Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q7Z3Z4

- PIWL4_HUMAN

UniProt

Q7Z3Z4 - PIWL4_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Piwi-like protein 4

Gene

PIWIL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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. 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.By similarity1 Publication

GO - Molecular functioni

  1. piRNA binding Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. DNA methylation involved in gamete generation Source: UniProtKB
  3. gene silencing by RNA Source: UniProtKB
  4. meiotic nuclear division Source: UniProtKB-KW
  5. multicellular organismal development Source: UniProtKB-KW
  6. piRNA metabolic process Source: UniProtKB
  7. regulation of translation Source: UniProtKB-KW
  8. spermatogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Meiosis, RNA-mediated gene silencing, Spermatogenesis, Translation regulation

Keywords - Ligandi

RNA-binding

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:18444. PIWIL4.

Subcellular locationi

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).By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
  3. P granule Source: UniProtKB
  4. piP-body Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38333.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 852852Piwi-like protein 4PRO_0000234572Add
BLAST

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

PaxDbiQ7Z3Z4.
PRIDEiQ7Z3Z4.

PTM databases

PhosphoSiteiQ7Z3Z4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ7Z3Z4.
CleanExiHS_PIWIL4.
ExpressionAtlasiQ7Z3Z4. baseline and differential.
GenevestigatoriQ7Z3Z4.

Organism-specific databases

HPAiHPA036588.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi126818. 3 interactions.
IntActiQ7Z3Z4. 14 interactions.
STRINGi9606.ENSP00000299001.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3Z4.
SMRiQ7Z3Z4. Positions 100-831.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini268 – 384117PAZPROSITE-ProRule annotationAdd
BLAST
Domaini546 – 838293PiwiPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the argonaute family. Piwi subfamily.Curated
Contains 1 PAZ domain.PROSITE-ProRule annotation
Contains 1 Piwi domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG286051.
GeneTreeiENSGT00760000119148.
HOGENOMiHOG000254789.
HOVERGENiHBG049411.
InParanoidiQ7Z3Z4.
KOiK02156.
OMAiTSDFQLM.
OrthoDBiEOG712TVQ.
PhylomeDBiQ7Z3Z4.
TreeFamiTF354206.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
InterProiIPR003100. PAZ_dom.
IPR003165. Piwi.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamiPF02170. PAZ. 1 hit.
PF02171. Piwi. 1 hit.
[Graphical view]
SMARTiSM00949. PAZ. 1 hit.
SM00950. Piwi. 1 hit.
[Graphical view]
SUPFAMiSSF101690. SSF101690. 1 hit.
SSF53098. SSF53098. 1 hit.
PROSITEiPS50821. PAZ. 1 hit.
PS50822. PIWI. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence CAH18436.1 differs from that shown. Reason: Frameshift at position 454.
The sequence BAC04873.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti99 – 991T → A in BAC81341. (PubMed:12906857)Curated
Sequence conflicti153 – 1531K → E in BAC04179. (PubMed:14702039)Curated
Sequence conflicti510 – 5101A → T in BAC04873. (PubMed:14702039)Curated
Sequence conflicti701 – 7011K → E in BAC04179. (PubMed:14702039)Curated
Sequence conflicti719 – 7191S → G in BAC04179. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781Q → R.
Corresponds to variant rs12276921 [ dbSNP | Ensembl ].
VAR_028367
Natural varianti167 – 1671K → R.
Corresponds to variant rs12272255 [ dbSNP | Ensembl ].
VAR_055533
Natural varianti327 – 3271Q → L.1 Publication
Corresponds to variant rs11020845 [ dbSNP | Ensembl ].
VAR_026291
Natural varianti370 – 3701A → P.1 Publication
Corresponds to variant rs57607909 [ dbSNP | Ensembl ].
VAR_061025

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6969Missing in isoform 3. 1 PublicationVSP_036665Add
BLAST
Alternative sequencei1 – 2929MSGRA…QASPL → MG in isoform 2. 1 PublicationVSP_021031Add
BLAST
Alternative sequencei522 – 5221I → M in isoform 2 and isoform 3. 2 PublicationsVSP_021032
Alternative sequencei523 – 852330Missing in isoform 2 and isoform 3. 2 PublicationsVSP_021033Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi116242716.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS31656.1. [Q7Z3Z4-1 ]
RefSeqi NP_689644.2. NM_152431.2. [Q7Z3Z4-1 ]
UniGenei Hs.660188.

3D structure databases

ProteinModelPortali Q7Z3Z4.
SMRi Q7Z3Z4. Positions 100-831.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126818. 3 interactions.
IntActi Q7Z3Z4. 14 interactions.
STRINGi 9606.ENSP00000299001.

PTM databases

PhosphoSitei Q7Z3Z4.

Polymorphism databases

DMDMi 116242716.

Proteomic databases

PaxDbi Q7Z3Z4.
PRIDEi Q7Z3Z4.

Protocols and materials databases

DNASUi 143689.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299001 ; ENSP00000299001 ; ENSG00000134627 . [Q7Z3Z4-1 ]
ENST00000446230 ; ENSP00000413838 ; ENSG00000134627 . [Q7Z3Z4-2 ]
ENST00000543336 ; ENSP00000444575 ; ENSG00000134627 . [Q7Z3Z4-3 ]
GeneIDi 143689.
KEGGi hsa:143689.
UCSCi uc001pfa.3. human. [Q7Z3Z4-1 ]

Organism-specific databases

CTDi 143689.
GeneCardsi GC11P094278.
H-InvDB HIX0079403.
HGNCi HGNC:18444. PIWIL4.
HPAi HPA036588.
MIMi 610315. gene.
neXtProti NX_Q7Z3Z4.
PharmGKBi PA38333.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG286051.
GeneTreei ENSGT00760000119148.
HOGENOMi HOG000254789.
HOVERGENi HBG049411.
InParanoidi Q7Z3Z4.
KOi K02156.
OMAi TSDFQLM.
OrthoDBi EOG712TVQ.
PhylomeDBi Q7Z3Z4.
TreeFami TF354206.

Miscellaneous databases

ChiTaRSi PIWIL4. human.
GenomeRNAii 143689.
NextBioi 84780.
PROi Q7Z3Z4.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z3Z4.
CleanExi HS_PIWIL4.
ExpressionAtlasi Q7Z3Z4. baseline and differential.
Genevestigatori Q7Z3Z4.

Family and domain databases

Gene3Di 3.30.420.10. 1 hit.
InterProi IPR003100. PAZ_dom.
IPR003165. Piwi.
IPR012337. RNaseH-like_dom.
[Graphical view ]
Pfami PF02170. PAZ. 1 hit.
PF02171. Piwi. 1 hit.
[Graphical view ]
SMARTi SM00949. PAZ. 1 hit.
SM00950. Piwi. 1 hit.
[Graphical view ]
SUPFAMi SSF101690. SSF101690. 1 hit.
SSF53098. SSF53098. 1 hit.
PROSITEi PS50821. PAZ. 1 hit.
PS50822. PIWI. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: POSSIBLE FUNCTION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiPIWL4_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3Z4
Secondary accession number(s): B4DEG5
, Q68CZ4, Q8N8G9, Q8N9V8, Q8NEH2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 17, 2006
Last modified: October 29, 2014
This is version 98 of the entry and version 2 of the sequence. [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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3