CDKN1C | ENSG00000129757 | NCBI 1028

Details for: CDKN1C

Gene ID: 1028

Symbol: CDKN1C

Ensembl ID: ENSG00000129757

Description: cyclin dependent kinase inhibitor 1C

Associated with

Aberrant regulation of mitotic cell cycle due to rb1 defects
(R-HSA-9687139)
Aberrant regulation of mitotic g1/s transition in cancer due to rb1 defects
(R-HSA-9659787)
Cell cycle, mitotic
(R-HSA-69278)
Cyclin d associated events in g1
(R-HSA-69231)
Defective binding of rb1 mutants to e2f1,(e2f2, e2f3)
(R-HSA-9661069)
Disease
(R-HSA-1643685)
Diseases of mitotic cell cycle
(R-HSA-9675126)
G1 phase
(R-HSA-69236)
Mitotic g1 phase and g1/s transition
(R-HSA-453279)
Adrenal gland development
(GO:0030325)
Camera-type eye development
(GO:0043010)
Cell cycle
(GO:0007049)
Cyclin-dependent protein serine/threonine kinase inhibitor activity
(GO:0004861)
Cytoplasm
(GO:0005737)
Digestive system development
(GO:0055123)
Embryonic placenta morphogenesis
(GO:0060669)
Genomic imprinting
(GO:0071514)
Kidney development
(GO:0001822)
Molecular function inhibitor activity
(GO:0140678)
Multicellular organism growth
(GO:0035264)
Myeloid cell differentiation
(GO:0030099)
Negative regulation of cyclin-dependent protein kinase activity
(GO:1904030)
Negative regulation of cyclin-dependent protein serine/threonine kinase activity
(GO:0045736)
Negative regulation of dna-templated transcription
(GO:0045892)
Negative regulation of epithelial cell proliferation
(GO:0050680)
Negative regulation of kinase activity
(GO:0033673)
Negative regulation of mitotic cell cycle
(GO:0045930)
Negative regulation of phosphorylation
(GO:0042326)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neuron maturation
(GO:0042551)
Nucleus
(GO:0005634)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of transforming growth factor beta receptor signaling pathway
(GO:0030511)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Protein kinase inhibitor activity
(GO:0004860)
Regulation of exit from mitosis
(GO:0007096)
Regulation of lens fiber cell differentiation
(GO:1902746)
Skeletal system development
(GO:0001501)
Uterus development
(GO:0060065)

Other Information

Proteins

Cyclin-dependent kinase inhibitor 1C

Genular Protein ID: 2986461387

Symbol: CDN1C_HUMAN

Name: Cyclin-dependent kinase inhibitor 1C

UniProtKB Accession Codes:

P49918

Database IDs:

Citations:

PubMed ID: 7729684

Title: p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene.

PubMed ID: 7729684

DOI: 10.1101/gad.9.6.650

PubMed ID: 8640800

Title: Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay.

PubMed ID: 8640800

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8655143

Title: Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis.

PubMed ID: 8655143

DOI: 10.1007/bf02281873

PubMed ID: 10424811

Title: Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

PubMed ID: 10424811

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 22634751

Title: Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

PubMed ID: 22634751

DOI: 10.1038/ng.2275

PubMed ID: 26077438

Title: Mutations of the imprinted CDKN1C gene as a cause of the overgrowth Beckwith-Wiedemann syndrome: clinical spectrum and functional characterization.

PubMed ID: 26077438

DOI: 10.1002/humu.22824

Sequence Information:

Length: 316
Mass: 32177
Checksum: A94CCBF09F8CB3E4
Sequence:

MSDASLRSTS TMERLVARGT FPVLVRTSAC RSLFGPVDHE ELSRELQARL AELNAEDQNR 
WDYDFQQDMP LRGPGRLQWT EVDSDSVPAF YRETVQVGRC RLLLAPRPVA VAVAVSPPLE 
PAAESLDGLE EAPEQLPSVP VPAPASTPPP VPVLAPAPAP APAPVAAPVA APVAVAVLAP 
APAPAPAPAP APAPVAAPAP APAPAPAPAP APAPAPDAAP QESAEQGANQ GQRGQEPLAD 
QLHSGISGRP AAGTAAASAN GAAIKKLSGP LISDFFAKRK RSAPEKSSGD VPAPCPSPSA 
APGVGSVEQT PRKRLR

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CDKN1C

Associated with

Other Information

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. PubMed ID: 7729684

Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay. PubMed ID: 8640800

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. PubMed ID: 8655143

Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. PubMed ID: 10424811

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. PubMed ID: 22634751

Mutations of the imprinted CDKN1C gene as a cause of the overgrowth Beckwith-Wiedemann syndrome: clinical spectrum and functional characterization. PubMed ID: 26077438