Cdkn1c cyclin dependent kinase inhibitor 1C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cdkn1cprovided by MGI
Official Full Name: cyclin dependent kinase inhibitor 1Cprovided by MGI
Primary source: MGI:MGI:104564
See related: Ensembl:ENSMUSG00000037664 AllianceGenome:MGI:104564
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CDKI; Kip2; p57Kip2; p57(kip2)
Summary: Predicted to enable protein kinase inhibitor activity. Involved in negative regulation of phosphorylation. Acts upstream of or within several processes, including embryonic placenta morphogenesis; regulation of gene expression; and uterus development. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Used to study Beckwith-Wiedemann syndrome and pre-eclampsia. Human ortholog(s) of this gene implicated in Beckwith-Wiedemann syndrome; IMAGe syndrome; and hyperinsulinism. Orthologous to human CDKN1C (cyclin dependent kinase inhibitor 1C). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 280.3), adrenal adult (RPKM 244.3) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 88.22 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (143012076..143014735, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (143458339..143461059, complement)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein restriction during pregnancy alters Cdkn1c silencing, dopamine circuitry and offspring behaviour without changing expression of key neuronal marker genes.
Title: Protein restriction during pregnancy alters Cdkn1c silencing, dopamine circuitry and offspring behaviour without changing expression of key neuronal marker genes.
Epigenetic control of the imprinted growth regulator Cdkn1c in cadmium-induced placental dysfunction.
Title: Epigenetic control of the imprinted growth regulator Cdkn1c in cadmium-induced placental dysfunction.
p57[Kip2] acts as a transcriptional corepressor to regulate intestinal stem cell fate and proliferation.
Title: p57(Kip2) acts as a transcriptional corepressor to regulate intestinal stem cell fate and proliferation.
p57Kip2 is an essential regulator of vitamin D receptor-dependent mechanisms.
Title: p57Kip2 is an essential regulator of vitamin D receptor-dependent mechanisms.
IGF2 interacts with the imprinted gene Cdkn1c to promote terminal differentiation of neural stem cells.
Title: IGF2 interacts with the imprinted gene Cdkn1c to promote terminal differentiation of neural stem cells.
p57(Kip2) imposes the reserve stem cell state of gastric chief cells.
Title: p57(Kip2) imposes the reserve stem cell state of gastric chief cells.
Role of the imprinted allele of the Cdkn1c gene in mouse neocortical development.
Title: Role of the imprinted allele of the Cdkn1c gene in mouse neocortical development.
Cdkn1c locus regulates cortical development through distinct cell-autonomous and non-cell-autonomous mechanisms.
Title: Imprinted Cdkn1c genomic locus cell-autonomously promotes cell survival in cerebral cortex development.
The results reveal a novel Shh-Foxd1-Cdkn1c regulatory circuit that drives the mitogenic action of Shh signaling. Shh pathway activation of Foxd1 is followed by downregulation of Cdkn1c, which encodes a cyclin-dependent kinase inhibitor.
Title: Coordinated d-cyclin/Foxd1 activation drives mitogenic activity of the Sonic Hedgehog signaling pathway.
Here we show that loss of Ezh2 resulted in altered expression of several key cyclin-dependent kinase inhibitors including Cdkn2a (p16 and Arf) and Cdkn1c (p57) in naive CD8+ T cells after activation, which explained the cell cycle impairment of Ezh2-deficient naive CD8+ T cells in response to antigenic stimulation.
Title: Ezh2 Regulates Activation-Induced CD8(+) T Cell Cycle Progression via Repressing Cdkn2a and Cdkn1c Expression.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:532227

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

UniSTS:265486 (e-PCR)
- UniSTS:265486

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:265486

UniSTS:470552 (e-PCR)
- UniSTS:470552

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:470552

NoName (e-PCR)
- UniSTS:548377

RH125540 (e-PCR)
- UniSTS:162355

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:516696

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:516445

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:516463

PMC187562P1 (e-PCR)
- UniSTS:271730

NoName (e-PCR)
- UniSTS:548210

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:516470

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:525478

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:532134

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:506793

PMC307617P1 (e-PCR)
- UniSTS:272580

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:141309

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:141310

UniSTS:141311 (e-PCR)
- UniSTS:141311

Cdkn1c (e-PCR), detects polymorphism
- UniSTS:141311

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adrenal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic placenta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within genomic imprinting	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cyclin-dependent protein kinase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of kinase activity	ISO Inferred from Sequence Orthology more info
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 phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of exit from mitosis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of lens fiber cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within uterus development	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: cyclin-dependent kinase inhibitor 1C

Names: cyclin dependent kinase inhibitor 1C (P57); 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.

mRNA and Protein(s)

NM_001161624.2 → NP_001155096.1 cyclin-dependent kinase inhibitor 1C isoform 1

See identical proteins and their annotated locations for NP_001155096.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC023248

Consensus CDS

CCDS52463.1

UniProtKB/Swiss-Prot

G3UW61, P49919

UniProtKB/TrEMBL

Q8BP34

Related

ENSMUSP00000128828.2, ENSMUST00000167912.9

Conserved Domains (2) summary

PTZ00341
Location:197 → 281

PTZ00341; Ring-infected erythrocyte surface antigen; Provisional

pfam02234
Location:34 → 81

CDI; Cyclin-dependent kinase inhibitor
NM_001354981.2 → NP_001341910.1 cyclin-dependent kinase inhibitor 1C isoform 2

Status: VALIDATED

Source sequence(s)

AC023248

Consensus CDS

CCDS22040.1

UniProtKB/TrEMBL

Q791X1, Q8BP34, Q91V06

Conserved Domains (2) summary

PTZ00341
Location:184 → 268

PTZ00341; Ring-infected erythrocyte surface antigen; Provisional

pfam02234
Location:21 → 68

CDI; Cyclin-dependent kinase inhibitor
NM_001412230.1 → NP_001399159.1 cyclin-dependent kinase inhibitor 1C isoform 3

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412231.1 → NP_001399160.1 cyclin-dependent kinase inhibitor 1C isoform 3

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412232.1 → NP_001399161.1 cyclin-dependent kinase inhibitor 1C isoform 1

Status: VALIDATED

Source sequence(s)

AC023248

UniProtKB/Swiss-Prot

G3UW61, P49919
NM_001412233.1 → NP_001399162.1 cyclin-dependent kinase inhibitor 1C isoform 4

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412234.1 → NP_001399163.1 cyclin-dependent kinase inhibitor 1C isoform 4

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412235.1 → NP_001399164.1 cyclin-dependent kinase inhibitor 1C isoform 4

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412236.1 → NP_001399165.1 cyclin-dependent kinase inhibitor 1C isoform 4

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412237.1 → NP_001399166.1 cyclin-dependent kinase inhibitor 1C isoform 2

Status: VALIDATED

Source sequence(s)

AC023248

UniProtKB/TrEMBL

Q791X1, Q91V06
NM_001412238.1 → NP_001399167.1 cyclin-dependent kinase inhibitor 1C isoform 2

Status: VALIDATED

Source sequence(s)

AC023248

UniProtKB/TrEMBL

Q791X1, Q91V06
NM_001412239.1 → NP_001399168.1 cyclin-dependent kinase inhibitor 1C isoform 5

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412240.1 → NP_001399169.1 cyclin-dependent kinase inhibitor 1C isoform 6

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412241.1 → NP_001399170.1 cyclin-dependent kinase inhibitor 1C isoform 6

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412242.1 → NP_001399171.1 cyclin-dependent kinase inhibitor 1C isoform 6

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412243.1 → NP_001399172.1 cyclin-dependent kinase inhibitor 1C isoform 7

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412244.1 → NP_001399173.1 cyclin-dependent kinase inhibitor 1C isoform 7

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412245.1 → NP_001399174.1 cyclin-dependent kinase inhibitor 1C isoform 7

Status: VALIDATED

Source sequence(s)

AC023248
NM_001412246.1 → NP_001399175.1 cyclin-dependent kinase inhibitor 1C isoform 7

Status: VALIDATED

Source sequence(s)

AC023248
NM_009876.5 → NP_034006.3 cyclin-dependent kinase inhibitor 1C isoform 2

See identical proteins and their annotated locations for NP_034006.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate in-frame splice site in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter C-terminus, compared to isoform 1.

Source sequence(s)

AC023248

Consensus CDS

CCDS22040.1

UniProtKB/TrEMBL

Q791X1, Q8BP34, Q91V06

Related

ENSMUSP00000037302.7, ENSMUST00000037287.8

Conserved Domains (2) summary

PTZ00341
Location:184 → 268

PTZ00341; Ring-infected erythrocyte surface antigen; Provisional

pfam02234
Location:21 → 68

CDI; Cyclin-dependent kinase inhibitor