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HUMAN:ARF

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CDKN2A (ECO:0000312 with EMBL:AAM77919.1, ECO:0000312 with HGNC:HGNC:1787) (synonyms: CDKN2 (ECO:0000312 with EMBL:AAC60649.1), MLM)
Protein Name(s) Tumor suppressor ARF (ECO:0000305)

Alternative reading frame (ECO:0000303 with PMID:9724636[1]) ARF (ECO:0000303 with PMID:9724636[1]) Cyclin-dependent kinase inhibitor 2A (ECO:0000312 with HGNC:HGNC:1787) p14ARF (ECO:0000303 with PMID:9724636[1])

External Links
UniProt Q8N726
EMBL S78535
U38945
AF527803
AL449423
CH471071
CH471071
BC015960
BC021998
U26727
BT007020
CCDS CCDS6511.2
PIR I39004
RefSeq NP_478102.2
UniGene Hs.512599
ProteinModelPortal Q8N726
SMR Q8N726
BioGrid 107463
CORUM Q8N726
DIP DIP-24171N
IntAct Q8N726
MINT Q8N726
iPTMnet Q8N726
BioMuta UBR5
DMDM 384872321
MaxQB Q8N726
PeptideAtlas Q8N726
PRIDE Q8N726
ProteomicsDB 72258
DNASU 1029
Ensembl ENST00000530628
ENST00000579755
GeneID 1029
UCSC uc003zpl.4
CTD 1029
DisGeNET 1029
EuPathDB HostDB:ENSG00000147889.16
GeneCards CDKN2A
HGNC HGNC:1787
HPA CAB000093
CAB000445
CAB018232
HPA047838
MalaCards CDKN2A
MIM 600160
neXtProt NX_Q8N726
OpenTargets ENSG00000147889
PharmGKB PA106
GeneTree ENSGT00390000004527
HOGENOM HOG000111485
HOVERGEN HBG071056
Reactome R-HSA-2559580
R-HSA-2559585
R-HSA-3108214
R-HSA-3232118
R-HSA-6804757
R-HSA-69541
R-HSA-8941858
SIGNOR Q8N726
ChiTaRS CDKN2A
GenomeRNAi 1029
Proteomes UP000005640
Bgee ENSG00000147889
CleanEx HS_CDKN2A
ExpressionAtlas Q8N726
Genevisible Q8N726
GO GO:0005739
GO:0005730
GO:0005654
GO:0005634
GO:0032991
GO:0097718
GO:0003677
GO:0097371
GO:0002039
GO:0019789
GO:0008134
GO:1990948
GO:0055105
GO:0006919
GO:1990000
GO:0008637
GO:0000422
GO:0007050
GO:0090398
GO:0051882
GO:0030889
GO:0008285
GO:0033088
GO:0006469
GO:2000435
GO:1903051
GO:1904667
GO:2000059
GO:0051444
GO:0043065
GO:0071158
GO:0043517
GO:0010628
GO:1900182
GO:0033235
GO:1901798
GO:0045944
GO:0045893
GO:0031648
GO:0070534
GO:0000209
GO:0050821
GO:1902510
GO:0010389
GO:0046825
GO:0031647
GO:1903214
GO:0006364
GO:0048103
GO:0006351
InterPro IPR010868
Pfam PF07392

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:2000435

negative regulation of protein neddylation

PMID:18560357[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1904667

negative regulation of ubiquitin protein ligase activity

PMID:18560357[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000059

negative regulation of ubiquitin-dependent protein catabolic process

PMID:18560357[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:1990948

ubiquitin ligase inhibitor activity

PMID:18560357[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1990000

amyloid fibril formation

PMID:12630860[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0097718

disordered domain specific binding

PMID:12630860[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q00987

F

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:27323397[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:17310983[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050821

protein stabilization

PMID:17310983[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0043065

positive regulation of apoptotic process

PMID:22094112[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:22094112[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:1902510

regulation of apoptotic DNA fragmentation

PMID:12082630[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0090398

cellular senescence

PMID:14966292[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0055105

ubiquitin-protein transferase inhibitor activity

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

F

Seeded From UniProt

complete

involved_in

GO:0051444

negative regulation of ubiquitin-protein transferase activity

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

P

Seeded From UniProt

complete

involved_in

GO:0048103

somatic stem cell division

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

P

Seeded From UniProt

complete

involved_in

GO:0033235

positive regulation of protein sumoylation

PMID:19057511[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0033088

negative regulation of immature T cell proliferation in thymus

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

P

Seeded From UniProt

complete

involved_in

GO:0031648

protein destabilization

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0031647

regulation of protein stability

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

P

Seeded From UniProt

complete

involved_in

GO:0030889

negative regulation of B cell proliferation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q64364

P

Seeded From UniProt

complete

involved_in

GO:0010389

regulation of G2/M transition of mitotic cell cycle

PMID:15582998[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008637

apoptotic mitochondrial changes

PMID:12082630[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0008134

transcription factor binding

PMID:19057511[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P18146

F

Seeded From UniProt

complete

involved_in

GO:0007050

cell cycle arrest

PMID:15582998[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

PMID:12082630[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006469

negative regulation of protein kinase activity

PMID:15582998[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:17110379[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

PMID:17110379[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:11800646[13]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0070534

protein K63-linked ubiquitination

PMID:18305112[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:17569660[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:17569660[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

PMID:17569660[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:18305112[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

PMID:18305112[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000209

protein polyubiquitination

PMID:18305112[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0019789

SUMO transferase activity

PMID:15355988[16]

ECO:0000269

experimental evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0016925

protein sumoylation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0019789

P

Seeded From UniProt

complete

involved_in

GO:0006915

apoptotic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010868

P

Seeded From UniProt

complete

involved_in

GO:0007050

cell cycle arrest

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010868

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010868

P

Seeded From UniProt

complete

involved_in

GO:1900182

positive regulation of protein localization to nucleus

PMID:16173922[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901798

positive regulation of signal transduction by p53 class mediator

PMID:16173922[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000059

negative regulation of ubiquitin-dependent protein catabolic process

PMID:16173922[17]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0097371

MDM2/MDM4 family protein binding

PMID:16173922[17]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q00987

F

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:16173922[17]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0097371

MDM2/MDM4 family protein binding

PMID:9529249[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q00987

F

Seeded From UniProt

complete

involved_in

GO:0071158

positive regulation of cell cycle arrest

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050821

protein stabilization

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050821

protein stabilization

PMID:10360174[18]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046825

regulation of protein export from nucleus

PMID:10360174[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0043517

positive regulation of DNA damage response, signal transduction by p53 class mediator

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032991

protein-containing complex

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0031648

protein destabilization

PMID:9529249[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

colocalizes_with

GO:0016604

nuclear body

PMID:10360174[18]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:10360174[18]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

PMID:10360174[18]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0002039

p53 binding

PMID:9529249[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P04637

F

Seeded From UniProt

complete

involved_in

GO:1903214

regulation of protein targeting to mitochondrion

PMID:25217637[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

UniProtKB:Q9BXM7

P

has_regulation_target:(UniProtKB:O60260)

Seeded From UniProt

complete

involved_in

GO:1903051

negative regulation of proteolysis involved in cellular protein catabolic process

PMID:25217637[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

UniProtKB:Q9BXM7

P

has_regulation_target:(UniProtKB:Q9BXM7)

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

PMID:25217637[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000422

autophagy of mitochondrion

PMID:25217637[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051882

mitochondrial depolarization

PMID:25217637[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-6804998
Reactome:R-HSA-6804996
Reactome:R-HSA-4568846
Reactome:R-HSA-3209111
Reactome:R-HSA-2997706

ECO:0000304

author statement supported by traceable reference used in manual assertion





C

Seeded From UniProt

complete

involved_in

GO:0006364

rRNA processing

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0698

P

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0496
UniProtKB-SubCell:SL-0173

C

Seeded From UniProt

complete

involved_in

GO:0006915

apoptotic process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0053

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539

C

Seeded From UniProt

complete

involved_in

GO:0007049

cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0131

P

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0188

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0190

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 1.2 Stott, FJ et al. (1998) The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J. 17 5001-14 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 Horn, HF & Vousden, KH (2008) Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway. Oncogene 27 5774-84 PubMed GONUTS page
  3. 3.0 3.1 Bothner, B et al. (2003) Peptides derived from two dynamically disordered proteins self-assemble into amyloid-like fibrils. J. Am. Chem. Soc. 125 3200-1 PubMed GONUTS page
  4. Lee, S et al. (2017) GLTSCR2 promotes the nucleoplasmic translocation and subsequent degradation of nucleolar ARF. Oncotarget 8 16293-16302 PubMed GONUTS page
  5. 5.0 5.1 Chen, D et al. (2007) Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. Oncogene 26 5029-37 PubMed GONUTS page
  6. 6.0 6.1 Watari, A et al. (2012) A novel proapoptotic gene PANO encodes a post-translational modulator of the tumor suppressor p14ARF. Exp. Cell Res. 318 187-95 PubMed GONUTS page
  7. 7.0 7.1 7.2 Hemmati, PG et al. (2002) Adenovirus-mediated overexpression of p14(ARF) induces p53 and Bax-independent apoptosis. Oncogene 21 3149-61 PubMed GONUTS page
  8. Shamanin, VA & Androphy, EJ (2004) Immortalization of human mammary epithelial cells is associated with inactivation of the p14ARF-p53 pathway. Mol. Cell. Biol. 24 2144-52 PubMed GONUTS page
  9. 9.0 9.1 Yu, J et al. (2009) PTEN regulation by Akt-EGR1-ARF-PTEN axis. EMBO J. 28 21-33 PubMed GONUTS page
  10. 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 Zhang, Y et al. (1998) ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 92 725-34 PubMed GONUTS page
  11. 11.0 11.1 11.2 Normand, G et al. (2005) p14ARF induces G2 cell cycle arrest in p53- and p21-deficient cells by down-regulating p34cdc2 kinase activity. J. Biol. Chem. 280 7118-30 PubMed GONUTS page
  12. 12.0 12.1 Tompkins, VS et al. (2007) A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability. J. Biol. Chem. 282 1322-33 PubMed GONUTS page
  13. Korshunov, A & Golanov, A (2002) Immunohistochemical analysis of p18INK4C and p14ARF protein expression in 117 oligodendrogliomas: correlation with tumor grade and clinical outcome. Arch. Pathol. Lab. Med. 126 42-8 PubMed GONUTS page
  14. 14.0 14.1 14.2 14.3 Huang, Y et al. (2008) Tumor suppressor ARF promotes non-classic proteasome-independent polyubiquitination of COMMD1. J. Biol. Chem. 283 11453-60 PubMed GONUTS page
  15. 15.0 15.1 15.2 Zhou, Y et al. (2007) Activation of p53 by MEG3 non-coding RNA. J. Biol. Chem. 282 24731-42 PubMed GONUTS page
  16. Woods, YL et al. (2004) p14 Arf promotes small ubiquitin-like modifier conjugation of Werners helicase. J. Biol. Chem. 279 50157-66 PubMed GONUTS page
  17. 17.0 17.1 17.2 17.3 17.4 Wang, J et al. (2006) A novel ARF-binding protein (LZAP) alters ARF regulation of HDM2. Biochem. J. 393 489-501 PubMed GONUTS page
  18. 18.0 18.1 18.2 18.3 18.4 Zhang, Y & Xiong, Y (1999) Mutations in human ARF exon 2 disrupt its nucleolar localization and impair its ability to block nuclear export of MDM2 and p53. Mol. Cell 3 579-91 PubMed GONUTS page
  19. 19.0 19.1 19.2 19.3 19.4 Grenier, K et al. (2014) Short mitochondrial ARF triggers Parkin/PINK1-dependent mitophagy. J. Biol. Chem. 289 29519-30 PubMed GONUTS page