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UniProtKB - Q8N726 (ARF_HUMAN)

Entry version 181 (25 May 2022)
Sequence version 2 (18 Apr 2012)
Previous versions | rss
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Protein

Tumor suppressor ARF

Gene

CDKN2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. Isoform smARF may be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP.

12 Publications

Caution

The proteins described here are encoded by the gene CDKN2A, but are completely unrelated in terms of sequence and function to cyclin-dependent kinase inhibitor 2A (AC P42771) which is encoded by the same gene.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processApoptosis, Cell cycle, rRNA processing, Transcription, Transcription regulation, Ubl conjugation pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8N726

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-111471, Apoptotic factor-mediated response
R-HSA-2559580, Oxidative Stress Induced Senescence
R-HSA-2559585, Oncogene Induced Senescence
R-HSA-3108214, SUMOylation of DNA damage response and repair proteins
R-HSA-3232118, SUMOylation of transcription factors
R-HSA-6804757, Regulation of TP53 Degradation
R-HSA-69541, Stabilization of p53
R-HSA-8941858, Regulation of RUNX3 expression and activity
R-HSA-9645722, Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
R-HSA-9646303, Evasion of Oncogene Induced Senescence Due to p14ARF Defects
R-HSA-9646304, Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8N726

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8N726

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tumor suppressor ARFCurated
Alternative name(s):
Alternative reading frame1 Publication
Short name:
ARF1 Publication
Cyclin-dependent kinase inhibitor 2AImported
p14ARF1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CDKN2AImported
Synonyms:CDKN2Imported, MLM
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1787, CDKN2A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600160, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N726

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000147889

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		1029

MalaCards human disease database

More...MalaCardsi		CDKN2A

Open Targets

More...OpenTargetsi		ENSG00000147889

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA106

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N726, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CDKN2A

Domain mapping of disease mutations (DMDM)

More...DMDMi		384872321

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001441801 – 132Tumor suppressor ARFAdd BLAST132

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated in normal cells by TRIP12 via the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination at the N-terminus, regardless of the absence of lysine residues. Ubiquitination leads to its proteasomal degradation. In cancer cells, however, TRIP12 is located in a different cell compartment, preventing ubiquitination and degradation.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8N726

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8N726

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8N726

PeptideAtlas

More...PeptideAtlasi		Q8N726

PRoteomics IDEntifications database

More...PRIDEi		Q8N726

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72258 [Q8N726-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N726

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147889, Expressed in adenohypophysis and 209 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N726, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N726, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147889, Tissue enhanced (choroid plexus, pituitary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Does not interact with cyclins, CDK1, CDK2, CDK4, CDK5 or CDK6. Binds to BCL6, E2F1, HUWE1, MDM2, MYC, NPM1/B23, TOP1/TOPOI and UBE2I/UBC9.

Interacts with TBRG1 and COMMD1.

Interacts with CDKN2AIP and E4F1.

Interacts with CDK5RAP3 and MDM2; form a ternary complex involved in regulation of p53/TP53 (PubMed:16173922). Isoform smARF interacts with C1QBP.

Interacts with NOP53; the interaction is direct and promotes ARF nucleoplasmic relocalization and ubiquitin-mediated proteasomal degradation (PubMed:27323397).

16 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107463, 281 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8N726

Database of interacting proteins

More...DIPi		DIP-24171N

Protein interaction database and analysis system

More...IntActi		Q8N726, 67 interactors

Molecular INTeraction database

More...MINTi		Q8N726

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q8N726

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 64Interaction with CDK5RAP3 and MDM21 PublicationAdd BLAST64
Regioni56 – 132DisorderedSequence analysisAdd BLAST77

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000163078

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_134503_0_0_1

Database of Orthologous Groups

More...OrthoDBi		1435166at2759

Family and domain databases

Database of protein disorder

More...DisProti		DP02167 [Q8N726-1]

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010868, Tumor_suppres_ARF

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07392, P19Arf_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Isoform 1 and isoform tumor suppressor ARF arise due to the use of two alternative first exons joined to a common exon 2 at the same acceptor site but in different reading frames, resulting in two completely different isoforms.By similarity

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform tumor suppressor ARF1 Publication (identifier: Q8N726-1) [UniParc]FASTAAdd to basket
Also known as: p14ARF1 Publication, p19ARF

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL 
        60         70         80         90        100
RSQRLGQQPL PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC 
       110        120        130 
PGGLPGHAGG AAPGRGAAGR ARCLGPSARG PG
Length:132
Mass (Da):13,903
Last modified:April 18, 2012 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7739A9050C21BC96
GO
Isoform 1Curated (identifier: P42771-1) [UniParc]FASTAAdd to basket
Also known as: p16INK4aCurated
The sequence of this isoform can be found in the external entry P42771.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:156
Mass (Da):16,533
GO
Isoform 2Curated (identifier: P42771-2) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P42771.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:105
Mass (Da):11,215
GO
Isoform 3Curated (identifier: P42771-3) [UniParc]FASTAAdd to basket
Also known as: p12Curated
The sequence of this isoform can be found in the external entry P42771.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:116
Mass (Da):12,083
GO
Isoform 5 (identifier: P42771-4) [UniParc]FASTAAdd to basket
Also known as: p16gamma
The sequence of this isoform can be found in the external entry P42771.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:167
Mass (Da):17,883
GO
Isoform smARF (identifier: Q8N726-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: Missing.

Show »
Length:85
Mass (Da):8,731
Checksum:i4C9E739D74BEC556
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENC6K7ENC6_HUMAN
Cyclin-dependent kinase inhibitor 2...
CDKN2A
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ES20K7ES20_HUMAN
Cyclin-dependent kinase inhibitor 2...
CDKN2A
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRG6J3QRG6_HUMAN
Cyclin-dependent kinase inhibitor 2...
CDKN2A
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB01737 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAC60649 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH15960 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH21998 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAM77919 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAH70601 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence EAW58600 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence EAW58601 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti28 – 30PRL → SWF in AAH15960 (PubMed:15489334).Curated3
Sequence conflicti28 – 30PRL → SWF in AAH21998 (PubMed:15489334).Curated3
Sequence conflicti28 – 30PRL → SWF in AAP35666 (PubMed:7624129).Curated3
Sequence conflicti94P → L in AAB01737 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02928717P → S1 PublicationCorresponds to variant dbSNP:rs3731190EnsemblClinVar.1
Natural variantiVAR_053033106G → R. Corresponds to variant dbSNP:rs4987127Ensembl.1
Natural variantiVAR_053034113P → L. Corresponds to variant dbSNP:rs34886500EnsemblClinVar.1
Natural variantiVAR_053035116G → D. Corresponds to variant dbSNP:rs35741010EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0449621 – 47Missing in isoform smARF. CuratedAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
S78535 mRNA Translation: AAC60649.1 Different initiation.
U38945 mRNA Translation: AAB01737.1 Different initiation.
AF527803 Genomic DNA Translation: AAM77919.1 Different initiation.
AL449423 Genomic DNA Translation: CAH70601.1 Different initiation.
CH471071 Genomic DNA Translation: EAW58600.1 Different initiation.
CH471071 Genomic DNA Translation: EAW58601.1 Different initiation.
BC015960 mRNA Translation: AAH15960.3 Different initiation.
BC021998 mRNA Translation: AAH21998.3 Different initiation.
U26727 mRNA Translation: AAA82236.1
BT007020 mRNA Translation: AAP35666.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6511.2 [Q8N726-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I39004

NCBI Reference Sequences

More...RefSeqi		NP_478102.2, NM_058195.3 [Q8N726-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000530628.2; ENSP00000432664.2; ENSG00000147889.18
ENST00000579755.2; ENSP00000462950.1; ENSG00000147889.18

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1029

UCSC genome browser

More...UCSCi		uc003zpl.4, human [Q8N726-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S78535 mRNA Translation: AAC60649.1 Different initiation.
U38945 mRNA Translation: AAB01737.1 Different initiation.
AF527803 Genomic DNA Translation: AAM77919.1 Different initiation.
AL449423 Genomic DNA Translation: CAH70601.1 Different initiation.
CH471071 Genomic DNA Translation: EAW58600.1 Different initiation.
CH471071 Genomic DNA Translation: EAW58601.1 Different initiation.
BC015960 mRNA Translation: AAH15960.3 Different initiation.
BC021998 mRNA Translation: AAH21998.3 Different initiation.
U26727 mRNA Translation: AAA82236.1
BT007020 mRNA Translation: AAP35666.1
CCDSiCCDS6511.2 [Q8N726-1]
PIRiI39004
RefSeqiNP_478102.2, NM_058195.3 [Q8N726-1]

3D structure databases

AlphaFoldDBiQ8N726
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi107463, 281 interactors
CORUMiQ8N726
DIPiDIP-24171N
IntActiQ8N726, 67 interactors
MINTiQ8N726

PTM databases

iPTMnetiQ8N726

Genetic variation databases

BioMutaiCDKN2A
DMDMi384872321

Proteomic databases

jPOSTiQ8N726
MassIVEiQ8N726
MaxQBiQ8N726
PeptideAtlasiQ8N726
PRIDEiQ8N726
ProteomicsDBi72258 [Q8N726-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3608, 1485 antibodies from 55 providers

The DNASU plasmid repository

More...DNASUi		1029

Genome annotation databases

EnsembliENST00000530628.2; ENSP00000432664.2; ENSG00000147889.18
ENST00000579755.2; ENSP00000462950.1; ENSG00000147889.18
GeneIDi1029
UCSCiuc003zpl.4, human [Q8N726-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1029
DisGeNETi1029

GeneCards: human genes, protein and diseases

More...GeneCardsi		CDKN2A
HGNCiHGNC:1787, CDKN2A
HPAiENSG00000147889, Tissue enhanced (choroid plexus, pituitary gland)
MalaCardsiCDKN2A
MIMi600160, gene
neXtProtiNX_Q8N726
OpenTargetsiENSG00000147889
PharmGKBiPA106
VEuPathDBiHostDB:ENSG00000147889

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00940000163078
HOGENOMiCLU_134503_0_0_1
OrthoDBi1435166at2759

Enzyme and pathway databases

PathwayCommonsiQ8N726
ReactomeiR-HSA-111471, Apoptotic factor-mediated response
R-HSA-2559580, Oxidative Stress Induced Senescence
R-HSA-2559585, Oncogene Induced Senescence
R-HSA-3108214, SUMOylation of DNA damage response and repair proteins
R-HSA-3232118, SUMOylation of transcription factors
R-HSA-6804757, Regulation of TP53 Degradation
R-HSA-69541, Stabilization of p53
R-HSA-8941858, Regulation of RUNX3 expression and activity
R-HSA-9645722, Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
R-HSA-9646303, Evasion of Oncogene Induced Senescence Due to p14ARF Defects
R-HSA-9646304, Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects
SignaLinkiQ8N726
SIGNORiQ8N726

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1029, 20 hits in 1089 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CDKN2A, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1029
PharosiQ8N726, Tbio

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147889, Expressed in adenohypophysis and 209 other tissues
ExpressionAtlasiQ8N726, baseline and differential
GenevisibleiQ8N726, HS

Family and domain databases

DisProtiDP02167 [Q8N726-1]
InterProiView protein in InterPro
IPR010868, Tumor_suppres_ARF
PfamiView protein in Pfam
PF07392, P19Arf_N, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiARF_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N726
Secondary accession number(s): D3DRK2
, Q13195, Q13399, Q16360, Q7KZR9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: April 18, 2012
Last modified: May 25, 2022
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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