Cyclin-dependent kinase inhibitor 1C
Encyclopedia
Cyclin-dependent kinase inhibitor 1C (p57, Kip2), also known as CDKN1C, is protein
which in humans is encoded by the CDKN1C imprinted gene
.
suggesting that it is a tumor suppressor candidate.
CDKN1C is a tumor suppressor human gene
on chromosome 11 (11p15) and belongs to the cip/kip gene family. It encodes a cell cycle
inhibitor that binds to G1 cyclin-CDK complexes. Thus p57KIP2 causes arrest of the cell cycle in G1 phase
.
of this gene may lead to loss of control over the cell cycle leading to uncontrolled cellular proliferation. p57KIP2 has been associated with Beckwith-Wiedemann syndrome
(BWS) which is characterized by increased risk of tumor formation in childhood.
with MyoD
, MYBL2
, PCNA
and LIMK1
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the CDKN1C imprinted gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
suggesting that it is a tumor suppressor candidate.
CDKN1C is a tumor suppressor human gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
on chromosome 11 (11p15) and belongs to the cip/kip gene family. It encodes a cell cycle
Cell cycle
The cell cycle, or cell-division cycle, is the series of events that takes place in a cell leading to its division and duplication . In cells without a nucleus , the cell cycle occurs via a process termed binary fission...
inhibitor that binds to G1 cyclin-CDK complexes. Thus p57KIP2 causes arrest of the cell cycle in G1 phase
G1 phase
The G1 phase is a period in the cell cycle during interphase, before the S phase. For many cells, this phase is the major period of cell growth during its lifespan. During this stage new organelles are being synthesized, so the cell requires both structural proteins and enzymes, resulting in great...
.
Clinical significance
A mutationMutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
of this gene may lead to loss of control over the cell cycle leading to uncontrolled cellular proliferation. p57KIP2 has been associated with Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
(BWS) which is characterized by increased risk of tumor formation in childhood.
Interactions
Cyclin-dependent kinase inhibitor 1C has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with MyoD
MyoD
MyoD is a protein with a key role in regulating muscle differentiation. MyoD belongs to a family of proteins known as myogenic regulatory factors . These bHLH transcription factors act sequentially in myogenic differentiation. MRF family members include MyoD, Myf5, myogenin, and MRF4 .MyoD is one...
, MYBL2
MYBL2
Myb-related protein B is a protein that in humans is encoded by the MYBL2 gene.-Interactions:MYBL2 has been shown to interact with Retinoblastoma-like protein 1, Cyclin A1, EP300, CREB-binding protein, CDK9, Cyclin-dependent kinase inhibitor 1C and PARP1.-Further reading:...
, PCNA
PCNA
Proliferating Cell Nuclear Antigen, commonly known as PCNA, is a protein that acts as a processivity factor for DNA polymerase δ in eukaryotic cells. It achieves this processivity by encircling the DNA, thus creating a topological link to the genome...
and LIMK1
LIMK1
LIM domain kinase 1 is an enzyme that in humans is encoded by the LIMK1 gene.-Interactions:LIMK1 has been shown to interact with PAK1, YWHAZ, PAK4, Cofilin 1, Neuregulin 1 and Cyclin-dependent kinase inhibitor 1C.-External links:...
.