p14ARF mutant does not translocate to the nucleus

Stable Identifier
R-HSA-9646295
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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p14ARF mutant does not translocate to the nucleus
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A germline mutation affecting exon 1beta of the CDKN2A locus is associated with a familial melanoma syndrome. The mutation represents an insertion of 16 nucleotides (CGGCCCGCCGCGAGTG) between coding bases 60 and 61 in exon 1beta. This insertion results in a frameshift, starting at arginine codon at position 21 of p14ARF, with the first amino acid changed being valine at position 22, and ending with a premature stop codon at position 67. The mutant protein p14ARF V22Pfs*46 (p14ARF 60ins16) is unable to translocate to the nucleus and stabilize TP53 (Rizos, Puig et al. 2001).
Literature References
PubMed ID Title Journal Year
11571653 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF

Rizos, H, Puig, S, Badenas, C, Malvehy, J, Darmanian, AP, Jiménez, L, Milà, M, Kefford, RF

Oncogene 2001
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as an event of
Normal reaction
p14ARF translocates to the nucleus (Homo sapiens)
Functional status

Loss of function of p14ARF R21RfsTER47 [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
Mondo
Authored
Orlic-Milacic, M  (2019-06-28)
Reviewed
Rizos, H  (2019-07-08)
Bennett, DC  (2019-08-12)
Created
Orlic-Milacic, M  (2019-05-22)
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