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Entry version 174 (16 Oct 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Cyclin-dependent kinase inhibitor 1C

Gene

CDKN1C

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

Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.

Miscellaneous

Paternally imprinted, therefore most expression comes from the maternal allele.1 Publication

<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

GO - Biological processi

<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 functionProtein kinase inhibitor
Biological processCell cycle

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-69231 Cyclin D associated events in G1

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

More...
SignaLinki
P49918

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P49918

<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_and_taxonomy_section">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 1C
Alternative name(s):
Cyclin-dependent kinase inhibitor p57
p57Kip2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CDKN1C
Synonyms:KIP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1786 CDKN1C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600856 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49918

<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

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

Beckwith-Wiedemann syndrome (BWS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
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_07520012M → L in BWS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs483352966Ensembl.1
Natural variantiVAR_07520153L → P in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352968Ensembl.1
Natural variantiVAR_07520264Missing in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352969Ensembl.1
Natural variantiVAR_07520370P → L in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352970Ensembl.1
Natural variantiVAR_075204158P → A in BWS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs483352981Ensembl.1
Natural variantiVAR_075205215A → APA in BWS. 1 PublicationCorresponds to variant dbSNP:rs772704243Ensembl.1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068848274D → N in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs387907225EnsemblClinVar.1
Natural variantiVAR_068849276F → S in IMAGE; PCNA binding is disrupted. 1 PublicationCorresponds to variant dbSNP:rs387907224EnsemblClinVar.1
Natural variantiVAR_068850276F → V in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs387907223EnsemblClinVar.1
Natural variantiVAR_068851278K → E in IMAGE; PCNA binding is disrupted. 1 PublicationCorresponds to variant dbSNP:rs387907226EnsemblClinVar.1
Natural variantiVAR_068852279R → P in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs318240750EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
1028

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CDKN1C

MalaCards human disease database

More...
MalaCardsi
CDKN1C
MIMi130650 phenotype
614732 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000129757

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

More...
Orphaneti
231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation
85173 IMAGe syndrome
436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
397590 Silver-Russell syndrome due to a point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26320

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P49918

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDKN1C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1705731

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001900871 – 316Cyclin-dependent kinase inhibitor 1CAdd BLAST316

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 residuei107Omega-N-methylarginineBy similarity1
Modified residuei268PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P49918

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49918

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P49918

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49918

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

More...
PaxDbi
P49918

PeptideAtlas

More...
PeptideAtlasi
P49918

PRoteomics IDEntifications database

More...
PRIDEi
P49918

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
56184 [P49918-1]
56185 [P49918-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P49918

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

More...
PhosphoSitePlusi
P49918

<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

Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed within a subset of cells in the subcapsular or developing definitive zone of the adrenal gland.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000129757 Expressed in 236 organ(s), highest expression level in metanephric glomerulus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49918 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49918 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002924

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PCNA.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107462, 32 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
P49918

Protein interaction database and analysis system

More...
IntActi
P49918, 14 interactors

Molecular INTeraction database

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MINTi
P49918

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000413720

<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

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

More...
SMRi
P49918

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Repeati156 – 15914
Repeati160 – 16324
Repeati180 – 18334
Repeati184 – 18744
Repeati188 – 19154
Repeati198 – 20164
Repeati202 – 20574
Repeati206 – 20984
Repeati210 – 21394

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>Regioni156 – 2139 X 4 AA repeats of P-A-P-AAdd BLAST58

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi278 – 281Nuclear localization signalSequence analysis4

<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 CDI family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4743 Eukaryota
ENOG410XXN5 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162677

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294081

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49918

KEGG Orthology (KO)

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KOi
K09993

Identification of Orthologs from Complete Genome Data

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OMAi
EQGANQA

Database of Orthologous Groups

More...
OrthoDBi
1595421at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49918

TreeFam database of animal gene trees

More...
TreeFami
TF101111

Family and domain databases

Database of protein disorder

More...
DisProti
DP00017

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003175 CDI
IPR029842 CDKN1C

The PANTHER Classification System

More...
PANTHERi
PTHR10265:SF44 PTHR10265:SF44, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02234 CDI, 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_length">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: P49918-1) [UniParc]FASTAAdd to basket

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
MSDASLRSTS TMERLVARGT FPVLVRTSAC RSLFGPVDHE ELSRELQARL
60 70 80 90 100
AELNAEDQNR WDYDFQQDMP LRGPGRLQWT EVDSDSVPAF YRETVQVGRC
110 120 130 140 150
RLLLAPRPVA VAVAVSPPLE PAAESLDGLE EAPEQLPSVP VPAPASTPPP
160 170 180 190 200
VPVLAPAPAP APAPVAAPVA APVAVAVLAP APAPAPAPAP APAPVAAPAP
210 220 230 240 250
APAPAPAPAP APAPAPDAAP QESAEQGANQ GQRGQEPLAD QLHSGISGRP
260 270 280 290 300
AAGTAAASAN GAAIKKLSGP LISDFFAKRK RSAPEKSSGD VPAPCPSPSA
310
APGVGSVEQT PRKRLR
Length:316
Mass (Da):32,177
Last modified:October 1, 1996 - v1
<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:iA94CCBF09F8CB3E4
GO
Isoform Short (identifier: P49918-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:305
Mass (Da):31,040
Checksum:iC4C82AF45384A1CC
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JH30A0A0G2JH30_HUMAN
Cyclin-dependent kinase inhibitor 1...
CDKN1C
305Annotation score:

Annotation score:2 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>
A0A0G2JPX0A0A0G2JPX0_HUMAN
Cyclin-dependent kinase inhibitor 1...
CDKN1C
316Annotation 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>
A0A2R8YFP9A0A2R8YFP9_HUMAN
Cyclin-dependent kinase inhibitor 1...
CDKN1C
175Annotation 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>
A6NK88A6NK88_HUMAN
Cyclin-dependent kinase inhibitor 1...
CDKN1C
131Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07520012M → L in BWS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs483352966Ensembl.1
Natural variantiVAR_07520153L → P in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352968Ensembl.1
Natural variantiVAR_07520264Missing in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352969Ensembl.1
Natural variantiVAR_07520370P → L in BWS. 1 PublicationCorresponds to variant dbSNP:rs483352970Ensembl.1
Natural variantiVAR_075204158P → A in BWS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs483352981Ensembl.1
Natural variantiVAR_001404171 – 174Missing in several cancers. 4
Natural variantiVAR_001405181 – 184Missing in hepatocellular carcinomas. 4
Natural variantiVAR_001406200 – 203Missing in a bladder cancer. 4
Natural variantiVAR_001407206 – 209Missing in a breast cancer. 4
Natural variantiVAR_075205215A → APA in BWS. 1 PublicationCorresponds to variant dbSNP:rs772704243Ensembl.1
Natural variantiVAR_068848274D → N in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs387907225EnsemblClinVar.1
Natural variantiVAR_068849276F → S in IMAGE; PCNA binding is disrupted. 1 PublicationCorresponds to variant dbSNP:rs387907224EnsemblClinVar.1
Natural variantiVAR_068850276F → V in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs387907223EnsemblClinVar.1
Natural variantiVAR_068851278K → E in IMAGE; PCNA binding is disrupted. 1 PublicationCorresponds to variant dbSNP:rs387907226EnsemblClinVar.1
Natural variantiVAR_068852279R → P in IMAGE. 1 PublicationCorresponds to variant dbSNP:rs318240750EnsemblClinVar.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_0008671 – 11Missing in isoform Short. CuratedAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U22398 mRNA Translation: AAA85095.1
U48869 Genomic DNA Translation: AAB05896.1
BC067842 mRNA Translation: AAH67842.1
D64137 Genomic DNA Translation: BAA11014.1
D64137 Genomic DNA Translation: BAA11015.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS44519.1 [P49918-2]
CCDS7738.1 [P49918-1]

Protein sequence database of the Protein Information Resource

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PIRi
G02424

NCBI Reference Sequences

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RefSeqi
NP_000067.1, NM_000076.2 [P49918-1]
NP_001116102.1, NM_001122630.1 [P49918-2]
NP_001116103.1, NM_001122631.1 [P49918-2]
XP_016872577.1, XM_017017088.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000414822; ENSP00000413720; ENSG00000129757 [P49918-1]
ENST00000430149; ENSP00000411552; ENSG00000129757 [P49918-1]
ENST00000440480; ENSP00000411257; ENSG00000129757 [P49918-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1028

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1028

UCSC genome browser

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UCSCi
uc001lwr.5 human [P49918-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U22398 mRNA Translation: AAA85095.1
U48869 Genomic DNA Translation: AAB05896.1
BC067842 mRNA Translation: AAH67842.1
D64137 Genomic DNA Translation: BAA11014.1
D64137 Genomic DNA Translation: BAA11015.1
CCDSiCCDS44519.1 [P49918-2]
CCDS7738.1 [P49918-1]
PIRiG02424
RefSeqiNP_000067.1, NM_000076.2 [P49918-1]
NP_001116102.1, NM_001122630.1 [P49918-2]
NP_001116103.1, NM_001122631.1 [P49918-2]
XP_016872577.1, XM_017017088.1

3D structure databases

SMRiP49918
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107462, 32 interactors
ELMiP49918
IntActiP49918, 14 interactors
MINTiP49918
STRINGi9606.ENSP00000413720

PTM databases

iPTMnetiP49918
PhosphoSitePlusiP49918

Polymorphism and mutation databases

BioMutaiCDKN1C
DMDMi1705731

Proteomic databases

EPDiP49918
jPOSTiP49918
MassIVEiP49918
MaxQBiP49918
PaxDbiP49918
PeptideAtlasiP49918
PRIDEiP49918
ProteomicsDBi56184 [P49918-1]
56185 [P49918-2]

Genome annotation databases

EnsembliENST00000414822; ENSP00000413720; ENSG00000129757 [P49918-1]
ENST00000430149; ENSP00000411552; ENSG00000129757 [P49918-1]
ENST00000440480; ENSP00000411257; ENSG00000129757 [P49918-2]
GeneIDi1028
KEGGihsa:1028
UCSCiuc001lwr.5 human [P49918-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1028
DisGeNETi1028

GeneCards: human genes, protein and diseases

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GeneCardsi
CDKN1C
GeneReviewsiCDKN1C
HGNCiHGNC:1786 CDKN1C
HPAiHPA002924
MalaCardsiCDKN1C
MIMi130650 phenotype
600856 gene
614732 phenotype
neXtProtiNX_P49918
OpenTargetsiENSG00000129757
Orphaneti231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation
85173 IMAGe syndrome
436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
397590 Silver-Russell syndrome due to a point mutation
PharmGKBiPA26320

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4743 Eukaryota
ENOG410XXN5 LUCA
GeneTreeiENSGT00940000162677
HOGENOMiHOG000294081
InParanoidiP49918
KOiK09993
OMAiEQGANQA
OrthoDBi1595421at2759
PhylomeDBiP49918
TreeFamiTF101111

Enzyme and pathway databases

ReactomeiR-HSA-69231 Cyclin D associated events in G1
SignaLinkiP49918
SIGNORiP49918

Miscellaneous databases

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

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ChiTaRSi
CDKN1C human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Cyclin-dependent_kinase_inhibitor_1C

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

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GenomeRNAii
1028
PharosiP49918

Protein Ontology

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PROi
PR:P49918

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000129757 Expressed in 236 organ(s), highest expression level in metanephric glomerulus
ExpressionAtlasiP49918 baseline and differential
GenevisibleiP49918 HS

Family and domain databases

DisProtiDP00017
InterProiView protein in InterPro
IPR003175 CDI
IPR029842 CDKN1C
PANTHERiPTHR10265:SF44 PTHR10265:SF44, 1 hit
PfamiView protein in Pfam
PF02234 CDI, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiCDN1C_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: P49918
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 16, 2019
This is version 174 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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