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Aliases for PLAG1 Gene

Aliases for PLAG1 Gene

  • Pleiomorphic Adenoma Gene 1 2 3
  • SGPA 3 6
  • PSA 3 6
  • Pleiomorphic Adenoma Gene 1 Protein 4
  • Zinc Finger Protein PLAG1 3
  • COL1A2/PLAG1 Fusion 3
  • ZNF912 3

External Ids for PLAG1 Gene

Previous GeneCards Identifiers for PLAG1 Gene

  • GC08M056256
  • GC08M057012
  • GC08M056796
  • GC08M057123
  • GC08M057236
  • GC08M057073
  • GC08M052540

Summaries for PLAG1 Gene

Entrez Gene Summary for PLAG1 Gene

  • Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLAG1 Gene

PLAG1 (Pleiomorphic Adenoma Gene 1) is a Protein Coding gene. Diseases associated with PLAG1 include adenomas, salivary gland pleomorphic and vulvar leiomyoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding RNA polymerase II transcription factor activity. An important paralog of this gene is PLAGL1.

UniProtKB/Swiss-Prot for PLAG1 Gene

  • Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia.

Gene Wiki entry for PLAG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLAG1 Gene

Genomics for PLAG1 Gene

Regulatory Elements for PLAG1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PLAG1 Gene

Start:
56,160,904 bp from pter
End:
56,211,324 bp from pter
Size:
50,421 bases
Orientation:
Minus strand

Genomic View for PLAG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLAG1 Gene

Proteins for PLAG1 Gene

  • Protein details for PLAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DJT9-PLAG1_HUMAN
    Recommended name:
    Zinc finger protein PLAG1
    Protein Accession:
    Q6DJT9
    Secondary Accessions:
    • B4DLC2
    • Q59GH8
    • Q9Y4L2

    Protein attributes for PLAG1 Gene

    Size:
    500 amino acids
    Molecular mass:
    55909 Da
    Quaternary structure:
    • Interacts with KPNA2, which escorts protein to the nucleus via interaction with nuclear localization signal. Interacts with E3 SUMO-protein ligase PIAS1, PIAS2 and PIAS4.
    Miscellaneous:
    • Residual nuclear import after mutation of the nuclear localization signal is assigned to zinc finger domains of PLAG1
    • When cultured cells transformed by PLAG1 overexpression are injected in nude mouse, rapidly growing tumors (fibrosarcomaS) are observed at the site of inoculation
    SequenceCaution:
    • Sequence=BAD92368.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PLAG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLAG1 Gene

Proteomics data for PLAG1 Gene at MOPED

Post-translational modifications for PLAG1 Gene

  • Acetylated by lysine acetyltransferase EP300; which activates transcriptional capacity. Lysine residues that are sumoylated also seem to be target for acetylation.
  • Sumoylated with SUMO1; which inhibits transcriptional activity, but does not affect nuclear localization. Blockers of sumoylation pathway such as SENP3 and inactive UBE2I increases transcriptional capacity. Sumoylation is increased in the presence of PIAS1
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLAG1 Gene

No data available for DME Specific Peptides for PLAG1 Gene

Domains for PLAG1 Gene

Gene Families for PLAG1 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for PLAG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6DJT9

UniProtKB/Swiss-Prot:

PLAG1_HUMAN :
  • Q6DJT9
Domain:
  • C2H2-type zinc fingers 3 interacts with DNA-binding site G-clusterinc fingers. C2H2-type zinc fingers 6 and 7 interact with DNA-binding site core sequence
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 7 C2H2-type zinc fingers.
genes like me logo Genes that share domains with PLAG1: view

Function for PLAG1 Gene

Molecular function for PLAG1 Gene

GENATLAS Biochemistry: putative pleomorphic adenoma gene 1,not normally expressed in adult tissues,fused with beta catenin in adenomas,with translocation t(3;8)(p21;q12),see ADPL,PSA2 and with TCEA1 t(3;8)(p21;q12) in salivary adenomas (see PSA2)
UniProtKB/Swiss-Prot Function: Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia.

Gene Ontology (GO) - Molecular Function for PLAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 10646861
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 10646861
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9722527
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PLAG1: view
genes like me logo Genes that share phenotypes with PLAG1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLAG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PLAG1 Gene

Localization for PLAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLAG1 Gene

Nucleus. Note=Strong nucleolar localization when sumoylation is inhibited.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLAG1 Gene COMPARTMENTS Subcellular localization image for PLAG1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for PLAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with PLAG1: view

Pathways for PLAG1 Gene

SuperPathways for PLAG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0010628 positive regulation of gene expression --
GO:0010629 negative regulation of gene expression IEA --
GO:0022612 gland morphogenesis IEA --
GO:0035264 multicellular organism growth IEA --
genes like me logo Genes that share ontologies with PLAG1: view

No data available for Pathways by source for PLAG1 Gene

Compounds for PLAG1 Gene

(1) HMDB Compounds for PLAG1 Gene

Compound Synonyms Cas Number PubMed IDs
Zinc
  • Zinc
7440-66-6

(3) Novoseek inferred chemical compound relationships for PLAG1 Gene

Compound -log(P) Hits PubMed IDs
zinc 44.6 12
sialic acid 31.7 5
oligonucleotide 9.89 1
genes like me logo Genes that share compounds with PLAG1: view

Transcripts for PLAG1 Gene

Unigene Clusters for PLAG1 Gene

Pleiomorphic adenoma gene 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLAG1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLAG1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: -
SP3: - -
SP4: - - - - -
SP5:

Relevant External Links for PLAG1 Gene

GeneLoc Exon Structure for
PLAG1
ECgene alternative splicing isoforms for
PLAG1

Expression for PLAG1 Gene

mRNA expression in normal human tissues for PLAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLAG1 Gene

SOURCE GeneReport for Unigene cluster for PLAG1 Gene Hs.14968

mRNA Expression by UniProt/SwissProt for PLAG1 Gene

Q6DJT9-PLAG1_HUMAN
Tissue specificity: Expressed in fetal tissues such as lung, liver and kidney. Not detected or weak detection in normal adult tissues, but highly expressed in salivary gland with benign or malignant pleiomorphic adenomas with or without 8q12 aberrations, with preferential occurrence in benign tumors.
genes like me logo Genes that share expressions with PLAG1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PLAG1 Gene

Orthologs for PLAG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLAG1 35
  • 100 (n)
  • 100 (a)
PLAG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLAG1 35
  • 84.5 (n)
  • 95.99 (a)
PLAG1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLAG1 35
  • 91.78 (n)
  • 97.6 (a)
PLAG1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plag1 35
  • 89.65 (n)
  • 94.59 (a)
Plag1 16
Plag1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLAG1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLAG1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plag1 35
  • 89.85 (n)
  • 94.99 (a)
chicken
(Gallus gallus)
Aves PLAG1 35
  • 86.24 (n)
  • 90.18 (a)
PLAG1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLAG1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plag1 35
  • 81.49 (n)
  • 85.51 (a)
zebrafish
(Danio rerio)
Actinopterygii plag1 35
  • 67.31 (n)
  • 74.52 (a)
plag1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2678 36
  • 16 (a)
ManyToMany
CG42726 36
  • 21 (a)
ManyToMany
Species with no ortholog for PLAG1:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLAG1 Gene

ENSEMBL:
Gene Tree for PLAG1 (if available)
TreeFam:
Gene Tree for PLAG1 (if available)

Paralogs for PLAG1 Gene

Paralogs for PLAG1 Gene

genes like me logo Genes that share paralogs with PLAG1: view

Variants for PLAG1 Gene

Sequence variations from dbSNP and Humsavar for PLAG1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs15584 -- 56,164,707(-) AATAT(A/T)TTTTT utr-variant-3-prime
rs1128143 -- 56,163,820(-) TTAGT(G/T)AACTG utr-variant-3-prime
rs1128144 -- 56,163,682(-) TGTGT(A/G)TATAT utr-variant-3-prime
rs1128145 -- 56,163,663(-) ACACA(C/T)ACATA utr-variant-3-prime
rs4128541 -- 56,202,629(+) CTACT(A/T)TTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLAG1 Gene

Variant ID Type Subtype PubMed ID
nsv890931 CNV Gain 21882294
esv26536 CNV Gain 19812545
nsv442108 CNV CNV 18776908
nsv433401 CNV Gain 18776910

Relevant External Links for PLAG1 Gene

HapMap Linkage Disequilibrium report
PLAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLAG1 Gene

Disorders for PLAG1 Gene

(1) OMIM Diseases for PLAG1 Gene (603026)

UniProtKB/Swiss-Prot

PLAG1_HUMAN
  • Note=A chromosomal aberration involving PLAG1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with constituvely expressed beta-catenin/CTNNB1. Fusion occurs in the 5-regulatory regions, leading to promoter swapping between the 2 genes and activation of PLAG1 expression in adenomas. The chimeric transcript is formed by fusion of CTNNB1 exon 1 to PLAG1 exon 3. Reciprocal fusion transcript consisting of PLAG1 exon 1 and CTNNB1 exon 2-16 is also revealed in some adenomas. Translocation t(3;8)(p21;q12) with transcription elongation factor SII/TCEA1. The fusion transcript is composed of 5-non-coding sequences as well as 63 nucleotides of the coding region of TCEA1 fused to the acceptor splice site of PLAG1 exon 3. The fusion transcript encodes a truncated TCEA1-PLAG1 protein of 90 AA as well as an apparently normal PLAG1 protein. Reciprocal fusion transcript PLAG1-TCEA1 is also present in one adenoma. Translocation t(5;8)(p13;q12) with leukemia inhibitory factor receptor LIFR. This fusion occured in the 5-non-coding sequences of both genes, exchanging regulatory control element while preserving the coding sequences. Translocation t(6;8)(p21.3-22;q13) with Coiled-coil-helix-coiled-coil-helix domain-containing protein 7/CHCHD7. Fusion occurs in the 5 regulatory regions, leading to promoter swapping and up-regulation of PLAG1 expression. Ectopic expression of PLAG1 under the control of promoters of distinct translocation partner genes is a general pathogenetic mechanism for pleiomorphic adenomas with 8q aberrations. These fusion genes are likely to be found in adenomas with normal karyotype as this subgroup of tumors also exhibit PLAG1 activation.
  • Note=A chromosomal aberration involving PLAG1 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal rearrangement with hyaluronic acid synthase 2/HAS2 results in promoter swapping and activation of PLAG1 expression. The breakpoint of HAS2 gene is in PLAG1 intron 1, whereas its coding sequence starts at exon 2 or exon 3. Translocation t(7;8)(p22;q13) with collagen 1A2/COL1A2. Fusion transcript COL1A2-PLAG1 as well as HAS2-PLAG1 encode a full-length PLAG1 protein.

(5) University of Copenhagen DISEASES for PLAG1 Gene

(16) Novoseek inferred disease relationships for PLAG1 Gene

Disease -log(P) Hits PubMed IDs
salivary gland adenoma, pleomorphic 93.9 5
adenoma pleomorphic 89.9 40
lipoma 60.7 2
hepatoblastoma 57.9 3
benign tumor 54.4 1

Relevant External Links for PLAG1

Genetic Association Database (GAD)
PLAG1
Human Genome Epidemiology (HuGE) Navigator
PLAG1
genes like me logo Genes that share disorders with PLAG1: view

Publications for PLAG1 Gene

  1. Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. (PMID: 9020842) Kas K. … Van de Ven W.J.M. (Nat. Genet. 1997) 3 4 23
  2. A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands. (PMID: 9268638) Kas K. … Van de Ven W.J. (Genomics 1997) 2 3 23
  3. The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas results in upregulation of PLAG1 gene expression under control of the LIFR promoter. (PMID: 9525740) Voz M.L. … Van de Ven W.J.M. (Oncogene 1998) 3 4 23
  4. Transcriptional activation capacity of the novel PLAG family of zinc finger proteins. (PMID: 9722527) Kas K. … Van de Ven W.J.M. (J. Biol. Chem. 1998) 3 4 23
  5. Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (PMID: 10029085) Astroem A.-K. … Stenman G. (Cancer Res. 1999) 3 4 23

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