PGBD5
entrez
79605
canonical
uniprot
Q8N414
canonical
ensembl
ENSG00000177614
resolver
ensp
ENSP00000375733
resolver
genesymbol
PGBD5
resolver
hgnc
HGNC:19405
resolver
uniprot
A0A0A0MS21
resolver
uniprot
A0PJF3
resolver
uniprot
B4DM72
resolver
uniprot
B7Z9K3
resolver
uniprot
B9EK58
resolver
uniprot
Q5SR37
resolver
uniprot
Q6PJN2
resolver
uniprot
U3REJ1
resolver
uniprot_entry
PGBD5_HUMAN
resolver
uniprot_sec
A0A0A0MS21
resolver
uniprot_sec
A0PJF3
resolver
uniprot_sec
B4DM72
resolver
uniprot_sec
B7Z9K3
resolver
uniprot_sec
B9EK58
resolver
uniprot_sec
Q5SR37
resolver
uniprot_sec
Q6PJN2
resolver
uniprot_sec
U3REJ1
resolver
amino_acid_sequence
MAEGGGGARRRAPALLEAARARYESLHISDDVFGESGPDSGGNPFYSTSAASRSSSAASSDDEREPPGPPGAAPPPPRAPDAQEPEEDEAGAGWSAALRDRPPPRFEDTGGPTRKMPPSASAVDFFQLFVPDNVLKNMVVQTNMYAKKFQERFGSDGAWVEVTLTEMKAFLGYMISTSISHCESVLSIWSGGFYSNRSLALVMSQARFEKILKYFHVVAFRSSQTTHGLYKVQPFLDSLQNSFDSAFRPSQTQVLHEPLIDEDPVFIATCTERELRKRKKRKFSLWVRQCSSTGFIIQIYVHLKEGGGPDGLDALKNKPQLHSMVARSLCRNAAGKNYIIFTGPSITSLTLFEEFEKQGIYCCGLLRARKSDCTGLPLSMLTNPATPPARGQYQIKMKGNMSLICWYNKGHFRFLTNAYSPVQQGVIIKRKSGEIPCPLAVEAFAAHLSYICRYDDKYSKYFISHKPNKTWQQVFWFAISIAINNAYILYKMSDAYHVKRYSRAQFGERLVRELLGLEDASPTH
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity (NEDSHS) [MIM:621482]: An autosomal recessive disorder characterized by developmental delay, intellectual disability, language and motor impairments, hypotonia, spasticity, seizures, and reduced corpus callosum and cerebellar size. {ECO:0000269|PubMed:41533792}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:28504702}.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Transposase that mediates sequence-specific genomic rearrangements (PubMed:26406119, PubMed:28504702). Can induce genomic rearrangements that inactivate the HPRT1 gene (PubMed:27491780). {ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:27491780, ECO:0000269|PubMed:28504702}.
uniprot
proteins
mass_dalton
58464
uniprot
proteins
mutagenesis
MUTAGEN 237; /note="D->A: Loss of DNA transposase activity and of cell transforming activity."; /evidence="ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:28504702"; MUTAGEN 244; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 257; /note="E->A: Decreased DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 261; /note="D->A: Decreased DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 263; /note="D->A: Loss of DNA transposase activity and of cell transforming activity."; /evidence="ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:28504702"; MUTAGEN 272; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 274; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 305; /note="E->A: Decreased DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 310; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 313; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 353; /note="E->A: Decreased DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 354; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 356; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 372; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 434; /note="E->A: No effect on DNA transposase activity, nor on cell transforming activity."; /evidence="ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:28504702"; MUTAGEN 442; /note="E->A: No effect on DNA transposase activity, nor on cell transforming activity."; /evidence="ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:28504702"; MUTAGEN 455; /note="D->A: Loss of DNA transposase activity. No effect on cell transforming activity."; /evidence="ECO:0000269|PubMed:26406119, ECO:0000269|PubMed:28504702"; MUTAGEN 456; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 494; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 508; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 513; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 518; /note="E->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119"; MUTAGEN 519; /note="D->A: No effect on DNA transposase activity."; /evidence="ECO:0000269|PubMed:26406119
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
24180413
uniprot
proteins
pubmed
26406119
uniprot
proteins
pubmed
27491780
uniprot
proteins
pubmed
28504702
uniprot
proteins
pubmed
41533792
uniprot
proteins
sequence_length
524
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24180413}.
uniprot
proteins