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Aliases for PLAGL1 Gene

Aliases for PLAGL1 Gene

  • PLAG1 Like Zinc Finger 1 2 3 5
  • Pleiomorphic Adenoma Gene-Like 1 2 3
  • Lost On Transformation 1 3 4
  • Tumor Suppressor ZAC 3 4
  • LOT1 3 4
  • ZAC 3 4
  • Pleiomorphic Adenoma-Like Protein 1 4
  • Zinc Finger Protein PLAGL1 3
  • PLAG-Like 1 3
  • LOT-1 4
  • ZAC1 3

External Ids for PLAGL1 Gene

Previous GeneCards Identifiers for PLAGL1 Gene

  • GC06M144108
  • GC06M144242
  • GC06M144303
  • GC06M141825
  • GC06M144261

Summaries for PLAGL1 Gene

Entrez Gene Summary for PLAGL1 Gene

  • This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]

GeneCards Summary for PLAGL1 Gene

PLAGL1 (PLAG1 Like Zinc Finger 1) is a Protein Coding gene. Diseases associated with PLAGL1 include Diabetes Mellitus, Transient Neonatal, 1 and Paternal Uniparental Disomy Of Chromosome 6. Among its related pathways are Gene Expression and Aryl Hydrocarbon Receptor. GO annotations related to this gene include RNA polymerase II transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is PLAG1.

UniProtKB/Swiss-Prot for PLAGL1 Gene

  • Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide.

Gene Wiki entry for PLAGL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLAGL1 Gene

Genomics for PLAGL1 Gene

Regulatory Elements for PLAGL1 Gene

Enhancers for PLAGL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G143960 1.4 Ensembl ENCODE 22.8 +97.1 97081 13.1 FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 PLAGL1 PHACTR2-AS1 LTV1 PHACTR2 ZC2HC1B GC06P143999
GH06G144149 1.7 FANTOM5 ENCODE dbSUPER 17.2 -87.3 -87280 4.8 HDGF PKNOX1 AGO1 WRNIP1 SIN3A ZNF2 YY1 CBX5 ZNF143 ZNF207 STX11 PLAGL1 TPT1P4
GH06G144062 1.4 FANTOM5 ENCODE 17.4 +0.4 400 2.9 CREB3L1 AGO1 ARID4B ZNF2 YY1 SLC30A9 ZNF766 ZNF143 KLF13 SP3 PLAGL1 SF3B5 STX11 PHACTR2 GC06P144049
GH06G144155 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -93.2 -93234 5.1 CTCF PKNOX1 JUN TEAD4 MAX BACH1 CEBPG ZIC2 ZBTB40 RAD21 STX11 PLAGL1 ENSG00000225311 TPT1P4
GH06G144035 0.6 ENCODE 25.8 +27.8 27847 2.1 CTCF ZNF792 CEBPB MAX CEBPG RAD21 KLF16 MYC TRIM28 PLAGL1 PHACTR2-AS1 LINC01277 LOC100131041 GC06P144049
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLAGL1 on UCSC Golden Path with GeneCards custom track

Promoters for PLAGL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000204402 299 1401 CREB3L1 AGO1 ARID4B ZNF2 SLC30A9 ZNF766 KLF13 SP3 SP5 MXD4

Genomic Location for PLAGL1 Gene

Chromosome:
6
Start:
143,940,300 bp from pter
End:
144,064,599 bp from pter
Size:
124,300 bases
Orientation:
Minus strand

Genomic View for PLAGL1 Gene

Genes around PLAGL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLAGL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLAGL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLAGL1 Gene

Proteins for PLAGL1 Gene

  • Protein details for PLAGL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM63-PLAL1_HUMAN
    Recommended name:
    Zinc finger protein PLAGL1
    Protein Accession:
    Q9UM63
    Secondary Accessions:
    • B2RBA4
    • B2RCM8
    • E1P595
    • E1P597
    • O76019
    • Q7Z3V8
    • Q92981
    • Q96JR9
    • Q9UIZ0

    Protein attributes for PLAGL1 Gene

    Size:
    463 amino acids
    Molecular mass:
    50819 Da
    Quaternary structure:
    • Interacts with THRSP.

    Alternative splice isoforms for PLAGL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLAGL1 Gene

Post-translational modifications for PLAGL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PLAGL1 Gene

Domains & Families for PLAGL1 Gene

Gene Families for PLAGL1 Gene

Suggested Antigen Peptide Sequences for PLAGL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM63

UniProtKB/Swiss-Prot:

PLAL1_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with PLAGL1: view

Function for PLAGL1 Gene

Molecular function for PLAGL1 Gene

GENATLAS Biochemistry:
pleomorphic adenoma gene-like 1,zinc finger protein,ubiquitously expressed from the paternal allele,maternally imprinted,regulating apoptosis and cell cycle arrest,growth suppressor gene,transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide,putative candidate for transcript neonatal diabetes mellitus (TNDM)
UniProtKB/Swiss-Prot Function:
Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide.

Gene Ontology (GO) - Molecular Function for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 9671765
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 9671765
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 15888726
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PLAGL1: view
genes like me logo Genes that share phenotypes with PLAGL1: view

Human Phenotype Ontology for PLAGL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLAGL1 Gene

MGI Knock Outs for PLAGL1:

Animal Model Products

CRISPR Products

miRNA for PLAGL1 Gene

miRTarBase miRNAs that target PLAGL1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLAGL1 Gene

Localization for PLAGL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLAGL1 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 PLAGL1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IDA --
GO:0016604 nuclear body IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PLAGL1: view

Pathways & Interactions for PLAGL1 Gene

genes like me logo Genes that share pathways with PLAGL1: view

Gene Ontology (GO) - Biological Process for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006915 apoptotic process TAS 9671765
genes like me logo Genes that share ontologies with PLAGL1: view

No data available for SIGNOR curated interactions for PLAGL1 Gene

Drugs & Compounds for PLAGL1 Gene

(3) Drugs for PLAGL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PLAGL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLAGL1: view

Transcripts for PLAGL1 Gene

Unigene Clusters for PLAGL1 Gene

Pleiomorphic adenoma gene-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLAGL1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7 ^ 8a ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - - - - -
SP19: - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - -
SP22: - - - - - - - -
SP23: - - - - - - - - - -
SP24:
SP25:
SP26:
SP27:
SP28:
SP29: - - -

ExUns: 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h · 10i ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g · 11h
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - - - - - - - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - - -
SP14: -
SP15: - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - -
SP18: - - -
SP19: - - - - - - - - - - - - -
SP20:
SP21: -
SP22:
SP23: -
SP24: - - - - - - - - - - - -
SP25: - - - - - - - - - - - -
SP26: - - - - - - - - - - -
SP27:
SP28:
SP29:

Relevant External Links for PLAGL1 Gene

GeneLoc Exon Structure for
PLAGL1
ECgene alternative splicing isoforms for
PLAGL1

Expression for PLAGL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLAGL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLAGL1 Gene

This gene is overexpressed in Pituitary (x4.0).

Protein differential expression in normal tissues from HIPED for PLAGL1 Gene

This gene is overexpressed in Plasma (41.8) and Tlymphocyte (27.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLAGL1 Gene



Protein tissue co-expression partners for PLAGL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLAGL1 Gene:

PLAGL1

SOURCE GeneReport for Unigene cluster for PLAGL1 Gene:

Hs.743225

Evidence on tissue expression from TISSUES for PLAGL1 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLAGL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PLAGL1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PLAGL1 Gene

Orthologs for PLAGL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PLAGL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLAGL1 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia PLAGL1 34 35
  • 90.78 (n)
cow
(Bos Taurus)
Mammalia PLAGL1 34 35
  • 86.73 (n)
mouse
(Mus musculus)
Mammalia Plagl1 34 16 35
  • 77.59 (n)
rat
(Rattus norvegicus)
Mammalia Plagl1 34
  • 76.14 (n)
oppossum
(Monodelphis domestica)
Mammalia PLAGL1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLAGL1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC769676 34
  • 62.69 (n)
PLAGL1 35
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plagl2 35
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42726 35
  • 20 (a)
ManyToMany
CG2678 35
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOT3 37 37
Species where no ortholog for PLAGL1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLAGL1 Gene

ENSEMBL:
Gene Tree for PLAGL1 (if available)
TreeFam:
Gene Tree for PLAGL1 (if available)

Paralogs for PLAGL1 Gene

Paralogs for PLAGL1 Gene

(363) SIMAP similar genes for PLAGL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PLAGL1: view

Variants for PLAGL1 Gene

Sequence variations from dbSNP and Humsavar for PLAGL1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000000069 -- 144,007,285(+) TACGC(A/G)GAGGG intron-variant, nc-transcript-variant
rs1000050174 -- 144,013,311(+) AATAC(C/G)ACATG intron-variant
rs1000094904 -- 144,014,976(+) ATAAA(C/T)TTCTA intron-variant
rs1000136351 -- 143,960,497(+) GCTGC(A/G)AGGCA intron-variant, utr-variant-5-prime
rs1000136884 -- 144,057,768(+) ACCAC(A/G)CCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLAGL1 Gene

Variant ID Type Subtype PubMed ID
esv3310558 CNV novel sequence insertion 20981092
esv3348178 CNV insertion 20981092
esv3398585 CNV insertion 20981092
esv3402914 CNV insertion 20981092
esv3419408 CNV insertion 20981092
esv3571437 CNV loss 25503493
nsv510056 OTHER sequence alteration 20534489
nsv5516 CNV deletion 18451855
nsv5517 CNV insertion 18451855
nsv830830 CNV gain 17160897

Variation tolerance for PLAGL1 Gene

Residual Variation Intolerance Score: 33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLAGL1 Gene

Human Gene Mutation Database (HGMD)
PLAGL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLAGL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLAGL1 Gene

Disorders for PLAGL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PLAGL1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, transient neonatal, 1
  • diabetes mellitus, transient neonatal
paternal uniparental disomy of chromosome 6
  • upd(6)pat
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
adenoma
  • acinar cell adenoma
pleomorphic adenoma
  • mixed tumor of the salivary gland
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PLAGL1

Genetic Association Database (GAD)
PLAGL1
Human Genome Epidemiology (HuGE) Navigator
PLAGL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLAGL1
genes like me logo Genes that share disorders with PLAGL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLAGL1 Gene

Publications for PLAGL1 Gene

  1. 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) 2 3 4 22 64
  2. Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. (PMID: 19155788) Goumidi L. … Meirhaeghe A. (J. Hypertens. 2009) 3 22 46 64
  3. Human Spot 14 protein is a p53-dependent transcriptional coactivator via the recruitment of thyroid receptor and Zac1. (PMID: 18299245) Chou W.Y. … Huang S.M. (Int. J. Biochem. Cell Biol. 2008) 3 4 22 64
  4. Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. (PMID: 11313869) Bilanges B. … Journot L. (Oncogene 2001) 3 4 22 64
  5. hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. (PMID: 9671765) Varrault A. … Journot L. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 64

Products for PLAGL1 Gene

Sources for PLAGL1 Gene

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