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CDKN3 cyclin dependent kinase inhibitor 3 [ Homo sapiens (human) ]

Gene ID: 1033, updated on 7-Dec-2018

Summary

Official Symbol
CDKN3provided by HGNC
Official Full Name
cyclin dependent kinase inhibitor 3provided by HGNC
Primary source
HGNC:HGNC:1791
See related
Ensembl:ENSG00000100526 MIM:123832
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
KAP; CDI1; CIP2; KAP1
Summary
The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Biased expression in testis (RPKM 79.3), bone marrow (RPKM 10.8) and 5 other tissues See more
Orthologs

Genomic context

See CDKN3 in Genome Data Viewer
Location:
14q22.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (54396868..54420218)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (54863657..54886936)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370507 Neighboring gene HNF4 motif-containing MPRA enhancer 145 Neighboring gene VISTA enhancer hs1414 Neighboring gene cornichon family AMPA receptor auxiliary protein 1 Neighboring gene glia maturation factor beta

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25787, MGC70625

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine/serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
cell cycle arrest IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase inhibitor 3
Names
CDK2-associated dual specificity phosphatase
Cdk-associated protein phosphatase
cyclin-dependent kinase inhibitor
cyclin-dependent kinase interacting protein 2
cyclin-dependent kinase interactor 1
kinase-associated phosphatase
NP_001124323.1
NP_001317102.1
NP_005183.2
XP_024305226.1

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_023235.1 RefSeqGene

    Range
    5001..28264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130851.1NP_001124323.1  cyclin-dependent kinase inhibitor 3 isoform 2

    See identical proteins and their annotated locations for NP_001124323.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AK098653, BC064965
    Consensus CDS
    CCDS45109.1
    UniProtKB/Swiss-Prot
    Q16667
    Related
    ENSP00000415333.2, ENST00000442975.6
    Conserved Domains (1) summary
    cl21483
    Location:11128
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  2. NM_001330173.1NP_001317102.1  cyclin-dependent kinase inhibitor 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL049778, AL359792
    Consensus CDS
    CCDS81804.1
    UniProtKB/TrEMBL
    G3V2J7
    Related
    ENSP00000450711.1, ENST00000556102.6
    Conserved Domains (1) summary
    pfam05706
    Location:1168
    CDKN3; Cyclin-dependent kinase inhibitor 3 (CDKN3)
  3. NM_005192.4NP_005183.2  cyclin-dependent kinase inhibitor 3 isoform 1

    See identical proteins and their annotated locations for NP_005183.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK098653, BC064965
    Consensus CDS
    CCDS9716.1
    UniProtKB/Swiss-Prot
    Q16667
    Related
    ENSP00000335357.6, ENST00000335183.10
    Conserved Domains (1) summary
    pfam05706
    Location:1168
    CDKN3; Cyclin-dependent kinase inhibitor 3 (CDKN3)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    54396868..54420218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449458.1XP_024305226.1  cyclin-dependent kinase inhibitor 3 isoform X1

    Conserved Domains (1) summary
    pfam05706
    Location:1168
    CDKN3; Cyclin-dependent kinase inhibitor 3 (CDKN3)
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