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CDK4 cyclin dependent kinase 4 [ Homo sapiens (human) ]

Gene ID: 1019, updated on 3-Oct-2020

Summary

Official Symbol
CDK4provided by HGNC
Official Full Name
cyclin dependent kinase 4provided by HGNC
Primary source
HGNC:HGNC:1773
See related
Ensembl:ENSG00000135446 MIM:123829
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
CMM3; PSK-J3
Summary
The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 36.9), endometrium (RPKM 35.9) and 25 other tissues See more
Orthologs

Genomic context

See CDK4 in Genome Data Viewer
Location:
12q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57747727..57752310, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58141510..58146304, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene OS9 endoplasmic reticulum lectin Neighboring gene AGAP2 antisense RNA 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Neighboring gene tetraspanin 31 Neighboring gene microRNA 6759 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene cytochrome P450 family 27 subfamily B member 1

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
Cutaneous malignant melanoma 3
MedGen: C1836892 OMIM: 609048 GeneReviews: Not available
Compare labs
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2020-09-02)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2020-09-02)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat When expressed in astrocytes, neurons, and non-glial 293T cells, HIV-1 Tat interacts with a number of cell cycle-related proteins including cyclin A, cyclin B, cyclin D3, Cdk2, Cdk4, Cdk1/Cdc2, cdc6, p27, p53, p63, hdlg, and PCNA PubMed
tat Cell cycle progression through G1 phase, and in particular the activity of the G1-specific CDK4, is required for HIV-1 Tat transactivation of the HIV-1 LTR promoter 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

  • MGC14458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II CTD heptapeptide repeat kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
cyclin-dependent protein serine/threonine kinase regulator activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
 
cellular response to ionomycin IEA
Inferred from Electronic Annotation
more info
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cellular response to phorbol 13-acetate 12-myristate IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of translation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
response to drug IEP
Inferred from Expression Pattern
more info
PubMed 
response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cyclin D2-CDK4 complex IEA
Inferred from Electronic Annotation
more info
 
cyclin-dependent protein kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cyclin-dependent kinase 4
Names
cell division protein kinase 4
NP_000066.1

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_007484.2 RefSeqGene

    Range
    4935..9655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_490

mRNA and Protein(s)

  1. NM_000075.4NP_000066.1  cyclin-dependent kinase 4

    See identical proteins and their annotated locations for NP_000066.1

    Status: REVIEWED

    Source sequence(s)
    AC025165, BC003644, BI832658, BQ773564
    Consensus CDS
    CCDS8953.1
    UniProtKB/Swiss-Prot
    P11802
    UniProtKB/TrEMBL
    A0A024RBB6
    Related
    ENSP00000257904.5, ENST00000257904.11
    Conserved Domains (1) summary
    cl21453
    Location:5295
    PKc_like; Protein Kinases, catalytic domain

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57747727..57752310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_052984.1: Suppressed sequence

    Description
    NM_052984.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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