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CDK6 cyclin dependent kinase 6 [ Homo sapiens (human) ]

Gene ID: 1021, updated on 20-Jun-2021

Summary

Official Symbol
CDK6provided by HGNC
Official Full Name
cyclin dependent kinase 6provided by HGNC
Primary source
HGNC:HGNC:1777
See related
Ensembl:ENSG00000105810 MIM:603368
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
MCPH12; PLSTIRE
Summary
The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in placenta (RPKM 9.3), bone marrow (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

See CDK6 in Genome Data Viewer
Location:
7q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (92604921..92836573, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92234235..92465887, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 133 member B Neighboring gene uncharacterized LOC105375397 Neighboring gene uncharacterized LOC112268009 Neighboring gene RNA, U6 small nuclear 10, pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 59/60 Neighboring gene CDK6 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene

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
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analysis identifies 20 loci that influence adult height.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
GeneReviews: Not available
Identification of ten loci associated with height highlights new biological pathways in human growth.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
GeneReviews: Not available
Primary autosomal recessive microcephaly 12
MedGen: C4015156 OMIM: 616080 GeneReviews: Not available
Compare labs

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CDK6 PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Expression of HIV-1 Tat downregulates the abundance of cyclin-dependent kinase 6 (CDK6) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC59692

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables FBXO family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables RNA polymerase II CTD heptapeptide repeat kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
involved_in astrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cell dedifferentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in dentate gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in generation of neurons ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in gliogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lateral ventricle development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
involved_in negative regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of monocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of myeloid cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell cycle TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell motility ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to virus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in type B pancreatic cell development IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of cyclin-dependent protein kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase 6
Names
cell division protein kinase 6
serine/threonine-protein kinase PLSTIRE
NP_001138778.1
NP_001250.1
XP_006715898.1

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_015888.1 RefSeqGene

    Range
    5001..236707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_991

mRNA and Protein(s)

  1. NM_001145306.2NP_001138778.1  cyclin-dependent kinase 6

    See identical proteins and their annotated locations for NP_001138778.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript.
    Source sequence(s)
    AC000065, AC005156, AK313491, AW665776, BC027989, BC052264, BQ773638
    Consensus CDS
    CCDS5628.1
    UniProtKB/Swiss-Prot
    Q00534
    Related
    ENSP00000397087.3, ENST00000424848.3
    Conserved Domains (1) summary
    cd07862
    Location:11300
    STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6
  2. NM_001259.8NP_001250.1  cyclin-dependent kinase 6

    See identical proteins and their annotated locations for NP_001250.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2.
    Source sequence(s)
    AC000065, AC004011, AC005156, AI738486, BC027989, BC052264, BQ773638
    Consensus CDS
    CCDS5628.1
    UniProtKB/Swiss-Prot
    Q00534
    Related
    ENSP00000265734.4, ENST00000265734.8
    Conserved Domains (1) summary
    cd07862
    Location:11300
    STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    92604921..92836573 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715835.2XP_006715898.1  cyclin-dependent kinase 6 isoform X1

    See identical proteins and their annotated locations for XP_006715898.1

    UniProtKB/Swiss-Prot
    Q00534
    Conserved Domains (1) summary
    cd07862
    Location:11300
    STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6
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