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

Gene ID: 12577, updated on 22-Apr-2024

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 animal organ development; genetic imprinting; and regulation of exit from mitosis. 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, Apr 2022]
Expression
Biased expression in limb E14.5 (RPKM 280.3), adrenal adult (RPKM 244.3) and 10 other tissues See more
Orthologs
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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_000073.7Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel, subfamily Q, member 1 Neighboring gene KCNQ1 overlapping transcript 1 Neighboring gene STARR-positive B cell enhancer ABC_E10485 Neighboring gene RIKEN cDNA 4933417O13 gene Neighboring gene STARR-seq mESC enhancer starr_20528 Neighboring gene STARR-seq mESC enhancer starr_20529 Neighboring gene STARR-seq mESC enhancer starr_20530 Neighboring gene predicted gene, 33663 Neighboring gene solute carrier family 22 (organic cation transporter), member 18

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 cell cycle IEA
Inferred from Electronic Annotation
more info
 
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 cyclin-dependent protein serine/threonine kinase activity 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
 
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
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

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)

  1. NM_001161624.2NP_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:197281
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    pfam02234
    Location:3481
    CDI; Cyclin-dependent kinase inhibitor
  2. NM_001354981.2NP_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:184268
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    pfam02234
    Location:2168
    CDI; Cyclin-dependent kinase inhibitor
  3. NM_001412230.1NP_001399159.1  cyclin-dependent kinase inhibitor 1C isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC023248
  4. NM_001412231.1NP_001399160.1  cyclin-dependent kinase inhibitor 1C isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC023248
  5. NM_001412232.1NP_001399161.1  cyclin-dependent kinase inhibitor 1C isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC023248
    UniProtKB/Swiss-Prot
    G3UW61, P49919
  6. NM_001412233.1NP_001399162.1  cyclin-dependent kinase inhibitor 1C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023248
  7. NM_001412234.1NP_001399163.1  cyclin-dependent kinase inhibitor 1C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023248
  8. NM_001412235.1NP_001399164.1  cyclin-dependent kinase inhibitor 1C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023248
  9. NM_001412236.1NP_001399165.1  cyclin-dependent kinase inhibitor 1C isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023248
  10. NM_001412237.1NP_001399166.1  cyclin-dependent kinase inhibitor 1C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC023248
    UniProtKB/TrEMBL
    Q791X1, Q91V06
  11. NM_001412238.1NP_001399167.1  cyclin-dependent kinase inhibitor 1C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC023248
    UniProtKB/TrEMBL
    Q791X1, Q91V06
  12. NM_001412239.1NP_001399168.1  cyclin-dependent kinase inhibitor 1C isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC023248
  13. NM_001412240.1NP_001399169.1  cyclin-dependent kinase inhibitor 1C isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023248
  14. NM_001412241.1NP_001399170.1  cyclin-dependent kinase inhibitor 1C isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023248
  15. NM_001412242.1NP_001399171.1  cyclin-dependent kinase inhibitor 1C isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023248
  16. NM_001412243.1NP_001399172.1  cyclin-dependent kinase inhibitor 1C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023248
  17. NM_001412244.1NP_001399173.1  cyclin-dependent kinase inhibitor 1C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023248
  18. NM_001412245.1NP_001399174.1  cyclin-dependent kinase inhibitor 1C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023248
  19. NM_001412246.1NP_001399175.1  cyclin-dependent kinase inhibitor 1C isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC023248
  20. NM_009876.5NP_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:184268
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    pfam02234
    Location:2168
    CDI; Cyclin-dependent kinase inhibitor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    143012076..143014735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)