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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
RNA polymerase II subunit RPB1
RPB1
|
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gptkbp:associatedWith
|
various cancers
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
|
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gptkbp:biologicalProcess
|
transcription
DNA-directed RNA polymerase activity
|
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gptkbp:cellularComponent
|
gptkb:nucleus
|
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gptkbp:chromosomeArm
|
17p13.1
|
|
gptkbp:encodes
|
RNA polymerase II subunit A
|
|
gptkbp:Entrez_Gene_ID
|
5430
ENSG00000116044
|
|
gptkbp:essentialGene
|
yes
|
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gptkbp:expressedIn
|
ubiquitous
|
|
gptkbp:function
|
transcription of DNA into mRNA
catalytic subunit of RNA polymerase II
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9177
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
POLR2A gene
|
|
gptkbp:interactsWith
|
gptkb:CDK7
gptkb:CDK9
gptkb:Mediator_complex
gptkb:TFIIB
gptkb:TFIIF
|
|
gptkbp:length
|
55 exons
|
|
gptkbp:locatedOnChromosome
|
17
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
developmental delay
cancer susceptibility
|
|
gptkbp:OMIM
|
180660
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Polr2a
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
|
gptkbp:UniProtID
|
P24928
|
|
gptkbp:bfsParent
|
gptkb:RNA_polymerase_III
|
|
gptkbp:bfsLayer
|
6
|