Entity Details

Primary name PLAGL1
Entity type gene
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Details

PrimaryID5325
RefseqGeneNG_009384
SymbolPLAGL1
NamePLAG1 like zinc finger 1
Chromosome6
Location6q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLAL1_HUMAN

GO terms

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GOName
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006915 apoptotic process
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0016604 nuclear body
GO:0043231 intracellular membrane-bounded organelle
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
601410 OMIMDiabetes mellitus, transient neonatal, 1 (TNDM1)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. 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).