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Aliases for PLAGL1 Gene

Aliases for PLAGL1 Gene

  • Pleiomorphic Adenoma Gene-Like 1 2 3
  • LOT1 3 4 6
  • ZAC 3 4 6
  • Pleiomorphic Adenoma-Like Protein 1 3 4
  • Lost On Transformation 1 3 4
  • Tumor Suppressor ZAC 3 4
  • LOT-1 3 4
  • Zinc Finger Protein PLAGL1 3
  • PLAG-Like 1 3
  • 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 with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for PLAGL1 Gene

PLAGL1 (Pleiomorphic Adenoma Gene-Like 1) is a Protein Coding gene. Diseases associated with PLAGL1 include paternal uniparental disomy of chromosome 6 and adenoma. GO annotations related to this gene include sequence-specific DNA binding RNA polymerase II transcription factor activity. An important paralog of this gene is ZNF768.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLAGL1 Gene

Genomics for PLAGL1 Gene

Regulatory Elements for PLAGL1 Gene

Genomic Location for PLAGL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PLAGL1 Gene at MOPED

Post-translational modifications for PLAGL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLAGL1 Gene

Domains for PLAGL1 Gene

Gene Families for PLAGL1 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for PLAGL1 Gene

Suggested Antigen Peptide Sequences for PLAGL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM63

UniProtKB/Swiss-Prot:

PLAL1_HUMAN :
  • Q9UM63
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 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:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 9671765
GO:0003677 DNA binding IDA 15888725
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PLAGL1: view
genes like me logo Genes that share phenotypes with PLAGL1: view

Animal Models for PLAGL1 Gene

MGI Knock Outs for PLAGL1:

miRNA for PLAGL1 Gene

miRTarBase miRNAs that target PLAGL1

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

Localization for PLAGL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLAGL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLAGL1 Gene COMPARTMENTS Subcellular localization image for PLAGL1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PLAGL1: view

Pathways for PLAGL1 Gene

SuperPathways for PLAGL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0006915 apoptotic process TAS 9671765
GO:0007050 cell cycle arrest TAS 9184226
GO:0010468 regulation of gene expression --
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with PLAGL1: view

No data available for Pathways by source for PLAGL1 Gene

Compounds for PLAGL1 Gene

(4) Novoseek inferred chemical compound relationships for PLAGL1 Gene

Compound -log(P) Hits PubMed IDs
zinc 61.1 16
octreotide 27.2 3
adenylate 6.61 1
testosterone 0 2
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:

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 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 (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PLAGL1 Gene

SOURCE GeneReport for Unigene cluster for PLAGL1 Gene Hs.743225

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

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 35
  • 99.71 (n)
  • 99.57 (a)
PLAGL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLAGL1 35
  • 86.73 (n)
  • 84.52 (a)
PLAGL1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLAGL1 35
  • 90.78 (n)
  • 91.14 (a)
PLAGL1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plagl1 35
  • 77.59 (n)
  • 70.19 (a)
Plagl1 16
Plagl1 36
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLAGL1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLAGL1 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plagl1 35
  • 76.14 (n)
  • 69.87 (a)
chicken
(Gallus gallus)
Aves LOC769676 35
  • 62.69 (n)
  • 59.38 (a)
PLAGL1 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plagl2 36
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2678 36
  • 14 (a)
ManyToMany
CG42726 36
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOT3 38
MOT3 38
Species with no ortholog for PLAGL1:
  • 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

Selected 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 MAF
rs3544 -- 143,941,303(+) GCCAG(C/T)CATCA utr-variant-3-prime
rs12417 -- 143,940,303(-) ATCTT(A/G)CAATT utr-variant-3-prime
rs727612 -- 144,056,533(+) CTTTT(C/T)ATTGC intron-variant
rs768874 -- 143,974,397(+) GGTTG(C/G)GGGGG intron-variant
rs1049846 -- 143,940,343(-) TTTCC(A/G)TAAAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv830830 CNV Gain 17160897
nsv5516 CNV Loss 18451855
nsv510056 CNV Loss 20534489
esv268348 CNV Insertion 20981092
nsv5517 CNV Insertion 18451855

Relevant External Links for PLAGL1 Gene

HapMap Linkage Disequilibrium report
PLAGL1
Human Gene Mutation Database (HGMD)
PLAGL1

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

Disorders for PLAGL1 Gene

(1) OMIM Diseases for PLAGL1 Gene (603044)

(3) University of Copenhagen DISEASES for PLAGL1 Gene

(13) Novoseek inferred disease relationships for PLAGL1 Gene

Disease -log(P) Hits PubMed IDs
neonatal diabetes mellitus 94.4 7
allelic imbalance 66.9 2
adenoma pleomorphic 66.6 1
pituitary tumors 59.1 5
growth retardation 51.9 2

Relevant External Links for PLAGL1

GeneTests
PLAGL1
GeneReviews
PLAGL1
Genetic Association Database (GAD)
PLAGL1
Human Genome Epidemiology (HuGE) Navigator
PLAGL1
genes like me logo Genes that share disorders with PLAGL1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. (PMID: 19155788) Goumidi L. … Meirhaeghe A. (J. Hypertens. 2009) 3 23 48
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for PLAGL1 Gene

Sources for PLAGL1 Gene

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