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Q7Z3Z4

- PIWL4_HUMAN

UniProt

Q7Z3Z4 - PIWL4_HUMAN

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Protein
Piwi-like protein 4
Gene
PIWIL4, HIWI2, PIWI
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.2 Publications

GO - Molecular functioni

  1. piRNA binding Source: UniProtKB

GO - Biological processi

  1. DNA methylation involved in gamete generation Source: UniProtKB
  2. cell differentiation Source: UniProtKB-KW
  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.

GO - Cellular componenti

  1. P granule Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. nucleus 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 4
PRO_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 1 Publication, it is ubiquitously expressed.1 Publication

Gene expression databases

ArrayExpressiQ7Z3Z4.
BgeeiQ7Z3Z4.
CleanExiHS_PIWIL4.
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.

Protein-protein interaction databases

BioGridi126818. 3 interactions.
IntActiQ7Z3Z4. 2 interactions.
STRINGi9606.ENSP00000299001.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3Z4.
SMRiQ7Z3Z4. Positions 100-831.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini268 – 384117PAZ
Add
BLAST
Domaini546 – 838293Piwi
Add
BLAST

Sequence similaritiesi

Contains 1 PAZ domain.
Contains 1 Piwi domain.

Phylogenomic databases

eggNOGiNOG286051.
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

MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS    50
RISTNDKYGI SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG 100
SSGIPVKLVT NLFNLDFPQD WQLYQYHVTY IPDLASRRLR IALLYSHSEL 150
SNKAKAFDGA ILFLSQKLEE KVTELSSETQ RGETIKMTIT LKRELPSSSP 200
VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL SLWPGFAISV 250
SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL 300
IVLTRYNNRT YSIDDIDWSV KPTHTFQKRD GTEITYVDYY KQQYDITVSD 350
LNQPMLVSLL KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA 400
EKTRLSPSGR QQRLARLVDN IQRNTNARFE LETWGLHFGS QISLTGRIVP 450
SEKILMQDHI CQPVSAADWS KDIRTCKILN AQSLNTWLIL CSDRTEYVAE 500
SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV DPDVQLVMCI 550
LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT 600
CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF 650
SRCILQRTMT DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL 700
KTLIEYEVPQ LLSSVAESSS NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP 750
PLGTVVDSEA TRNEWYDFYL ISQVACRGTV SPTYYNVIYD DNGLKPDHMQ 800
RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE PSLELANHLF 850
YL 852
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.

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.
VSP_036665Add
BLAST
Alternative sequencei1 – 2929MSGRA…QASPL → MG in isoform 2.
VSP_021031Add
BLAST
Alternative sequencei522 – 5221I → M in isoform 2 and isoform 3.
VSP_021032
Alternative sequencei523 – 852330Missing in isoform 2 and isoform 3.
VSP_021033Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti99 – 991T → A in BAC81341. 1 Publication
Sequence conflicti153 – 1531K → E in BAC04179. 1 Publication
Sequence conflicti510 – 5101A → T in BAC04873. 1 Publication
Sequence conflicti701 – 7011K → E in BAC04179. 1 Publication
Sequence conflicti719 – 7191S → G in BAC04179. 1 Publication

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. 2 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.
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

ArrayExpressi Q7Z3Z4.
Bgeei Q7Z3Z4.
CleanExi HS_PIWIL4.
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: July 9, 2014
This is version 96 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

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