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P49918

- CDN1C_HUMAN

UniProt

P49918 - CDN1C_HUMAN

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Protein

Cyclin-dependent kinase inhibitor 1C

Gene

CDKN1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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.

GO - Molecular functioni

  1. cyclin-dependent protein serine/threonine kinase inhibitor activity Source: InterPro

GO - Biological processi

  1. adrenal gland development Source: Ensembl
  2. aging Source: Ensembl
  3. camera-type eye development Source: Ensembl
  4. cell cycle arrest Source: InterPro
  5. digestive system development Source: Ensembl
  6. embryonic placenta morphogenesis Source: Ensembl
  7. genetic imprinting Source: Ensembl
  8. kidney development Source: Ensembl
  9. multicellular organism growth Source: Ensembl
  10. myeloid cell differentiation Source: Ensembl
  11. negative regulation of epithelial cell proliferation Source: BHF-UCL
  12. negative regulation of kinase activity Source: UniProtKB
  13. negative regulation of phosphorylation Source: UniProtKB
  14. negative regulation of transcription, DNA-templated Source: UniProtKB
  15. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  16. neuron maturation Source: Ensembl
  17. positive regulation of transcription, DNA-templated Source: UniProtKB
  18. positive regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  19. skeletal system development Source: Ensembl
  20. uterus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Protein kinase inhibitor

Keywords - Biological processi

Cell cycle

Enzyme and pathway databases

SignaLinkiP49918.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclin-dependent kinase inhibitor 1C
Alternative name(s):
Cyclin-dependent kinase inhibitor p57
p57Kip2
Gene namesi
Name:CDKN1C
Synonyms:KIP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:1786. CDKN1C.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741D → N in IMAGE. 1 Publication
VAR_068848
Natural varianti276 – 2761F → S in IMAGE; PCNA binding is disrupted. 1 Publication
VAR_068849
Natural varianti276 – 2761F → V in IMAGE. 1 Publication
VAR_068850
Natural varianti278 – 2781K → E in IMAGE; PCNA binding is disrupted. 1 Publication
VAR_068851
Natural varianti279 – 2791R → P in IMAGE. 1 Publication
VAR_068852
Defects in CDKN1C are involved in tumor formation.

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

MIMi130650. phenotype.
614732. phenotype.
Orphaneti231120. Beckwith-Wiedemann syndrome due to CDKN1C mutation.
85173. IMAGe syndrome.
397590. Silver-Russell syndrome due to a point mutation.
PharmGKBiPA26320.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 316316Cyclin-dependent kinase inhibitor 1CPRO_0000190087Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei268 – 2681Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP49918.
PaxDbiP49918.
PRIDEiP49918.

PTM databases

PhosphoSiteiP49918.

Expressioni

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

Developmental stagei

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

Gene expression databases

BgeeiP49918.
CleanExiHS_CDKN1C.
ExpressionAtlasiP49918. baseline and differential.
GenevestigatoriP49918.

Organism-specific databases

HPAiHPA002924.

Interactioni

Subunit structurei

Interacts with PCNA.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
FBXL12Q9NXK86EBI-519256,EBI-719790
MCM7P339932EBI-519256,EBI-355924

Protein-protein interaction databases

BioGridi107462. 20 interactions.
IntActiP49918. 7 interactions.
MINTiMINT-128985.
STRINGi9606.ENSP00000413720.

Structurei

3D structure databases

DisProtiDP00017.
ProteinModelPortaliP49918.
SMRiP49918. Positions 26-91.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati156 – 15941
Repeati160 – 16342
Repeati180 – 18343
Repeati184 – 18744
Repeati188 – 19145
Repeati198 – 20146
Repeati202 – 20547
Repeati206 – 20948
Repeati210 – 21349

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni156 – 213589 X 4 AA repeats of P-A-P-AAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi278 – 2814Nuclear localization signalSequence Analysis

Sequence similaritiesi

Belongs to the CDI family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG245842.
GeneTreeiENSGT00530000063588.
HOGENOMiHOG000294081.
HOVERGENiHBG107407.
InParanoidiP49918.
KOiK09993.
OMAiEQGANQG.
OrthoDBiEOG7GJ6HD.
PhylomeDBiP49918.
TreeFamiTF101111.

Family and domain databases

InterProiIPR003175. CDI.
[Graphical view]
PANTHERiPTHR10265. PTHR10265. 1 hit.
PfamiPF02234. CDI. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

This isoform has been chosen as the 'canonical' 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
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1744Missing in several cancers.
VAR_001404
Natural varianti181 – 1844Missing in hepatocellular carcinomas.
VAR_001405
Natural varianti200 – 2034Missing in a bladder cancer.
VAR_001406
Natural varianti206 – 2094Missing in a breast cancer.
VAR_001407
Natural varianti274 – 2741D → N in IMAGE. 1 Publication
VAR_068848
Natural varianti276 – 2761F → S in IMAGE; PCNA binding is disrupted. 1 Publication
VAR_068849
Natural varianti276 – 2761F → V in IMAGE. 1 Publication
VAR_068850
Natural varianti278 – 2781K → E in IMAGE; PCNA binding is disrupted. 1 Publication
VAR_068851
Natural varianti279 – 2791R → P in IMAGE. 1 Publication
VAR_068852

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111Missing in isoform Short. CuratedVSP_000867Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005252788.1. XM_005252731.1. [P49918-1]
UniGeneiHs.106070.

Genome annotation databases

EnsembliENST00000414822; ENSP00000413720; ENSG00000129757. [P49918-1]
ENST00000430149; ENSP00000411552; ENSG00000129757. [P49918-1]
ENST00000440480; ENSP00000411257; ENSG00000129757. [P49918-2]
GeneIDi1028.
KEGGihsa:1028.
UCSCiuc001lwr.4. human. [P49918-1]

Polymorphism databases

DMDMi1705731.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS44519.1. [P49918-2 ]
CCDS7738.1. [P49918-1 ]
PIRi G02424.
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_005252788.1. XM_005252731.1. [P49918-1 ]
UniGenei Hs.106070.

3D structure databases

DisProti DP00017.
ProteinModelPortali P49918.
SMRi P49918. Positions 26-91.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107462. 20 interactions.
IntActi P49918. 7 interactions.
MINTi MINT-128985.
STRINGi 9606.ENSP00000413720.

PTM databases

PhosphoSitei P49918.

Polymorphism databases

DMDMi 1705731.

Proteomic databases

MaxQBi P49918.
PaxDbi P49918.
PRIDEi P49918.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000414822 ; ENSP00000413720 ; ENSG00000129757 . [P49918-1 ]
ENST00000430149 ; ENSP00000411552 ; ENSG00000129757 . [P49918-1 ]
ENST00000440480 ; ENSP00000411257 ; ENSG00000129757 . [P49918-2 ]
GeneIDi 1028.
KEGGi hsa:1028.
UCSCi uc001lwr.4. human. [P49918-1 ]

Organism-specific databases

CTDi 1028.
GeneCardsi GC11M002904.
GeneReviewsi CDKN1C.
HGNCi HGNC:1786. CDKN1C.
HPAi HPA002924.
MIMi 130650. phenotype.
600856. gene.
614732. phenotype.
neXtProti NX_P49918.
Orphaneti 231120. Beckwith-Wiedemann syndrome due to CDKN1C mutation.
85173. IMAGe syndrome.
397590. Silver-Russell syndrome due to a point mutation.
PharmGKBi PA26320.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245842.
GeneTreei ENSGT00530000063588.
HOGENOMi HOG000294081.
HOVERGENi HBG107407.
InParanoidi P49918.
KOi K09993.
OMAi EQGANQG.
OrthoDBi EOG7GJ6HD.
PhylomeDBi P49918.
TreeFami TF101111.

Enzyme and pathway databases

SignaLinki P49918.

Miscellaneous databases

GeneWikii Cyclin-dependent_kinase_inhibitor_1C.
GenomeRNAii 1028.
NextBioi 4319.
PROi P49918.
SOURCEi Search...

Gene expression databases

Bgeei P49918.
CleanExi HS_CDKN1C.
ExpressionAtlasi P49918. baseline and differential.
Genevestigatori P49918.

Family and domain databases

InterProi IPR003175. CDI.
[Graphical view ]
PANTHERi PTHR10265. PTHR10265. 1 hit.
Pfami PF02234. CDI. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene."
    Matsuoka S., Edwards M.C., Bai C., Parker S., Zhang P., Baldini A., Harper J.W., Elledge S.J.
    Genes Dev. 9:650-662(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
    Tissue: Embryo.
  2. "Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay."
    Reid L.H., Crider-Miller S.J., West A., Lee M.H., Massague J., Weissman B.E.
    Cancer Res. 56:1214-1218(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
    Tissue: Placenta.
  4. "Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis."
    Tokino T., Urano T., Furuhata T., Matsushima M., Miyatsu T., Sasaki S., Nakamura Y.
    Hum. Genet. 97:625-631(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-316, VARIANTS.
  5. "Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation."
    Lam W.W.K., Hatada I., Ohishi S., Mukai T., Joyce J.A., Cole T.R.P., Donnai D., Reik W., Schofield P.N., Maher E.R.
    J. Med. Genet. 36:518-523(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BWS.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INTERACTION WITH PCNA, VARIANTS IMAGE ASN-274; SER-276; VAL-276; GLU-278 AND PRO-279, CHARACTERIZATION OF VARIANTS IMAGE SER-276 AND GLU-278.

Entry informationi

Entry nameiCDN1C_HUMAN
AccessioniPrimary (citable) accession number: P49918
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 29, 2014
This is version 132 of the entry and version 1 of the sequence. [Complete history]
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.

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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3