CDKN1C - cyclin dependent kinase inhibitor 1C Gene
Also Known as BWS; WBS; p57; BWCR; KIP2; p57Kip2
Species: Homo sapiens
About CDKN1C
This gene has 7 transcripts (splice variants), 1 gene allele, 219 orthologues, 2 paralogues and is associated with 8 phenotypes. Biased expression in placenta (RPKM 87.0), fat (RPKM 42.6) and 9 other tissues.
Summary
This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/CDK complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
CDKN1C Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000076.2 | NP_000067.1 | cyclin-dependent kinase inhibitor 1C isoform a |
| NM_001122630.2 | NP_001116102.1 | cyclin-dependent kinase inhibitor 1C isoform b |
| NM_001122631.2 | NP_001116103.1 | cyclin-dependent kinase inhibitor 1C isoform b |
| NM_001362474.2 | NP_001349403.1 | cyclin-dependent kinase inhibitor 1C isoform a |
| NM_001362475.2 | NP_001349404.1 | cyclin-dependent kinase inhibitor 1C isoform c |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables molecular function inhibitor activity |
IMP
IMP: Inferred from mutant phenotype
|
11746698 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9106657 | GOA |
| enables protein kinase inhibitor activity |
IMP
IMP: Inferred from mutant phenotype
|
11746698 | GOA |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
11746698 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
19170105 | GOA |
| involved in negative regulation of cyclin-dependent protein kinase activity |
IMP
IMP: Inferred from mutant phenotype
|
11746698 | GOA |
| involved in negative regulation of epithelial cell proliferation |
IMP
IMP: Inferred from mutant phenotype
|
16943770 | GOA |
| involved in negative regulation of kinase activity |
IDA
IDA: Inferred from direct assay
|
19170105 | GOA |
| involved in negative regulation of phosphorylation |
IDA
IDA: Inferred from direct assay
|
19170105 | GOA |
| involved in positive regulation of DNA-templated transcription |
IGI
IGI: Inferred from genetic interaction
|
19170105 | GOA |
| involved in positive regulation of transforming growth factor beta receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
16943770 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16943770 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16943770 | GOA |
CDKN1C Protein Structure
CDI: Cyclin-dependent kinase inhibitor (31 - 83)
- 0
- 100
- 200
- 300
- 316 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cyclin-dependent kinase inhibitor 1C |
|
CDKN1C Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CDKN1C | P49918 | FBXL12 | Homo sapiens | Q9NXK8 | 18660753 | |
|
Intra
|
CDKN1C | P49918 | FBXL12 | Homo sapiens | Q9NXK8 | 18660753 |
CDKN1C Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83209 | p57 Kip2 Antibody (YA2954) | WB, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P84361 | p57 Kip2 Antibody (YA4058) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84361A | p57 Kip2 Antibody (YA4058)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85924 | p57 Kip2 Antibody (YA5616) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P85964 | p57 Kip2 Antibody (YA5656) | IHC-P, WB, ICC/IF, ELISA | Human |
| HY-P86059 | p57 Kip2 Antibody (YA5751) | IHC-P, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Beckwith-Wiedemann Syndrome |
|
|
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
|
| Williams-Beuren Syndrome |
|
|
| Silver-Russell Syndrome Due To A Point Mutation |
|
|
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
|
| Omphalocele |
|
|
| Macroglossia |
|
|
| Fallopian Tube Gestational Choriocarcinoma |
|
|
| Umbilical Hernia |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Hydatidiform Mole, Recurrent, 1 |
|
|
| Gestational Trophoblastic Neoplasm |
|
|
| Adult Acute Lymphocytic Leukemia |
|
|
| Metaphyseal Dysplasia |
|
|
| Choriocarcinoma |
|
|
| Hemihyperplasia, Isolated |
|
|
| Chorioangioma |
|
|
| Hepatoblastoma |
|
|
| Mulchandani-Bhoj-Conlin Syndrome |
|
|
| Adrenal Cortical Adenoma |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Adrenal Adenoma |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Adrenal Carcinoma |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Wilms Tumor 5 |
|
|
| Follicular Lymphoma |
|
|
| Trophoblastic Neoplasm |
|
|
| B-Cell Lymphoma |
|
|
| Myelodysplastic Syndrome |
|
|
| Adrenal Hypoplasia, Congenital |
|
|
| Angelman Syndrome |
|
|
| Lung Cancer |
|
|
| Vallecula Cancer |
|
|
| Pleomorphic Rhabdomyosarcoma |
|
|
| Temple Syndrome |
|
|
| Rhabdomyosarcoma |
|
|
| Hematologic Cancer |
|
|
| Craniosynostosis |
|
|
| Meier-Gorlin Syndrome 1 |
|
|
| Transient Neonatal Diabetes Mellitus |
|
|
| Pancreatic Cancer |
|
|
| Burkitt Lymphoma |
|
|
| Familial Glucocorticoid Deficiency |
|
|
| Hepatocellular Carcinoma |
|
|
| Weaver Syndrome |
|
|
| Wilms Tumor 1 |
|
|
| Scoliosis |
|
|
| Polyhydramnios |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Sotos Syndrome |
|
|
| Rasopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CDKN1C | VGNC | VGNC:100908 |
| Bos taurus | CDKN1C | VGNC | VGNC:27144 |
| Felis catus | CDKN1C | VGNC | VGNC:102754 |
| Mus musculus | CDKN1C | MGD | MGI:104564 |
| Rattus norvegicus | CDKN1C | RGD | RGD:727892 |
| Others | CDKN1C | NCBI |