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    CDK18 cyclin dependent kinase 18 [ Homo sapiens (human) ]

    Gene ID: 5129, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CDK18provided by HGNC
    Official Full Name
    cyclin dependent kinase 18provided by HGNC
    Primary source
    HGNC:HGNC:8751
    See related
    Ensembl:ENSG00000117266 MIM:169190; AllianceGenome:HGNC:8751
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCTK3; PCTAIRE; PCTAIRE3
    Summary
    Predicted to enable cyclin-dependent protein serine/threonine kinase activity. Involved in positive regulation of myelination. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 26.3), brain (RPKM 20.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDK18 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205504669..205532790)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204769067..204797187)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205473797..205501918)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LEMD1 divergent transcript Neighboring gene tRNA-Lys (TTT) 8-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205450402-205451002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205459961-205460612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205475721-205476374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205479231-205479778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205480776-205481390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205484536-205485236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205486639-205487338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205490554-205491379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205505565-205506066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1743 Neighboring gene Sharpr-MPRA regulatory region 5902 Neighboring gene MFSD4A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205538423-205538972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205538973-205539521 Neighboring gene RNA, U2 small nuclear 19, pseudogene Neighboring gene uncharacterized LOC124904491 Neighboring gene major facilitator superfamily domain containing 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205555399-205556189 Neighboring gene Sharpr-MPRA regulatory region 9898

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Human CDK18 promotes replication stress signaling and genome stability. Barone G, et al. Nucleic Acids Res, 2016 Oct 14. PMID 27382066, Free PMC Article
    2. Cyclin-dependent Kinase 18 Promotes Oligodendrocyte Precursor Cell Differentiation through Activating the Extracellular Signal-Regulated Kinase Signaling Pathway. Pan Y, et al. Neurosci Bull, 2019 Oct. PMID 31028571, Free PMC Article
    3. Cloning and expression analysis of two novel PCTAIRE 3 transcripts from human brain. Herskovits AZ, et al. Gene, 2004 Mar 17. PMID 15019984
    4. The regulation of tau phosphorylation by PCTAIRE 3: implications for the pathogenesis of Alzheimer's disease. Herskovits AZ, et al. Neurobiol Dis, 2006 Aug. PMID 16766195
    5. Potential role of PCTAIRE-2, PCTAIRE-3 and P-Histone H4 in amyloid precursor protein-dependent Alzheimer pathology. Chaput D, et al. Oncotarget, 2016 Feb 23. PMID 26885753, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.
      Title: Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.
    2. Cyclin-Dependent Kinase 18 Controls Trafficking of Aquaporin-2 and Its Abundance through Ubiquitin Ligase STUB1, Which Functions as an AKAP.
      Title: Cyclin-Dependent Kinase 18 Controls Trafficking of Aquaporin-2 and Its Abundance through Ubiquitin Ligase STUB1, Which Functions as an AKAP.
    3. CDK18 knockdown or ATR inhibition in glioblastoma stem-like cells suppressed homologous recombination.
      Title: Myc targeted CDK18 promotes ATR and homologous recombination to mediate PARP inhibitor resistance in glioblastoma.
    4. these data reveal a rate-limiting role for CDK18 in replication stress signalling and establish it as a novel regulator of genome integrity.
      Title: Human CDK18 promotes replication stress signaling and genome stability.
    5. Increased levels of PCTAIRE3 is associated with Alzheimer's disease.
      Title: Potential role of PCTAIRE-2, PCTAIRE-3 and P-Histone H4 in amyloid precursor protein-dependent Alzheimer pathology.
    6. PCTAIRE 3 is aassociated kinase that modulates tau phosphorylation in Alzeheimer's disease.
      Title: The regulation of tau phosphorylation by PCTAIRE 3: implications for the pathogenesis of Alzheimer's disease.
    7. Expression of PCTAIRE 3a (474 amino acids) was evident throughout the brain and in the majority of tissues analyzed, while spliced isoform PCTAIRE 3b (504 amino acids) was limited to several subcortical nuclei of the basal gangli and the spinal cord.
      Title: Cloning and expression analysis of two novel PCTAIRE 3 transcripts from human brain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of cyclin-dependent kinase 18 (CDK18) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of myelination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell cycle phase transition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cyclin-dependent kinase 18
    Names
    PCTAIRE protein kinase 3
    PCTAIRE-motif protein kinase 3
    cell division protein kinase 18
    serine/threonine-protein kinase PCTAIRE-3
    NP_002587.2
    NP_997667.1
    NP_997668.1
    XP_011507904.2
    XP_016856912.2
    XP_047278158.1
    XP_047278159.1
    XP_047278163.1
    XP_047278165.1
    XP_047278166.1
    XP_047278168.1
    XP_054192892.1
    XP_054192893.1
    XP_054192894.1
    XP_054192895.1
    XP_054192896.1
    XP_054192897.1
    XP_054192898.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_002596.4 → NP_002587.2  cyclin-dependent kinase 18 isoform b

      See identical proteins and their annotated locations for NP_002587.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AL357131, KF455139
      Consensus CDS
      CCDS44300.1
      UniProtKB/Swiss-Prot
      Q07002, Q5VXQ2, Q6V3A2, Q6V3A3, Q96F90
      UniProtKB/TrEMBL
      B4DK03
      Related
      ENSP00000353176.2, ENST00000360066.6
      Conserved Domains (1) summary
      cd07871
      Location:138 → 425
      STKc_PCTAIRE3; Catalytic domain of the Serine/Threonine Kinase, PCTAIRE-3 kinase

    2. NM_212502.3 → NP_997667.1  cyclin-dependent kinase 18 isoform b

      See identical proteins and their annotated locations for NP_997667.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in a coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AB209307, AY353237, BM695474
      Consensus CDS
      CCDS44300.1
      UniProtKB/Swiss-Prot
      Q07002, Q5VXQ2, Q6V3A2, Q6V3A3, Q96F90
      UniProtKB/TrEMBL
      B4DK03
      Related
      ENSP00000399082.2, ENST00000429964.7
      Conserved Domains (1) summary
      cd07871
      Location:138 → 425
      STKc_PCTAIRE3; Catalytic domain of the Serine/Threonine Kinase, PCTAIRE-3 kinase

    3. NM_212503.3 → NP_997668.1  cyclin-dependent kinase 18 isoform a

      See identical proteins and their annotated locations for NP_997668.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL357131, KF455139
      Consensus CDS
      CCDS1454.1
      UniProtKB/TrEMBL
      B4DK03
      Related
      ENSP00000423665.1, ENST00000506784.5
      Conserved Domains (2) summary
      PLN00009
      Location:171 → 459
      PLN00009; cyclin-dependent kinase A; Provisional
      cd07871
      Location:168 → 455
      STKc_PCTAIRE3; Catalytic domain of the Serine/Threonine Kinase, PCTAIRE-3 kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205504669..205532790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422207.1 → XP_047278163.1  cyclin-dependent kinase 18 isoform X1

    2. XM_047422212.1 → XP_047278168.1  cyclin-dependent kinase 18 isoform X3

    3. XM_017001423.3 → XP_016856912.2  cyclin-dependent kinase 18 isoform X2

    4. XM_011509602.4 → XP_011507904.2  cyclin-dependent kinase 18 isoform X4

      UniProtKB/Swiss-Prot
      Q07002, Q5VXQ2, Q6V3A2, Q6V3A3, Q96F90

    5. XM_047422209.1 → XP_047278165.1  cyclin-dependent kinase 18 isoform X1

    6. XM_047422210.1 → XP_047278166.1  cyclin-dependent kinase 18 isoform X1

    7. XM_047422202.1 → XP_047278158.1  cyclin-dependent kinase 18 isoform X1

    8. XM_047422203.1 → XP_047278159.1  cyclin-dependent kinase 18 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204769067..204797187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336921.1 → XP_054192896.1  cyclin-dependent kinase 18 isoform X1

    2. XM_054336923.1 → XP_054192898.1  cyclin-dependent kinase 18 isoform X3

    3. XM_054336917.1 → XP_054192892.1  cyclin-dependent kinase 18 isoform X5

    4. XM_054336919.1 → XP_054192894.1  cyclin-dependent kinase 18 isoform X7

    5. XM_054336918.1 → XP_054192893.1  cyclin-dependent kinase 18 isoform X6

    6. XM_054336920.1 → XP_054192895.1  cyclin-dependent kinase 18 isoform X8

    7. XM_054336922.1 → XP_054192897.1  cyclin-dependent kinase 18 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07002.4 GenPept UniProtKB/Swiss-Prot:Q07002

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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