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

Gene ID: 1028, updated on 30-Aug-2020

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
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

Genomic context

See CDKN1C in Genome Data Viewer
Location:
11p15.4
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2883218..2885775, 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 CRISPRi-validated cis-regulatory element chr11.592 Neighboring gene KCNQ1 downstream neighbor Neighboring gene solute carrier family 22 member 18 antisense Neighboring gene solute carrier family 22 member 18 Neighboring gene pleckstrin homology like domain family A member 2

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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 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
    Related
    ENSP00000411552.2, ENST00000430149.3
    Conserved Domains (1) summary
    pfam02234
    Location:3278
    CDI; Cyclin-dependent kinase inhibitor
  2. NM_001122630.2NP_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, ENST00000440480.7
    Conserved Domains (1) summary
    pfam02234
    Location:2167
    CDI; Cyclin-dependent kinase inhibitor
  3. NM_001122631.2NP_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
  4. NM_001362474.2NP_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
    Related
    ENSP00000413720.3, ENST00000414822.8
    Conserved Domains (1) summary
    pfam02234
    Location:3278
    CDI; Cyclin-dependent kinase inhibitor
  5. NM_001362475.2NP_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
    Related
    ENSP00000496631.1, ENST00000647251.1
    Conserved Domains (1) summary
    pfam02234
    Location:2167
    CDI; Cyclin-dependent kinase inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2883218..2885775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    115397..117985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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