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

Summary

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; AllianceGenome:HGNC:1786
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]
Expression: Biased expression in placenta (RPKM 87.0), fat (RPKM 42.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2883218..2885775, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2972459..2975017, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2904448..2907005, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.
Title: Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.
STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57[Kip2].
Title: STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57(Kip2).
Promoter methylation and enhanced SKP2 are associated with the downregulation of CDKN1C in cervical squamous cell carcinoma.
Title: Promoter methylation and enhanced SKP2 are associated with the downregulation of CDKN1C in cervical squamous cell carcinoma.
MYOD-SKP2 axis boosts tumorigenesis in fusion negative rhabdomyosarcoma by preventing differentiation through p57[Kip2] targeting.
Title: MYOD-SKP2 axis boosts tumorigenesis in fusion negative rhabdomyosarcoma by preventing differentiation through p57(Kip2) targeting.
Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.
Title: Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.
Exploiting the fibroblast growth factor receptor-1 vulnerability to therapeutically restrict the MYC-EZH2-CDKN1C axis-driven proliferation in Mantle cell lymphoma.
Title: Exploiting the fibroblast growth factor receptor-1 vulnerability to therapeutically restrict the MYC-EZH2-CDKN1C axis-driven proliferation in Mantle cell lymphoma.
PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A.
Title: PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A.
Identification and targeting of a HES1-YAP1-CDKN1C functional interaction in fusion-negative rhabdomyosarcoma.
Title: Identification and targeting of a HES1-YAP1-CDKN1C functional interaction in fusion-negative rhabdomyosarcoma.
High Maternal Serum Estradiol in First Trimester of Multiple Pregnancy Contributes to Small for Gestational Age via DNMT1-Mediated CDKN1C Upregulation.
Title: High Maternal Serum Estradiol in First Trimester of Multiple Pregnancy Contributes to Small for Gestational Age via DNMT1-Mediated CDKN1C Upregulation.
Loss of p57 Expression in Conceptions Other Than Complete Hydatidiform Mole: A Case Series With Emphasis on the Etiology, Genetics, and Clinical Significance.
Title: Loss of p57 Expression in Conceptions Other Than Complete Hydatidiform Mole: A Case Series With Emphasis on the Etiology, Genetics, and Clinical Significance.

Submit: New GeneRIF Correction See all GeneRIFs (195)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Beckwith-Wiedemann syndrome MedGen: C0004903 OMIM: 130650 GeneReviews: Wilms Tumor Predisposition, Beckwith-Wiedemann Syndrome	not available
IMAGe syndrome MedGen: C1846009 OMIM: 614732 GeneReviews: IMAGe Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-09-25) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-25) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_54883-54884:1155673702:1 (e-PCR)
- UniSTS:508166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables molecular function inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adrenal gland development	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in digestive system development	IEA Inferred from Electronic Annotation more info
involved_in embryonic placenta morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in genomic imprinting	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cyclin-dependent protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of exit from mitosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of lens fiber cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in uterus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclin-dependent kinase inhibitor 1C

Names: cyclin-dependent kinase inhibitor 1C (p57, Kip2); cyclin-dependent kinase inhibitor p57

NCBI Reference Sequences (RefSeq)

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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

NG_008022.1 RefSeqGene

Range

5001..7548

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_533

mRNA and Protein(s)

NM_000076.2 → NP_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 longest isoform (a). Variants 1 and 3 both encode isoform a.

Source sequence(s)

AC013791, BC039188, CD676249, U22398

Consensus CDS

CCDS7738.1

UniProtKB/Swiss-Prot

P49918

UniProtKB/TrEMBL

A0A0G2JPX0

Related

ENSP00000411552.2, ENST00000430149.3

Conserved Domains (1) summary

pfam02234
Location:32 → 78

CDI; Cyclin-dependent kinase inhibitor
NM_001122630.2 → NP_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/TrEMBL

B2D1N3

Related

ENSP00000411257.2, ENST00000440480.8

Conserved Domains (1) summary

pfam02234
Location:21 → 67

CDI; Cyclin-dependent kinase inhibitor
NM_001122631.2 → NP_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/TrEMBL

B2D1N3

Conserved Domains (1) summary

pfam02234
Location:21 → 67

CDI; Cyclin-dependent kinase inhibitor
NM_001362474.2 → NP_001349403.1 cyclin-dependent kinase inhibitor 1C isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR compared to variant 1. Variants 1 and 3 both encode isoform a.

Source sequence(s)

AC013791

Consensus CDS

CCDS7738.1

UniProtKB/Swiss-Prot

P49918

UniProtKB/TrEMBL

A0A0G2JPX0

Related

ENSP00000413720.3, ENST00000414822.8

Conserved Domains (1) summary

pfam02234
Location:32 → 78

CDI; Cyclin-dependent kinase inhibitor
NM_001362475.2 → NP_001349404.1 cyclin-dependent kinase inhibitor 1C isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice site in the coding region, compared to variant 1, which results in a frameshift. The encoded protein (isoform c) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC013791

Consensus CDS

CCDS86169.1

UniProtKB/TrEMBL

A0A2R8YFP9

Related

ENSP00000496631.1, ENST00000647251.1

Conserved Domains (1) summary

pfam02234
Location:22 → 68

CDI; Cyclin-dependent kinase inhibitor