PGBD1 (piggyBac transposable element derived 1)

Gene

• Entrez ID: 84547
• Gene name: PiggyBac transposable element derived 1
• Gene symbol: PGBD1
• Synonyms (NCBI Gene): HUCEP-4, SCAND4, dJ874C20.4
• Chromosome: 6
• Chromosome location: 6p22.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495996	hsa-miR-3146	PAR-CLIP	22291592
MIRT495995	hsa-miR-676-5p	PAR-CLIP	22291592
MIRT495993	hsa-miR-4733-5p	PAR-CLIP	22291592
MIRT495996	hsa-miR-3146	PAR-CLIP	22291592
MIRT495995	hsa-miR-676-5p	PAR-CLIP	22291592
MIRT495993	hsa-miR-4733-5p	PAR-CLIP	22291592
MIRT495996	hsa-miR-3146	PAR-CLIP	22291592
MIRT495995	hsa-miR-676-5p	PAR-CLIP	22291592
MIRT495993	hsa-miR-4733-5p	PAR-CLIP	22291592
MIRT495996	hsa-miR-3146	PAR-CLIP	22291592
MIRT495995	hsa-miR-676-5p	PAR-CLIP	22291592
MIRT495993	hsa-miR-4733-5p	PAR-CLIP	22291592
MIRT2294110	hsa-miR-654-3p	CLIP-seq
MIRT2592072	hsa-miR-1229	CLIP-seq
MIRT2592073	hsa-miR-1323	CLIP-seq
MIRT2592074	hsa-miR-139-5p	CLIP-seq
MIRT2592075	hsa-miR-3123	CLIP-seq
MIRT2592076	hsa-miR-3143	CLIP-seq
MIRT2592077	hsa-miR-342-3p	CLIP-seq
MIRT2592078	hsa-miR-376c	CLIP-seq
MIRT2592079	hsa-miR-3925-5p	CLIP-seq
MIRT2592080	hsa-miR-3976	CLIP-seq
MIRT2592081	hsa-miR-421	CLIP-seq
MIRT2592082	hsa-miR-489	CLIP-seq
MIRT2592083	hsa-miR-543	CLIP-seq
MIRT2592084	hsa-miR-548m	CLIP-seq
MIRT2592085	hsa-miR-548o	CLIP-seq
MIRT2592086	hsa-miR-582-5p	CLIP-seq
MIRT2592087	hsa-miR-642b	CLIP-seq
MIRT2592072	hsa-miR-1229	CLIP-seq
MIRT2592073	hsa-miR-1323	CLIP-seq
MIRT2592074	hsa-miR-139-5p	CLIP-seq
MIRT2592075	hsa-miR-3123	CLIP-seq
MIRT2592077	hsa-miR-342-3p	CLIP-seq
MIRT2592078	hsa-miR-376c	CLIP-seq
MIRT2592079	hsa-miR-3925-5p	CLIP-seq
MIRT2592080	hsa-miR-3976	CLIP-seq
MIRT2592081	hsa-miR-421	CLIP-seq
MIRT2592082	hsa-miR-489	CLIP-seq
MIRT2592083	hsa-miR-543	CLIP-seq
MIRT2592084	hsa-miR-548m	CLIP-seq
MIRT2592085	hsa-miR-548o	CLIP-seq
MIRT2592086	hsa-miR-582-5p	CLIP-seq
MIRT2592087	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 26871637, 28514442, 31515488, 32296183, 33961781
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	34673265
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 31515488, 32296183
GO:0043565	Function	Sequence-specific DNA binding	IBA

Other IDs

• MIM: 621244
• HGNC: 19398
• e!Ensembl: ENSG00000137338

Protein

• UniProt ID: Q96JS3
• Protein name: PiggyBac transposable element-derived protein 1 (Cerebral protein 4)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02023	SCAN	40 → 129	SCAN domain	Domain
  PF13843	DDE_Tnp_1_7	418 → 775	Transposase IS4	Domain

• Sequence:

  MYEALPGPAPENEDGLVKVKEEDPTWEQVCNSQEGSSHTQEICRLRFRHFCYQEAHGPQE
  ALAQLRELCHQWLRPEMHTKEQIMELLVLEQFLTILPKELQPCVKTYPLESGEEAVTVLE
  NLETGSGDTGQQASVYIQGQDMHPMVAEYQGVSLECQSLQLLPGITTLKCEPPQRPQGNP
  QEVSGPVPHGSAHLQEKNPRDKAVVPVFNPVRSQTLVKTEEETAQAVAAEKWSHLSLTRR
  NLCGNSAQETVMSLSPMTEEIVTKDRLFKAKQETSEEMEQSGEASGKPNRECAPQIPCST
  PIATERTVAHLNTLKDRHPGDLWARMHISSLEYAAGDITRKGRKKDKARVSELLQGLSFS
  GDSDVEKDNEPEIQPAQKKLKVSCFPEKSWTKRDIKPNFPSWSALDSGLLNLKSEKLNPV
  ELFELFFDDETFNLIVNETNNYASQKNVSLEVTVQEMRCVFGVLLLSGFMRHPRREMYWE
  VSDTDQNLVRDAIRRDRFELIFSNLHFADNGHLDQKDKFTKLRPLIKQMNKNFLLYAPLE
  EYYCFDKSMCECFDSDQFLNGKPIRIGYKIWCGTTTQGYLVWFEPYQEESTMKVDEDPDL
  GLGGNLVMNFADVLLERGQYPYHLCFDSFFTSVKLLSALKKKGVRATGTIRENRTEKCPL
  MNVEHMKKMKRGYFDFRIEENNEIILCRWYGDGIISLCSNAVGIEPVNEVSCCDADNEEI
  PQISQPSIVKVYDECKEGVAKMDQIISKYRVRIRSKKWYSILVSYMIDVAMNNAWQLHRA
  CNPGASLDPLDFRRFVAHFYLEHNAHLSD

• Sequence length: 809

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	18830724	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21132329		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37223020	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	18990219	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	22899653		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	23164818		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21791550, 22037552, 23164818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	22037552, 22488895, 23437227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	22037552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only