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Protein

PiggyBac transposable element-derived protein 5

Gene

PGBD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780).3 Publications

Miscellaneous

Has been domesticated very early in vertebrate evolution, approximately 500 million years ago, in the common ancestor of cephalochordates and vertebrates.1 Publication

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processTransposition

Names & Taxonomyi

Protein namesi
Recommended name:
PiggyBac transposable element-derived protein 5 (EC:3.1.-.-)
Alternative name(s):
PiggyBac domain-related protein 51 Publication
PiggyBac transposase 51 Publication
Gene namesi
Name:PGBD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000177614.9.
HGNCiHGNC:19405. PGBD5.

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Induces site-specific DNA rearrangements, including intrachromosomal deletions, as well as inversions, duplications and translocations, in rhabdoid tumors that share developmental origin with cells that normally express PGBD5, even though these tumors may not exhibit apparent widespread genomic instability. This activity recurrently targets regulatory elements and tumor suppressor genes and promotes cell transformation.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi237D → A: Loss of DNA transposase activity and of cell transforming activity. 2 Publications1
Mutagenesisi244D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi257E → A: Decreased DNA transposase activity. 1 Publication1
Mutagenesisi261D → A: Decreased DNA transposase activity. 1 Publication1
Mutagenesisi263D → A: Loss of DNA transposase activity and of cell transforming activity. 2 Publications1
Mutagenesisi272E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi274E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi305E → A: Decreased DNA transposase activity. 1 Publication1
Mutagenesisi310D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi313D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi353E → A: Decreased DNA transposase activity. 1 Publication1
Mutagenesisi354E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi356E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi372D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi434E → A: No effect on DNA transposase activity, nor on cell transforming activity. 2 Publications1
Mutagenesisi442E → A: No effect on DNA transposase activity, nor on cell transforming activity. 2 Publications1
Mutagenesisi455D → A: Loss of DNA transposase activity. No effect on cell transforming activity. 2 Publications1
Mutagenesisi456D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi494D → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi508E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi513E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi518E → A: No effect on DNA transposase activity. 1 Publication1
Mutagenesisi519D → A: No effect on DNA transposase activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000177614.
PharmGKBiPA134905621.

Polymorphism and mutation databases

BioMutaiPGBD5.
DMDMi300669682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002880561 – 524PiggyBac transposable element-derived protein 5Add BLAST524

Proteomic databases

EPDiQ8N414.
MaxQBiQ8N414.
PaxDbiQ8N414.
PeptideAtlasiQ8N414.
PRIDEiQ8N414.

PTM databases

iPTMnetiQ8N414.
PhosphoSitePlusiQ8N414.

Expressioni

Gene expression databases

BgeeiENSG00000177614.
CleanExiHS_PGBD5.
ExpressionAtlasiQ8N414. baseline and differential.

Organism-specific databases

HPAiHPA065010.

Interactioni

Protein-protein interaction databases

BioGridi122741. 1 interactor.
STRINGi9606.ENSP00000322530.

Structurei

3D structure databases

ProteinModelPortaliQ8N414.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IJ9Y. Eukaryota.
ENOG410XP35. LUCA.
GeneTreeiENSGT00510000047893.
HOGENOMiHOG000115519.
HOVERGENiHBG053995.
InParanoidiQ8N414.
OMAiNYIIFTG.
OrthoDBiEOG091G0684.
PhylomeDBiQ8N414.
TreeFamiTF332005.

Family and domain databases

InterProiView protein in InterPro
IPR029526. PGBD.
PfamiView protein in Pfam
PF13843. DDE_Tnp_1_7. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N414-1) [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
MAEGGGGARR RAPALLEAAR ARYESLHISD DVFGESGPDS GGNPFYSTSA
60 70 80 90 100
ASRSSSAASS DDEREPPGPP GAAPPPPRAP DAQEPEEDEA GAGWSAALRD
110 120 130 140 150
RPPPRFEDTG GPTRKMPPSA SAVDFFQLFV PDNVLKNMVV QTNMYAKKFQ
160 170 180 190 200
ERFGSDGAWV EVTLTEMKAF LGYMISTSIS HCESVLSIWS GGFYSNRSLA
210 220 230 240 250
LVMSQARFEK ILKYFHVVAF RSSQTTHGLY KVQPFLDSLQ NSFDSAFRPS
260 270 280 290 300
QTQVLHEPLI DEDPVFIATC TERELRKRKK RKFSLWVRQC SSTGFIIQIY
310 320 330 340 350
VHLKEGGGPD GLDALKNKPQ LHSMVARSLC RNAAGKNYII FTGPSITSLT
360 370 380 390 400
LFEEFEKQGI YCCGLLRARK SDCTGLPLSM LTNPATPPAR GQYQIKMKGN
410 420 430 440 450
MSLICWYNKG HFRFLTNAYS PVQQGVIIKR KSGEIPCPLA VEAFAAHLSY
460 470 480 490 500
ICRYDDKYSK YFISHKPNKT WQQVFWFAIS IAINNAYILY KMSDAYHVKR
510 520
YSRAQFGERL VRELLGLEDA SPTH
Length:524
Mass (Da):58,464
Last modified:October 25, 2017 - v4
Checksum:i049D3B3D983B295B
GO
Isoform 2 (identifier: Q8N414-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-110: MAEGGGGARR...RPPPRFEDTG → MPDYRTRALF...RDLQPSDSFT

Note: No experimental confirmation available.1 Publication
Show »
Length:455
Mass (Da):51,642
Checksum:iDF3393BFADC6F5F0
GO

Sequence cautioni

Q8N414: The sequence BAG59784 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Q8N414: The sequence BAH14339 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti314A → V in AAI50639 (PubMed:15489334).Curated1
Sequence conflicti411H → Y in BAG59784 (PubMed:14702039).Curated1
Sequence conflicti469K → Q in BAH14339 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0591311 – 110MAEGG…FEDTG → MPDYRTRALFVQSTLGDSAG PELQLLSIVPGRDLQPSDSF T in isoform 2. 1 PublicationAdd BLAST110

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL691479 Genomic DNA. No translation available.
AL133516 Genomic DNA. No translation available.
BC013901 mRNA. Translation: AAH13901.1.
BC027466 mRNA. Translation: AAH27466.1.
BC036865 mRNA. Translation: AAH36865.1.
BC150638 mRNA. Translation: AAI50639.1.
KF670820 mRNA. Translation: AGX00581.1.
AK297321 mRNA. Translation: BAG59784.1. Different initiation.
AK315968 mRNA. Translation: BAH14339.1. Different initiation.
RefSeqiNP_001245240.1. NM_001258311.1.
UniGeneiHs.520463.

Genome annotation databases

EnsembliENST00000525115; ENSP00000431404; ENSG00000177614.
GeneIDi79605.
KEGGihsa:79605.
UCSCiuc057qgx.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiPGBD5_HUMAN
AccessioniPrimary (citable) accession number: Q8N414
Secondary accession number(s): A0A0A0MS21
, A0PJF3, B4DM72, B7Z9K3, B9EK58, Q5SR37, Q6PJN2, U3REJ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 25, 2017
Last modified: October 25, 2017
This is version 88 of the entry and version 4 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot