CDKN1C
entrez
1028
canonical
uniprot
P49918
canonical
ensembl
ENSG00000129757
resolver
ensp
ENSP00000411257
resolver
ensp
ENSP00000411552
resolver
ensp
ENSP00000413720
resolver
ensp
ENSP00000496631
resolver
ensp
ENSP00000561502
resolver
enst
ENST00000647251
resolver
genesymbol
CDKN1C
resolver
genesymbol_syn
KIP2
resolver
hgnc
HGNC:1786
resolver
uniprot
A0A2R8YFP9
resolver
uniprot_entry
A0A2R8YFP9_HUMAN
resolver
uniprot_entry
CDN1C_HUMAN
resolver
amino_acid_sequence
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10424811, ECO:0000269|PubMed:26077438}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:22634751}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
32177
uniprot
proteins
protein_family
CDI family
uniprot
proteins
pubmed
10424811
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
22634751
uniprot
proteins
pubmed
26077438
uniprot
proteins
pubmed
7729684
uniprot
proteins
pubmed
8640800
uniprot
proteins
pubmed
8655143
uniprot
proteins
sequence_length
316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins