and isoform 3.
VSP_021033
Natural variant781Q → R.
Corresponds to variant rs12276921 [ dbSNP | Ensembl ].
VAR_028367
Natural variant1671K → R.
Corresponds to variant rs12272255 [ dbSNP | Ensembl ].
VAR_055533
Natural variant3271Q → L. Ref.2
Corresponds to variant rs11020845 [ dbSNP | Ensembl ].
VAR_026291
Natural variant3701A → P. Ref.2
Corresponds to variant rs57607909 [ dbSNP | Ensembl ].
VAR_061025

Experimental info

Sequence conflict991T → A in BAC81341. Ref.1
Sequence conflict1531K → E in BAC04179. Ref.2
Sequence conflict5101A → T in BAC04873. Ref.2
Sequence conflict7011K → E in BAC04179. Ref.2
Sequence conflict7191S → G in BAC04179. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 37769EE078B96D13

FASTA85296,589
        10         20         30         40         50         60 
MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS RISTNDKYGI 

        70         80         90        100        110        120 
SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG SSGIPVKLVT NLFNLDFPQD 

       130        140        150        160        170        180 
WQLYQYHVTY IPDLASRRLR IALLYSHSEL SNKAKAFDGA ILFLSQKLEE KVTELSSETQ 

       190        200        210        220        230        240 
RGETIKMTIT LKRELPSSSP VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL 

       250        260        270        280        290        300 
SLWPGFAISV SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL 

       310        320        330        340        350        360 
IVLTRYNNRT YSIDDIDWSV KPTHTFQKRD GTEITYVDYY KQQYDITVSD LNQPMLVSLL 

       370        380        390        400        410        420 
KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA EKTRLSPSGR QQRLARLVDN 

       430        440        450        460        470        480 
IQRNTNARFE LETWGLHFGS QISLTGRIVP SEKILMQDHI CQPVSAADWS KDIRTCKILN 

       490        500        510        520        530        540 
AQSLNTWLIL CSDRTEYVAE SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV 

       550        560        570        580        590        600 
DPDVQLVMCI LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT 

       610        620        630        640        650        660 
CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF SRCILQRTMT 

       670        680        690        700        710        720 
DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL KTLIEYEVPQ LLSSVAESSS 

       730        740        750        760        770        780 
NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP PLGTVVDSEA TRNEWYDFYL ISQVACRGTV 

       790        800        810        820        830        840 
SPTYYNVIYD DNGLKPDHMQ RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE 

       850 
PSLELANHLF YL 

« Hide

Isoform 2 [UniParc].

Checksum: 41496B6996BF9BA3
Show »

FASTA49556,442
Isoform 3 [UniParc].

Checksum: 24A10ED388F6BD36
Show »

FASTA45352,174

References

« Hide 'large scale' references
[1]"Identification of eight members of the Argonaute family in the human genome."
Sasaki T., Shiohama A., Minoshima S., Shimizu N.
Genomics 82:323-330(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS LEU-327 AND PRO-370.
Tissue: Cerebellum and Testis.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Salivary gland.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[5]"The induction of H3K9 methylation by PIWIL4 at the p16Ink4a locus."
Sugimoto K., Kage H., Aki N., Sano A., Kitagawa H., Nagase T., Yatomi Y., Ohishi N., Takai D.
Biochem. Biophys. Res. Commun. 359:497-502(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE FUNCTION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31656.1. [Q7Z3Z4-1]
RefSeqNP_689644.2. NM_152431.2. [Q7Z3Z4-1]
UniGeneHs.660188.

3D structure databases

ProteinModelPortalQ7Z3Z4.
SMRQ7Z3Z4. Positions 100-831.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126818. 3 interactions.
IntActQ7Z3Z4. 2 interactions.
STRING9606.ENSP00000299001.

PTM databases

PhosphoSiteQ7Z3Z4.

Polymorphism databases

DMDM116242716.

Proteomic databases

PaxDbQ7Z3Z4.
PRIDEQ7Z3Z4.

Protocols and materials databases

DNASU143689.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299001; ENSP00000299001; ENSG00000134627. [Q7Z3Z4-1]
ENST00000446230; ENSP00000413838; ENSG00000134627. [Q7Z3Z4-2]
ENST00000543336; ENSP00000444575; ENSG00000134627. [Q7Z3Z4-3]
GeneID143689.
KEGGhsa:143689.
UCSCuc001pfa.3. human. [Q7Z3Z4-1]

Organism-specific databases

CTD143689.
GeneCardsGC11P094278.
H-InvDBHIX0079403.
HGNCHGNC:18444. PIWIL4.
HPAHPA036588.
MIM610315. gene.
neXtProtNX_Q7Z3Z4.
PharmGKBPA38333.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286051.
HOGENOMHOG000254789.
HOVERGENHBG049411.
InParanoidQ7Z3Z4.
KOK02156.
OMATSDFQLM.
OrthoDBEOG712TVQ.
PhylomeDBQ7Z3Z4.
TreeFamTF354206.

Gene expression databases

ArrayExpressQ7Z3Z4.
BgeeQ7Z3Z4.
CleanExHS_PIWIL4.
GenevestigatorQ7Z3Z4.

Family and domain databases

Gene3D3.30.420.10. 1 hit.
InterProIPR003100. PAZ_dom.
IPR003165. Piwi.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamPF02170. PAZ. 1 hit.
PF02171. Piwi. 1 hit.
[Graphical view]
SMARTSM00949. PAZ. 1 hit.
SM00950. Piwi. 1 hit.
[Graphical view]
SUPFAMSSF101690. SSF101690. 1 hit.
SSF53098. SSF53098. 1 hit.
PROSITEPS50821. PAZ. 1 hit.
PS50822. PIWI. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPIWIL4. human.
GenomeRNAi143689.
NextBio84780.
PROQ7Z3Z4.
SOURCESearch...

Entry information

Entry namePIWL4_HUMAN
AccessionPrimary (citable) accession number: Q7Z3Z4
Secondary accession number(s): B4DEG5 expand/collapse secondary AC list , Q68CZ4, Q8N8G9, Q8N9V8, Q8NEH2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM