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

    Gene ID: 1028, updated on 5-Jul-2021

    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
    NEW
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    Genomic context

    See CDKN1C in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2883218..2885775, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2904448..2907005, 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?

    Phenotypes

    Associated conditions

    Description Tests
    Beckwith-Wiedemann syndrome Compare labs
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    GeneReviews: Not available
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
    MedGen: C1846009 OMIM: 614732 GeneReviews: IMAGe Syndrome
    Compare labs

    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

    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
    enables cyclin-dependent protein serine/threonine kinase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000440480.8
      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:2268
      CDI; Cyclin-dependent kinase inhibitor

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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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