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 i... See more...

Aliases for PLAGL1 Gene

Aliases for PLAGL1 Gene

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

External Ids for PLAGL1 Gene

Previous GeneCards Identifiers for PLAGL1 Gene

  • GC06M143884
  • 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 Transient Neonatal Diabetes Mellitus and Neonatal Diabetes Mellitus. Among its related pathways are Regulation of TP53 Activity and TP53 Regulates Transcription of Cell Cycle Genes. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity, RNA polymerase II-specific and DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is PLAG1.

UniProtKB/Swiss-Prot Summary for PLAGL1 Gene

  • Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.

Gene Wiki entry for PLAGL1 Gene

Additional gene information for PLAGL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLAGL1 Gene

Genomics for PLAGL1 Gene

GeneHancer (GH) Regulatory Elements for PLAGL1 Gene

Promoters and enhancers for PLAGL1 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 PLAGL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLAGL1 gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • En-1
  • Msx-1

Genomic Locations for PLAGL1 Gene

Genomic Locations for PLAGL1 Gene
chr6:143,940,300-144,064,599
(GRCh38/hg38)
Size:
124,300 bases
Orientation:
Minus strand
chr6:144,261,437-144,385,735
(GRCh37/hg19)
Size:
124,299 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

No data available for DME Specific Peptides for PLAGL1 Gene

Domains & Families for PLAGL1 Gene

Gene Families for PLAGL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PLAGL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLAGL1 Gene

GenScript: Design optimal peptide antigens:
  • Pleiomorphic adenoma gene-like protein 1 (A1YLA1_HUMAN)
  • Pleiomorphic adenoma gene-like protein 1 (A1YLA2_HUMAN)
  • Tumor supressor ZAC (PLAL1_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.
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)

Phenotypes From GWAS Catalog for PLAGL1 Gene

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 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 9671765
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 15888726
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

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 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Golgi apparatus (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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

SIGNOR curated interactions for PLAGL1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PLAGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006915 apoptotic process TAS 9671765
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS --
GO:0007050 cell cycle arrest TAS 9184226
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 9671765
genes like me logo Genes that share ontologies with PLAGL1: view

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

CRISPR 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 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
Regions:
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

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 33 32
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLAGL1 33 32
  • 90.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLAGL1 33 32
  • 86.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plagl1 17 33 32
  • 77.59 (n)
rat
(Rattus norvegicus)
Mammalia Plagl1 32
  • 76.14 (n)
oppossum
(Monodelphis domestica)
Mammalia PLAGL1 33
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLAGL1 33
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC769676 32
  • 62.69 (n)
PLAGL1 33
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plagl2 33
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42726 33
  • 20 (a)
ManyToMany
CG2678 33
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOT3 35 35
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)
Aminode:
Evolutionary constrained regions (ECRs) for PLAGL1: view image

Paralogs for PLAGL1 Gene

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

  • PLAL1_HUMAN
  • A1YLA1_HUMAN
  • A1YLA2_HUMAN
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 Variation AA Info Type
rs1000000069 -- 144,007,285(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000050174 -- 144,013,311(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000094904 -- 144,014,976(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000136351 -- 143,960,497(-) G/A 5_prime_UTR_variant, intron_variant
rs1000136884 -- 144,057,768(-) G/A genic_upstream_transcript_variant, 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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
transient neonatal diabetes mellitus
  • tndm1
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
pleomorphic adenoma
  • mixed tumor of the salivary gland
paternal uniparental disomy of chromosome 6
  • upd(6)pat
diabetes mellitus, transient neonatal, 1
  • tndm1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLAL1_HUMAN
  • Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]: An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. {ECO:0000269 PubMed:11935319}. Note=The gene represented in this entry is involved in disease pathogenesis. Imprinted expression of PLAGL1 is relaxed in patients with transient neonatal diabetes (TND) (PubMed:11935319). Aberrant hypomethylation of the TND differentially methylated region within the PLAGL1 promoter as well as other imprinted loci at chromosome 6q24 is caused by ZFP57 mutations (PubMed:18622393). {ECO:0000269 PubMed:11935319, ECO:0000269 PubMed:18622393}.

Additional Disease Information for PLAGL1

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

No data available for 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 WJ (The Journal of biological chemistry 1998) 2 3 4 23 56
  2. Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. (PMID: 19155788) Goumidi L … Meirhaeghe A (Journal of hypertension 2009) 3 23 43 56
  3. Human Spot 14 protein is a p53-dependent transcriptional coactivator via the recruitment of thyroid receptor and Zac1. (PMID: 18299245) Chou WY … Huang SM (The international journal of biochemistry & cell biology 2008) 3 4 23 56
  4. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. (PMID: 11935319) Mackay DJ … Robinson DO (Human genetics 2002) 3 4 23 56
  5. 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 56

Products for PLAGL1 Gene