Reactome | p16INK4A A20P [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9630803] Orlic-Milacic, Marija, 2018-12-03
crossReference	[DatabaseIdentifier:12021462] Mondo:0004974 [DatabaseIdentifier:9630811] COSMIC:COSV58693206
dbId	9630805
disease	[Disease:1614289] melanoma [Disease:8853117] lung adenocarcinoma [Disease:1500699] lung cancer [Disease:9630809] adrenal gland pheochromocytoma [Disease:1500689] cancer
displayName	p16INK4A A20P [cytosol]
endCoordinate	156
hasModifiedResidue	[ReplacedResidue:9630802] L-alanine 20 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:9630820] A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6 [LiteratureReference:9632507] Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information
maxDepth	1
memberOf	[CandidateSet:R-HSA-9630804] p16INK4A LoF mutants (CDK4/6) [cytosol] - Homo sapiens
modified	[InstanceEdit:9645191] Orlic-Milacic, Marija, 2019-05-06
name	p16INK4A A20P p16INK4A Ala20Pro CDKN2A A20P CDKN2A Ala20Pro
referenceEntity	[ReferenceGeneProduct:uniprot:P42771] UniProt:P42771 CDKN2A
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9630805
startCoordinate	1
summation	[Summation:9630836] p16INK4A A20P mutant is produced by a missense mutation in t...

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