CDKN1A (cyclin-dependent kinase inhibitor 1A)
| Written | 2001-04 | Delphine Javelaud, Françoise Besançon |
| Institut Curie, Pavillon Pasteur, Unité INSERM 365, 26 rue d'Ulm, 75231 Paris cedex 05, France |
(Note : for Links provided by Atlas : click)
1. Identity
| Alias_names | General Information |
| cyclin-dependent kinase inhibitor 1A (p21 | |
| Alias_symbol (synonym) | P21 |
| CIP1 | |
| WAF1 | |
| SDI1 | |
| CAP20 | |
| p21CIP1 | |
| p21Cip1/Waf1 | |
| Other alias | p21 |
| WAF1 (Wild type p53 activated protein-1) | |
| CIP1 (CDK- interacting protein) | |
| SDI1 (Senescence cell- derived inhibitor-1) | |
| MDA-6 (melanoma differentiation-asssociated protein-1) | |
| HGNC (Hugo) | CDKN1A |
| LocusID (NCBI) | 1026 |
| Atlas_Id | 139 |
| Location | 6p21.2 [Link to chromosome band 6p21] |
| Location_base_pair | Starts at 36676490 and ends at 36687339 bp from pter ( according to hg19-Feb_2009) [Mapping CDKN1A.png] |
 | |
| CDKN1A (6p21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| CDKN1A (6p21.2) / CD9 (12p13.31) | CDKN1A (6p21.2) / CDKN1A (6p21.2) | CDKN1A (6p21.2) / GAPDH (12p13.31) | |
| CREB3L2 (7q33) / CDKN1A (6p21.2) | RCN2 (15q24.3) / CDKN1A (6p21.2) | UBR4 (1p36.13) / CDKN1A (6p21.2) | |
2. DNA/RNA
| Description | 3 exons (68, 450, 1600 pb ; the first exon is not translated) |
| Transcription | 2,1 kb mRNA, expression regulated at both transcriptional and post-transcriptional levels. |
3. Protein
 | |
| Description | 164 amino acids, 18 kDa. Contains interacting domains with several proteins (see Figure) and a nuclear localization signal. |
| Expression | in all adult human tissues. CDKN1A expression in the developing mouse embryo is correlated with cell-cycle arrest that precedes terminal differentiation in a variety of tissues. |
| Localisation | nuclear and cytoplasmic. |
| Function | can interact with cytoplasmic proteins ( pro-caspase-3, ASK-1, JNK, CaM, cyclinD-CDK4). |
| Homology | with p27kip1 and p57kip2 in the N- terminal. |
4. Mutations
| Somatic | Analysis of normal and tumor cells revealed two common variants in the CDKN1A gene which were not unique to tumors: a C to A substitution at codon 31 (Ser 31-to-Arg) which does not result in loss of activity and a C to T change in the 3' untranslated region of the CDKN1A gene, 20 bp following the stop codon. In prostate cancer, a single base insertion at codon 35, resulting in frameshift, protein troncation and impairement of activity, has been identified. A Phe to Leu change at codon 63, an Arg to Trp change at position 94 and an Asn to Ser change at position 50 were observed in a Burkitt's lymphoma, a human breast carcinoma and a malignant melanoma cell line, respectively. |
5. Bibliography
| Apoptosis inhibitory activity of cytoplasmic p21(Cip1/WAF1) in monocytic differentiation. |
| Asada M, Yamada T, Ichijo H, Delia D, Miyazono K, Fukumuro K, Mizutani S |
| The EMBO journal. 1999 ; 18 (5) : 1223-1234. |
| PMID 10064589 |
| A single nucleotide substitution at codon 31 (Ser/Arg) defines a polymorphism in a highly conserved region of the p53-inducible gene WAF1/CIP1. |
| Chedid M, Michieli P, Lengel C, Huppi K, Givol D |
| Oncogene. 1994 ; 9 (10) : 3021-3024. |
| PMID 8084608 |
| p21(WAF1/Cip1): more than a break to the cell cycle? |
| Dotto GP |
| Biochimica et biophysica acta. 2000 ; 1471 (1) : M43-M56. |
| PMID 10967424 |
| Transcriptional regulation of the p21((WAF1/CIP1)) gene. |
| Gartel AL, Tyner AL |
| Experimental cell research. 1999 ; 246 (2) : 280-289. |
| PMID 9925742 |
| The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. |
| Harper JW, Adami GR, Wei N, Keyomarsi K, Elledge SJ |
| Cell. 1993 ; 75 (4) : 805-816. |
| PMID 8242751 |
| Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. |
| Mousses S, Ozçelik H, Lee PD, Malkin D, Bull SB, Andrulis IL |
| Human molecular genetics. 1995 ; 4 (6) : 1089-1092. |
| PMID 7655464 |
| p53-independent expression of p21Cip1 in muscle and other terminally differentiating cells. |
| Parker SB, Eichele G, Zhang P, Rawls A, Sands AT, Bradley A, Olson EN, Harper JW, Elledge SJ |
| Science (New York, N.Y.). 1995 ; 267 (5200) : 1024-1027. |
| PMID 7863329 |
6. Citation
| This paper should be referenced as such : |
| Javelaud, D ; Besanè_on, F |
| CDKN1A (cyclin-dependent kinase inhibitor 1A) |
| Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):170-171. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/CDKN1AID139.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
|
Neuro-Endocrine/Endocrine system: Carcinoid tumors
t(6;12)(p21;p13) CDKN1A/CD9 |
7. External links
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 17 18:51:16 CET 2019 |
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