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UniProtKB - P42771 (CDN2A_HUMAN)

Entry version 225 (07 Oct 2020)
Sequence version 2 (15 Jul 1998)
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Protein

Cyclin-dependent kinase inhibitor 2A

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

Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.2 Publications

Caution

The proteins described here are encoded by the gene CDKN2A, but are completely unrelated in terms of sequence and function to tumor suppressor ARF (AC Q8N726) 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

Biological processCell cycle

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P42771

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2559580, Oxidative Stress Induced Senescence
R-HSA-2559582, Senescence-Associated Secretory Phenotype (SASP)
R-HSA-2559585, Oncogene Induced Senescence
R-HSA-69231, Cyclin D associated events in G1
R-HSA-8853884, Transcriptional Regulation by VENTX
R-HSA-9630791, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
R-HSA-9630794, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
R-HSA-9632697, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
R-HSA-9632700, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6

SIGNOR Signaling Network Open Resource

More...SIGNORi		P42771

<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:
Cyclin-dependent kinase inhibitor 2AImported
Alternative name(s):
Cyclin-dependent kinase 4 inhibitor A
Short name:
CDK4I
Multiple tumor suppressor 1
Short name:
MTS-1
p16-INK4a
Short name:
p16-INK4
Short name:
p16INK4A
<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:CDKN2, MTS1
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000147889.16

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_P42771

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.
Melanoma, cutaneous malignant 2 (CMM2)12 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
Related information in OMIM
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_05854919A → ATA in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_00141324R → C in CMM2. 1
Natural variantiVAR_00141424R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_00141632L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar.1
Natural variantiVAR_00141835G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_00141935G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_05855135G → V in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_00142048P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication1
Natural variantiVAR_00142350Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar.1
Natural variantiVAR_00142453M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar.1
Natural variantiVAR_00142759V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar.1
Natural variantiVAR_00143062L → P in CMM2. 1
Natural variantiVAR_05855367G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar.1
Natural variantiVAR_00143268A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534Ensembl.1
Natural variantiVAR_00143771N → K in CMM2. 1
Natural variantiVAR_05855574D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852EnsemblClinVar.1
Natural variantiVAR_05855677T → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_05855780R → P in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1057519883Ensembl.1
Natural variantiVAR_05855881P → T in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1334828764EnsemblClinVar.1
Natural variantiVAR_00144984D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar.1
Natural variantiVAR_00145187R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar.1
Natural variantiVAR_01231787R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar.1
Natural variantiVAR_00145389G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar.1
Natural variantiVAR_00145489G → S in CMM2. Corresponds to variant dbSNP:rs137854597Ensembl.1
Natural variantiVAR_02360494L → Q in CMM2. 1 Publication1
Natural variantiVAR_00145797L → R in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00145898H → P in CMM2. 1
Natural variantiVAR_00145998H → Q in CMM2. 1
Natural variantiVAR_00146099R → P in CMM2; loss of CDK4 binding. Corresponds to variant dbSNP:rs754806883EnsemblClinVar.1
Natural variantiVAR_001462100A → L in CMM2; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001464101G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar.1
Natural variantiVAR_001466107R → C in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554654024EnsemblClinVar.1
Natural variantiVAR_035068112R → RR in CMM2. 1 Publication1
Natural variantiVAR_001471117L → M in CMM2; somatic mutation. 1 Publication1
Natural variantiVAR_001472118A → T in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554653960EnsemblClinVar.1
Natural variantiVAR_035069122G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404Ensembl.1
Natural variantiVAR_001479126V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar.1
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001464101G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar.1
Melanoma-astrocytoma syndrome (MASTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Li-Fraumeni syndrome, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		1029

MalaCards human disease database

More...MalaCardsi		CDKN2A
MIMi155601, phenotype
155755, phenotype
606719, phenotype

Open Targets

More...OpenTargetsi		ENSG00000147889

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		404560, Familial atypical multiple mole melanoma syndrome
618, Familial melanoma
1333, Familial pancreatic carcinoma
524, Li-Fraumeni syndrome
252206, Melanoma and neural system tumor syndrome
99860, Precursor B-cell acute lymphoblastic leukemia
99861, Precursor T-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA106

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P42771, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CDKN2A

Domain mapping of disease mutations (DMDM)

More...DMDMi		3041660

<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_00001441771 – 156Cyclin-dependent kinase inhibitor 2AAdd BLAST156

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei7Phosphoserine1 Publication1
Modified residuei8Phosphoserine1 Publication1
Modified residuei140Phosphoserine1 Publication1
Modified residuei152Phosphoserine1 Publication1

<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

Phosphorylation seems to increase interaction with CDK4.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-333
CPTAC-334

Encyclopedia of Proteome Dynamics

More...EPDi		P42771

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P42771

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P42771

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P42771

PeptideAtlas

More...PeptideAtlasi		P42771

PRoteomics IDEntifications database

More...PRIDEi		P42771

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33740
55551 [P42771-1]
55552 [P42771-2]
55553 [P42771-3]
55554 [P42771-4]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P42771-1 [P42771-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P42771

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P42771

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147889, Expressed in adenohypophysis and 208 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P42771, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P42771, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147889, Tissue enhanced (blood, 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

Heterodimer with CDK4 or CDK6. Predominant p16 complexes contained CDK6.

Interacts with CDK4 (both 'T-172'-phosphorylated and non-phosphorylated forms); the interaction inhibits cyclin D-CDK4 kinase activity.

Interacts with ISCO2.

2 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, 236 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P42771

Database of interacting proteins

More...DIPi		DIP-6108N

Protein interaction database and analysis system

More...IntActi		P42771, 63 interactors

Molecular INTeraction database

More...MINTi		P42771

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000418915

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P42771, protein

<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

Secondary structure

1156
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P42771

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P42771

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P42771

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati11 – 40ANK 1Add BLAST30
Repeati44 – 72ANK 2Add BLAST29
Repeati77 – 106ANK 3Add BLAST30
Repeati110 – 139ANK 4Add BLAST30

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.Curated

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0504, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000163078

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_2229116_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P42771

KEGG Orthology (KO)

More...KOi		K06621

Identification of Orthologs from Complete Genome Data

More...OMAi		RDEDKGM

Database of Orthologous Groups

More...OrthoDBi		1435166at2759

TreeFam database of animal gene trees

More...TreeFami		TF352389

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48403, SSF48403, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50297, ANK_REP_REGION, 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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.

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

Isoform 1 (identifier: P42771-1) [UniParc]FASTAAdd to basket
Also known as: p16INK4a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ 
        60         70         80         90        100
VMMMGSARVA ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA 
       110        120        130        140        150
GARLDVRDAW GRLPVDLAEE LGHRDVARYL RAAAGGTRGS NHARIDAAEG 

PSDIPD
Length:156
Mass (Da):16,533
Last modified:July 15, 1998 - 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:iE59C0E6174B48255
GO
Isoform 2 (identifier: P42771-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Show »
Length:105
Mass (Da):11,215
Checksum:i7F3FA00737E14285
GO
Isoform 3 (identifier: P42771-3) [UniParc]FASTAAdd to basket
Also known as: p12

The sequence of this isoform differs from the canonical sequence as follows:
     52-116: MMMGSARVAE...RDAWGRLPVD → GRGSAAGAGD...LGAWEAKEEE
     117-156: Missing.

Show »
Length:116
Mass (Da):12,083
Checksum:iF451D0FE12C3B2DD
GO
Isoform tumor suppressor ARF (identifier: Q8N726-1) [UniParc]FASTAAdd to basket
Also known as: p14ARF, p19ARF
The sequence of this isoform can be found in the external entry Q8N726.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:132
Mass (Da):13,903
GO
Isoform 5 (identifier: P42771-4) [UniParc]FASTAAdd to basket
Also known as: p16gamma

The sequence of this isoform differs from the canonical sequence as follows:
     153-156: DIPD → EMIGNHLWVCRSRHA

Note: Barely detectable in non-tumor cells.Curated
Show »
Length:167
Mass (Da):17,883
Checksum:i07328B24CC7ECC61
GO
Isoform smARF (identifier: Q8N726-2) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q8N726.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:85
Mass (Da):8,731
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 AAB60645 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 3 (identifier: P42771-3)
<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 conflicti54G → R in AAD11437 (PubMed:10445844).Curated1
Sequence conflicti112A → T in AAD11437 (PubMed:10445844).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00140814D → E in a biliary tract tumor. 1
Natural variantiVAR_00140916L → P in a biliary tract tumor and a familial melanoma. 1
Natural variantiVAR_05854919A → ATA in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_00141020A → P in a lung tumor and melanoma. Corresponds to variant dbSNP:rs760065045EnsemblClinVar.1
Natural variantiVAR_00141120A → S in a biliary tract tumor. Corresponds to variant dbSNP:rs760065045EnsemblClinVar.1
Natural variantiVAR_00141223G → D in a pancreas tumor and a melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs1064794292EnsemblClinVar.1
Natural variantiVAR_00141324R → C in CMM2. 1
Natural variantiVAR_00141424R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_05855024R → Q Found in a patient with multiple primary melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_00141526E → D in a biliary tract tumor. 1
Natural variantiVAR_00141632L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar.1
Natural variantiVAR_00141733E → D in a biliary tract tumor. 1
Natural variantiVAR_00141835G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_00141935G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_05855135G → V in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_00142048P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication1
Natural variantiVAR_00142149I → S in a biliary tract tumor. Corresponds to variant dbSNP:rs199907548EnsemblClinVar.1
Natural variantiVAR_00142249I → T2 PublicationsCorresponds to variant dbSNP:rs199907548EnsemblClinVar.1
Natural variantiVAR_00142350Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar.1
Natural variantiVAR_00142453M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar.1
Natural variantiVAR_00142556S → I Possible polymorphism. Corresponds to variant dbSNP:rs104894109EnsemblClinVar.1
Natural variantiVAR_00142657A → V in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372266620EnsemblClinVar.1
Natural variantiVAR_00142759V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar.1
Natural variantiVAR_00142860A → T. Corresponds to variant dbSNP:rs769382085EnsemblClinVar.1
Natural variantiVAR_05302860A → V in melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs36204594EnsemblClinVar.1
Natural variantiVAR_00142961 – 62EL → DV. 2
Natural variantiVAR_00143062L → P in CMM2. 1
Natural variantiVAR_00143166H → Y in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_05855267 – 71Missing in melanoma; loss of CDK4 binding. 1 Publication5
Natural variantiVAR_05855367G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar.1
Natural variantiVAR_00143268A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534Ensembl.1
Natural variantiVAR_00143368A → T in an esophagus tumor. 1
Natural variantiVAR_00143468A → V1 PublicationCorresponds to variant dbSNP:rs1060501260EnsemblClinVar.1
Natural variantiVAR_05855469E → G Found in some patients with melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372670098EnsemblClinVar.1
Natural variantiVAR_00143569E → K in a bladder tumor. 1
Natural variantiVAR_00143669E → V in a lung tumor. 1
Natural variantiVAR_00143771N → K in CMM2. 1
Natural variantiVAR_00143871N → S2 PublicationsCorresponds to variant dbSNP:rs559848002EnsemblClinVar.1
Natural variantiVAR_00143972C → G in an esophagus tumor. 1
Natural variantiVAR_00144074D → N in a bladder tumor. Corresponds to variant dbSNP:rs760640852EnsemblClinVar.1
Natural variantiVAR_00144174D → V in a biliary tract tumor. 1
Natural variantiVAR_05855574D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852EnsemblClinVar.1
Natural variantiVAR_05855677T → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00144280R → L in a head and neck tumor. 1
Natural variantiVAR_05855780R → P in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1057519883Ensembl.1
Natural variantiVAR_00144381P → L in some patients with melanoma; impairs the function. 1 PublicationCorresponds to variant dbSNP:rs11552823Ensembl.1
Natural variantiVAR_05855881P → T in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1334828764EnsemblClinVar.1
Natural variantiVAR_00144583H → N in a lung tumor. 1
Natural variantiVAR_05302983H → Q. Corresponds to variant dbSNP:rs34968276EnsemblClinVar.1
Natural variantiVAR_00144483H → Y in a pancreas tumor; also found in head and neck tumor. Corresponds to variant dbSNP:rs121913385EnsemblClinVar.1
Natural variantiVAR_00144684D → E in a bladder tumor. 1
Natural variantiVAR_00144784D → H in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_00144884D → N in an esophagus tumor; also found in head and neck tumor; also found in a lung tumor. Corresponds to variant dbSNP:rs11552822EnsemblClinVar.1
Natural variantiVAR_00144984D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar.1
Natural variantiVAR_00145085A → T1 PublicationCorresponds to variant dbSNP:rs878853646EnsemblClinVar.1
Natural variantiVAR_00145187R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar.1
Natural variantiVAR_01231787R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar.1
Natural variantiVAR_00145288E → D in a biliary tract tumor. 1
Natural variantiVAR_00145389G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar.1
Natural variantiVAR_00145489G → S in CMM2. Corresponds to variant dbSNP:rs137854597Ensembl.1
Natural variantiVAR_00145593T → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_02360494L → Q in CMM2. 1 Publication1
Natural variantiVAR_00145695V → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_00145797L → R in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00145898H → P in CMM2. 1
Natural variantiVAR_00145998H → Q in CMM2. 1
Natural variantiVAR_00146099R → P in CMM2; loss of CDK4 binding. Corresponds to variant dbSNP:rs754806883EnsemblClinVar.1
Natural variantiVAR_00146199R → Q in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs754806883EnsemblClinVar.1
Natural variantiVAR_05303099R → W. Corresponds to variant dbSNP:rs34886500EnsemblClinVar.1
Natural variantiVAR_001462100A → L in CMM2; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001463100A → P. 1
Natural variantiVAR_001464101G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar.1
Natural variantiVAR_015818102A → E Found in seminoma and medulloblastoma tissues from Li-Fraumeni syndrome patients carrying a mutation in TP53; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854598EnsemblClinVar.1
Natural variantiVAR_053031102A → T. Corresponds to variant dbSNP:rs35741010EnsemblClinVar.1
Natural variantiVAR_001465104 – 105Missing . 2
Natural variantiVAR_001466107R → C in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554654024EnsemblClinVar.1
Natural variantiVAR_001467107R → H. Corresponds to variant dbSNP:rs370823171EnsemblClinVar.1
Natural variantiVAR_001469108D → H in a bladder tumor. 1
Natural variantiVAR_001468108D → Y in a head and neck tumor. Corresponds to variant dbSNP:rs121913381EnsemblClinVar.1
Natural variantiVAR_035068112R → RR in CMM2. 1 Publication1
Natural variantiVAR_001470114P → L in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs121913386Ensembl.1
Natural variantiVAR_058559114P → S Found in some patients with melanoma; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894104Ensembl.1
Natural variantiVAR_001471117L → M in CMM2; somatic mutation. 1 Publication1
Natural variantiVAR_001472118A → T in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554653960EnsemblClinVar.1
Natural variantiVAR_001473119E → Q in a biliary tract tumor. 1
Natural variantiVAR_001474120E → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001475120E → K in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_035069122G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404Ensembl.1
Natural variantiVAR_001476122G → S in a biliary tract tumor. Corresponds to variant dbSNP:rs113798404Ensembl.1
Natural variantiVAR_001477123H → Q in leukemia. Corresponds to variant dbSNP:rs6413463EnsemblClinVar.1
Natural variantiVAR_053032124R → C. Corresponds to variant dbSNP:rs34170727EnsemblClinVar.1
Natural variantiVAR_001478124R → H in an esophagus tumor. Corresponds to variant dbSNP:rs747621669Ensembl.1
Natural variantiVAR_001479126V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar.1
Natural variantiVAR_001480127A → S in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs6413464EnsemblClinVar.1
Natural variantiVAR_001481132A → P in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001482134A → V in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs757497674EnsemblClinVar.1
Natural variantiVAR_001483142H → Y in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001484144R → C in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs116150891EnsemblClinVar.1
Natural variantiVAR_001486148A → T7 PublicationsCorresponds to variant dbSNP:rs3731249EnsemblClinVar.1
Natural variantiVAR_001487150G → V in non-small cell lung carcinoma. 1 Publication1

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_0158641 – 51Missing in isoform 2. CuratedAdd BLAST51
Alternative sequenceiVSP_01586552 – 116MMMGS…RLPVD → GRGSAAGAGDGGRLWRTKFA GELESGSASILRKKGRLPGE FSEGVCNHRPPPGDALGAWE AKEEE in isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_015866117 – 156Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_043577153 – 156DIPD → EMIGNHLWVCRSRHA in isoform 5. 1 Publication4

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
L27211 mRNA Translation: AAA92554.1
AF115544 mRNA Translation: AAD11437.1
AB060808 Genomic DNA Translation: BAB91133.1
AF527803 Genomic DNA Translation: AAR05391.1
DQ318021 mRNA Translation: ABC47036.1
AL449423 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58598.1
CH471071 Genomic DNA Translation: EAW58599.1
CH471071 Genomic DNA Translation: EAW58603.1
X94154 Genomic DNA Translation: CAA63870.1
AH007355 Genomic DNA Translation: AAD14050.1
S69804 Genomic DNA Translation: AAD14048.1
U12820, U12818, U12819 Genomic DNA Translation: AAB60645.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS56565.1 [P42771-4]
CCDS6510.1 [P42771-1]
CCDS87644.1 [P42771-2]

Protein sequence database of the Protein Information Resource

More...PIRi		JE0141

NCBI Reference Sequences

More...RefSeqi		NP_000068.1, NM_000077.4 [P42771-1]
NP_001182061.1, NM_001195132.1 [P42771-4]
NP_478104.2, NM_058197.4 [P42771-3]
XP_005251400.1, XM_005251343.1 [P42771-2]
XP_011515981.1, XM_011517679.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000304494; ENSP00000307101; ENSG00000147889 [P42771-1]
ENST00000380151; ENSP00000369496; ENSG00000147889 [P42771-3]
ENST00000494262; ENSP00000464952; ENSG00000147889 [P42771-2]
ENST00000498124; ENSP00000418915; ENSG00000147889 [P42771-4]
ENST00000498628; ENSP00000467857; ENSG00000147889 [P42771-2]
ENST00000578845; ENSP00000467390; ENSG00000147889 [P42771-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1029

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1029

UCSC genome browser

More...UCSCi		uc003zpj.4, human
uc003zpk.4, human [P42771-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

CDKN2A Database

Database of CDKN2A germline and somatic variants

NIEHS-SNPs
Wikipedia

P16INK4a entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L27211 mRNA Translation: AAA92554.1
AF115544 mRNA Translation: AAD11437.1
AB060808 Genomic DNA Translation: BAB91133.1
AF527803 Genomic DNA Translation: AAR05391.1
DQ318021 mRNA Translation: ABC47036.1
AL449423 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58598.1
CH471071 Genomic DNA Translation: EAW58599.1
CH471071 Genomic DNA Translation: EAW58603.1
X94154 Genomic DNA Translation: CAA63870.1
AH007355 Genomic DNA Translation: AAD14050.1
S69804 Genomic DNA Translation: AAD14048.1
U12820, U12818, U12819 Genomic DNA Translation: AAB60645.1 Different initiation.
CCDSiCCDS56565.1 [P42771-4]
CCDS6510.1 [P42771-1]
CCDS87644.1 [P42771-2]
PIRiJE0141
RefSeqiNP_000068.1, NM_000077.4 [P42771-1]
NP_001182061.1, NM_001195132.1 [P42771-4]
NP_478104.2, NM_058197.4 [P42771-3]
XP_005251400.1, XM_005251343.1 [P42771-2]
XP_011515981.1, XM_011517679.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A5ENMR-A1-156[»]
1BI7X-ray3.40B1-156[»]
1DC2NMR-A1-156[»]
2A5ENMR-A1-156[»]
BMRBiP42771
SMRiP42771
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107463, 236 interactors
CORUMiP42771
DIPiDIP-6108N
IntActiP42771, 63 interactors
MINTiP42771
STRINGi9606.ENSP00000418915

PTM databases

iPTMnetiP42771
PhosphoSitePlusiP42771

Polymorphism and mutation databases

BioMutaiCDKN2A
DMDMi3041660

Proteomic databases

CPTACiCPTAC-333
CPTAC-334
EPDiP42771
jPOSTiP42771
MassIVEiP42771
PaxDbiP42771
PeptideAtlasiP42771
PRIDEiP42771
ProteomicsDBi33740
55551 [P42771-1]
55552 [P42771-2]
55553 [P42771-3]
55554 [P42771-4]
TopDownProteomicsiP42771-1 [P42771-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P42771, 8 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3608, 1402 antibodies

The DNASU plasmid repository

More...DNASUi		1029

Genome annotation databases

EnsembliENST00000304494; ENSP00000307101; ENSG00000147889 [P42771-1]
ENST00000380151; ENSP00000369496; ENSG00000147889 [P42771-3]
ENST00000494262; ENSP00000464952; ENSG00000147889 [P42771-2]
ENST00000498124; ENSP00000418915; ENSG00000147889 [P42771-4]
ENST00000498628; ENSP00000467857; ENSG00000147889 [P42771-2]
ENST00000578845; ENSP00000467390; ENSG00000147889 [P42771-2]
GeneIDi1029
KEGGihsa:1029
UCSCiuc003zpj.4, human
uc003zpk.4, human [P42771-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1029
DisGeNETi1029
EuPathDBiHostDB:ENSG00000147889.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		CDKN2A
HGNCiHGNC:1787, CDKN2A
HPAiENSG00000147889, Tissue enhanced (blood, pituitary gland)
MalaCardsiCDKN2A
MIMi155601, phenotype
155755, phenotype
600160, gene
606719, phenotype
neXtProtiNX_P42771
OpenTargetsiENSG00000147889
Orphaneti404560, Familial atypical multiple mole melanoma syndrome
618, Familial melanoma
1333, Familial pancreatic carcinoma
524, Li-Fraumeni syndrome
252206, Melanoma and neural system tumor syndrome
99860, Precursor B-cell acute lymphoblastic leukemia
99861, Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA106

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0504, Eukaryota
GeneTreeiENSGT00940000163078
HOGENOMiCLU_2229116_0_0_1
InParanoidiP42771
KOiK06621
OMAiRDEDKGM
OrthoDBi1435166at2759
TreeFamiTF352389

Enzyme and pathway databases

PathwayCommonsiP42771
ReactomeiR-HSA-2559580, Oxidative Stress Induced Senescence
R-HSA-2559582, Senescence-Associated Secretory Phenotype (SASP)
R-HSA-2559585, Oncogene Induced Senescence
R-HSA-69231, Cyclin D associated events in G1
R-HSA-8853884, Transcriptional Regulation by VENTX
R-HSA-9630791, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
R-HSA-9630794, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
R-HSA-9632697, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
R-HSA-9632700, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
SIGNORiP42771

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1029, 10 hits in 883 CRISPR screens

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

More...ChiTaRSi		CDKN2A, human
EvolutionaryTraceiP42771

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		P16_(gene)

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

More...GenomeRNAii		1029
PharosiP42771, Tbio
RNActiP42771, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147889, Expressed in adenohypophysis and 208 other tissues
ExpressionAtlasiP42771, baseline and differential
GenevisibleiP42771, HS

Family and domain databases

Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
SUPFAMiSSF48403, SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiCDN2A_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: P42771
Secondary accession number(s): A5X2G7
, D3DRK1, G3XAG3, O95440, Q15191, Q5VVJ5, Q96B52, Q9NP05
<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: November 1, 1995
Last sequence update: July 15, 1998
Last modified: October 7, 2020
This is version 225 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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