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CDKN1C cyclin dependent kinase inhibitor 1C [ Homo sapiens (human) ]

Gene ID: 1028, updated on 9-Jul-2017
Official Symbol
CDKN1Cprovided by HGNC
Official Full Name
cyclin dependent kinase inhibitor 1Cprovided by HGNC
Primary source
HGNC:HGNC:1786
See related
Ensembl:ENSG00000129757 MIM:600856; Vega:OTTHUMG00000010040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BWS; WBS; p57; BWCR; KIP2; p57Kip2
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]
Orthologs
Location:
11p15.4
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (2883218..2885804, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2904448..2907063, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily Q member 1 Neighboring gene KCNQ1 antisense RNA 1 Neighboring gene solute carrier family 22 member 18 antisense Neighboring gene KCNQ1 downstream neighbor (non-protein coding) Neighboring gene solute carrier family 22 member 18 Neighboring gene pleckstrin homology like domain family A member 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
    Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
  • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
    Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • G1 Phase, organism-specific biosystem (from REACTOME)
    G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
  • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
    G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
  • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
    Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
adrenal gland development IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
digestive system development IEA
Inferred from Electronic Annotation
more info
 
embryonic placenta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
genetic imprinting IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclin-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuron maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of exit from mitosis IEA
Inferred from Electronic Annotation
more info
 
regulation of lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
uterus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cyclin-dependent kinase inhibitor 1C
Names
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
cyclin-dependent kinase inhibitor p57

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008022.1 RefSeqGene

    Range
    5001..7548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_533

mRNA and Protein(s)

  1. NM_000076.2NP_000067.1  cyclin-dependent kinase inhibitor 1C isoform a

    See identical proteins and their annotated locations for NP_000067.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC013791, BC039188, CD676249, U22398
    Consensus CDS
    CCDS7738.1
    UniProtKB/Swiss-Prot
    P49918
    Related
    ENSP00000413720.3, OTTHUMP00000011736, ENST00000414822.7, OTTHUMT00000027774
    Conserved Domains (1) summary
    pfam02234
    Location:3278
    CDI; Cyclin-dependent kinase inhibitor
  2. NM_001122630.1NP_001116102.1  cyclin-dependent kinase inhibitor 1C isoform b

    See identical proteins and their annotated locations for NP_001116102.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
    Source sequence(s)
    AC013791, BC039188, CD676249, U22398
    Consensus CDS
    CCDS44519.1
    UniProtKB/Swiss-Prot
    P49918
    Related
    ENSP00000411257.2, OTTHUMP00000011738, ENST00000440480.6, OTTHUMT00000027776
    Conserved Domains (1) summary
    pfam02234
    Location:2167
    CDI; Cyclin-dependent kinase inhibitor
  3. NM_001122631.1NP_001116103.1  cyclin-dependent kinase inhibitor 1C isoform b

    See identical proteins and their annotated locations for NP_001116103.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate splice junction in the 3' UTR compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.
    Source sequence(s)
    AC013791, BC039188, BM673714, CD676249, U22398
    Consensus CDS
    CCDS44519.1
    UniProtKB/Swiss-Prot
    P49918
    Conserved Domains (1) summary
    pfam02234
    Location:2167
    CDI; Cyclin-dependent kinase inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

    Range
    2883218..2885804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252732.4XP_005252789.1  cyclin-dependent kinase inhibitor 1C isoform X2

    See identical proteins and their annotated locations for XP_005252789.1

    Conserved Domains (1) summary
    pfam02234
    Location:2167
    CDI; Cyclin-dependent kinase inhibitor
  2. XM_017017088.1XP_016872577.1  cyclin-dependent kinase inhibitor 1C isoform X1

    UniProtKB/Swiss-Prot
    P49918
    Related
    ENSP00000411552.2, OTTHUMP00000229152, ENST00000430149.2, OTTHUMT00000383081
    Conserved Domains (1) summary
    pfam02234
    Location:3278
    CDI; Cyclin-dependent kinase inhibitor

Reference GRCh38.p7 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p7 ALT_REF_LOCI_1

    Range
    115397..117975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    2903367..2905909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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