PiggyBac Transposable Element Derived 5

PiggyBac Transposable Element Derived 5 is an enzyme that in humans is encoded by the PGBD5 gene.^[5] PGBD5 is a DNA transposase related to the ancient PiggyBac transposase first identified in the cabbage looper moth, Trichoplusia ni.^[6] The gene is believed to have been domesticated over 500 million years ago in the common ancestor of cephalochordates and vertebrates.^[7] The putative catalytic triad of the protein composed of three aspartic acid residues is conserved among PGBD5-like genes through evolution,^[8] and is distinct from other PiggyBac-like genes.^[7] PGBD5 has been shown to be able to transpose DNA in a sequence-specific, cut-and-paste fashion.^[8] PGBD5 has also been proposed to mediate site-specific DNA rearrangements in human tumors.^[9]

PGBD5
Identifiers
Aliases	PGBD5, piggyBac transposable element derived 5, PiggyBac Transposable Element Derived 5
External IDs	OMIM: 616791; MGI: 2429955; HomoloGene: 11583; GeneCards: PGBD5; OMA:PGBD5 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.13 Start 230,314,490 bp[1] End 230,426,332 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E2 Start 125,095,788 bp[2] End 125,166,397 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in frontal pole entorhinal cortex middle temporal gyrus postcentral gyrus superior frontal gyrus Brodmann area 46 Brodmann area 10 orbitofrontal cortex cerebellar vermis Brodmann area 23 Top expressed in dentate gyrus dentate gyrus of hippocampal formation granule cell piriform cortex olfactory tubercle hippocampus proper dorsal striatum cingulate gyrus primary visual cortex medial dorsal nucleus prefrontal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function nuclease activity endonuclease activity hydrolase activity transposase activity Cellular component nucleus Biological process transposition nucleic acid phosphodiester bond hydrolysis non-replicative transposition, DNA-mediated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79605 209966 Ensembl ENSG00000177614 ENSMUSG00000050751 UniProt Q8N414 D3YZI9 RefSeq (mRNA) NM_024554 NM_001258311 NM_171824 RefSeq (protein) NP_001245240 NP_741958 Location (UCSC) Chr 1: 230.31 – 230.43 Mb Chr 8: 125.1 – 125.17 Mb PubMed search [3] [4]
Wikidata
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Human PGBD5 can mobilize the insect PiggyBac transposons in human cell culture.^[10]

Expression in the brain

In mature mice brain tissue PGBD5 is found primarily in regions of the olfactory bulb, hippocampus, and cerebellum. In embryonic mice brain tissue PGBD5 is found not only in the medial pallium and prepontine isthmus, which are embryonic brain areas that give rise to the development of the hippocampus and cerebellum but also in areas in the embryonic brain that give rise to the hypothalamus and medulla.^{[11][better source needed]}

Disease Associations

PGBD5 is expressed in the majority of human pediatric solid tumors.^[12] It's upregulated in sporadic Creutzfeldt-Jakob disease.^[13] PGBD5 is associated with frontotemporal dementia, where it gets most expressed in neurons, followed by ogliodendrocytes, mature astrocytes, fetal astrocytes, endothelial cells and then microglia/macrophages.^[14]