The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived... See more...

Aliases for PGBD1 Gene

Aliases for PGBD1 Gene

  • PiggyBac Transposable Element Derived 1 2 3 5
  • PiggyBac Transposable Element-Derived Protein 1 3 4
  • Cerebral Protein 4 3 4
  • DJ874C20.4 2 3
  • HUCEP-4 2 3
  • SCAND4 2 3
  • PGBD1 5

External Ids for PGBD1 Gene

Previous GeneCards Identifiers for PGBD1 Gene

  • GC06P028306
  • GC06P028357
  • GC06P028249
  • GC06P028056

Summaries for PGBD1 Gene

Entrez Gene Summary for PGBD1 Gene

  • The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]

GeneCards Summary for PGBD1 Gene

PGBD1 (PiggyBac Transposable Element Derived 1) is a Protein Coding gene. Diseases associated with PGBD1 include Cavernous Sinus Thrombosis and Subdural Empyema. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and scavenger receptor activity. An important paralog of this gene is ZNF263.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGBD1 Gene

Genomics for PGBD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PGBD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGBD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGBD1

Top Transcription factor binding sites by QIAGEN in the PGBD1 gene promoter:
  • C/EBPalpha
  • Cdc5
  • Ik-1
  • LUN-1
  • NCX
  • NF-kappaB
  • NF-kappaB1
  • p53
  • Pax-6
  • Sox9

Genomic Locations for PGBD1 Gene

Genomic Locations for PGBD1 Gene
chr6:28,281,537-28,303,681
(GRCh38/hg38)
Size:
22,145 bases
Orientation:
Plus strand
chr6:28,249,314-28,270,326
(GRCh37/hg19)
Size:
21,013 bases
Orientation:
Plus strand

Genomic View for PGBD1 Gene

Genes around PGBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGBD1 Gene

Proteins for PGBD1 Gene

  • Protein details for PGBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JS3-PGBD1_HUMAN
    Recommended name:
    PiggyBac transposable element-derived protein 1
    Protein Accession:
    Q96JS3
    Secondary Accessions:
    • Q53F43
    • Q6NTF5
    • Q8WWS4

    Protein attributes for PGBD1 Gene

    Size:
    809 amino acids
    Molecular mass:
    92515 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PGBD1 Gene

Post-translational modifications for PGBD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PGBD1 Gene

Domains & Families for PGBD1 Gene

Gene Families for PGBD1 Gene

Protein Domains for PGBD1 Gene

InterPro:
Blocks:
  • Transcriptional regulator SCAN
ProtoNet:

Suggested Antigen Peptide Sequences for PGBD1 Gene

GenScript: Design optimal peptide antigens:
  • Cerebral protein 4 (PGBD1_HUMAN)
genes like me logo Genes that share domains with PGBD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PGBD1 Gene

Function for PGBD1 Gene

Phenotypes From GWAS Catalog for PGBD1 Gene

Gene Ontology (GO) - Molecular Function for PGBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with PGBD1: view
genes like me logo Genes that share phenotypes with PGBD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGBD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGBD1 Gene

Localization for PGBD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGBD1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PGBD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGBD1 Gene

Pathways & Interactions for PGBD1 Gene

PathCards logo

SuperPathways for PGBD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PGBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with PGBD1: view

No data available for Pathways by source and SIGNOR curated interactions for PGBD1 Gene

Drugs & Compounds for PGBD1 Gene

No Compound Related Data Available

Transcripts for PGBD1 Gene

mRNA/cDNA for PGBD1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGBD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGBD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5
SP1:
SP2:
SP3: -

Relevant External Links for PGBD1 Gene

GeneLoc Exon Structure for
PGBD1

Expression for PGBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PGBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGBD1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PGBD1 Gene



Protein tissue co-expression partners for PGBD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGBD1

SOURCE GeneReport for Unigene cluster for PGBD1 Gene:

Hs.144527

Evidence on tissue expression from TISSUES for PGBD1 Gene

  • Nervous system(4.4)
  • Liver(4)
genes like me logo Genes that share expression patterns with PGBD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGBD1 Gene

Orthologs for PGBD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PGBD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PGBD1 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PGBD1 30 31
  • 85.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PGBD1 31
  • 77 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pgbd1 30 17 31
  • 76.79 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-255f4.7 31
  • 15 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
ManyToMany
Species where no ortholog for PGBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PGBD1 Gene

ENSEMBL:
Gene Tree for PGBD1 (if available)
TreeFam:
Gene Tree for PGBD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PGBD1: view image

Paralogs for PGBD1 Gene

(3) SIMAP similar genes for PGBD1 Gene using alignment to 1 proteins:

  • PGBD1_HUMAN
genes like me logo Genes that share paralogs with PGBD1: view

Variants for PGBD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGBD1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
773194 Benign: not provided 28,300,890(+) G/A MISSENSE_VARIANT
778887 Benign: not provided 28,302,092(+) T/C SYNONYMOUS_VARIANT
rs3800324 -. - p.Gly244Glup.Gly244Arg
rs16893917 - p.Met592Ile
rs1997660 - p.Ile678Val

Additional dbSNP identifiers (rs#s) for PGBD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PGBD1 Gene

Variant ID Type Subtype PubMed ID
nsv830620 CNV loss 17160897

Variation tolerance for PGBD1 Gene

Residual Variation Intolerance Score: 88.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.75; 89.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGBD1 Gene

Human Gene Mutation Database (HGMD)
PGBD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGBD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGBD1 Gene

Disorders for PGBD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PGBD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cavernous sinus thrombosis
  • thrombosis of cavernous venous sinus
subdural empyema
  • subdural abscess
acute orbital inflammation
  • acute inflammation of orbit
orbital cellulitis
intracranial sinus thrombosis
  • sinus thrombosis, intracranial
- elite association - COSMIC cancer census association via MalaCards
Search PGBD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PGBD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PGBD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGBD1 Gene

Publications for PGBD1 Gene

  1. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 20534741) Corneveaux JJ … Huentelman MJ (Human molecular genetics 2010) 3 41
  2. [Polymorphic markers G(-455)A of gene FGB and C(-1654)T of gene PROC and genetic predisposition to unfavorable outcomes patients undergoing acute coronary syndrome]. (PMID: 20873219) Agapkina IuV … Nosikov VV (Molekuliarnaia biologiia 2010) 3 41
  3. Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese. (PMID: 20673877) Li T … Shi Y (Biological psychiatry 2010) 3 41
  4. Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide BM … Bertram L (Neurogenetics 2009) 3 41
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PGBD1 Gene

  • Signalway Proteins for PGBD1

Sources for PGBD1 Gene