CCNK cyclin K [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCNKprovided by HGNC
Official Full Name: cyclin Kprovided by HGNC
Primary source: HGNC:HGNC:1596
See related: Ensembl:ENSG00000090061 MIM:603544; AllianceGenome:HGNC:1596
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: CPR4; IDDHDF
Summary: The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 33.7), testis (RPKM 31.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (99481409..99512440)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (93712952..93744005)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (99947746..99978777)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
Title: CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
CYCLIN K down-regulation induces androgen receptor gene intronic polyadenylation, variant expression and PARP inhibitor vulnerability in castration-resistant prostate cancer.
Title: CYCLIN K down-regulation induces androgen receptor gene intronic polyadenylation, variant expression and PARP inhibitor vulnerability in castration-resistant prostate cancer.
HIV-1 Nef interacts with the cyclin K/CDK13 complex to antagonize SERINC5 for optimal viral infectivity.
Title: HIV-1 Nef interacts with the cyclin K/CDK13 complex to antagonize SERINC5 for optimal viral infectivity.
Degradation of CCNK/CDK12 is a druggable vulnerability of colorectal cancer.
Title: Degradation of CCNK/CDK12 is a druggable vulnerability of colorectal cancer.
Cyclin K interacts with beta-catenin to induce Cyclin D1 expression and facilitates tumorigenesis and radioresistance in lung cancer.
Title: Cyclin K interacts with β-catenin to induce Cyclin D1 expression and facilitates tumorigenesis and radioresistance in lung cancer.
Facial characteristics caused by CCNK variations, possibly through a mechanism of haploinsufficiency.
Title: De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
SETD1A and cyclin K complexes may represent a therapeutic opportunity for acute myeloid leukemia and, potentially, for other cancers.
Title: A Non-catalytic Function of SETD1A Regulates Cyclin K and the DNA Damage Response.
Cyclin K expression positively correlates with cell proliferation; knockdown of cyclin K or its cognate kinase CDK12 prevents the assembly of prereplicative complex in the G1 cell cycle phase.
Title: Cyclin K regulates prereplicative complex assembly to promote mammalian cell proliferation.
Cyclin K regulates prereplicative complex assembly to promote mammalian cell proliferation
Title: Cyclin K regulates prereplicative complex assembly to promote mammalian cell proliferation.
Structures of CDK12/CycK complexes solved in the presence of AMP-PNP.
Title: Structures of the CDK12/CycK complex with AMP-PNP reveal a flexible C-terminal kinase extension important for ATP binding.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Associated conditions

Description	Tests
Intellectual developmental disorder with hypertelorism and distinctive facies MedGen: C4748381 OMIM: 618147 GeneReviews: Not available	not available

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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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef induces cyclin K interaction with CDK9, which contributes to inhibit CDK9 nuclear translocation	PubMed
	nef	Cyclin K physically interacts with HIV-1 Nef. Box 1 domain (residues 1-151) of cyclin K are necessary for its inhibitory activity on LTR-driven gene expression and virus production in a Nef-dependent manner	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

G32976 (e-PCR)
- UniSTS:117553

G35001 (e-PCR)
- UniSTS:74842

RH69937 (e-PCR)
- UniSTS:41343

CCNK_1614.3 (e-PCR)
- UniSTS:280478

A009Y14 (e-PCR)
- UniSTS:17351

RH1621 (e-PCR)
- UniSTS:74469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II CTD heptapeptide repeat kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cyclin-dependent protein serine/threonine kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info
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 kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in negative regulation by host of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription, elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
involved_in regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of cyclin K-CDK12 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of cyclin K-CDK13 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of cyclin/CDK positive transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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Preferred Names: cyclin-K

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)

NM_001099402.2 → NP_001092872.1 cyclin-K

See identical proteins and their annotated locations for NP_001092872.1

Status: REVIEWED

Source sequence(s)

AL110504, BG503760, BM505592, BQ432222, BX247958

Consensus CDS

CCDS45160.1

UniProtKB/Swiss-Prot

O75909, Q59FT6, Q86U16, Q96B63, Q9NNY9

Related

ENSP00000374529.5, ENST00000389879.9

Conserved Domains (2) summary

cd20530
Location:40 → 154

CYCLIN_CCNK_rpt1; first cyclin box found in cyclin-K (CCNK) and similar proteins

cd20531
Location:158 → 258

CYCLIN_CCNK_rpt2; second cyclin box found in cyclin-K (CCNK) and similar proteins

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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

99481409..99512440

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431839.1 → XP_047287795.1 cyclin-K isoform X1

UniProtKB/Swiss-Prot

O75909, Q59FT6, Q86U16, Q96B63, Q9NNY9
XM_005268154.5 → XP_005268211.1 cyclin-K isoform X1

See identical proteins and their annotated locations for XP_005268211.1

UniProtKB/Swiss-Prot

O75909, Q59FT6, Q86U16, Q96B63, Q9NNY9

Conserved Domains (2) summary

cd20530
Location:40 → 154

CYCLIN_CCNK_rpt1; first cyclin box found in cyclin-K (CCNK) and similar proteins

cd20531
Location:158 → 258

CYCLIN_CCNK_rpt2; second cyclin box found in cyclin-K (CCNK) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

93712952..93744005

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376862.1 → XP_054232837.1 cyclin-K isoform X1

UniProtKB/Swiss-Prot

O75909, Q59FT6, Q86U16, Q96B63, Q9NNY9
XM_054376863.1 → XP_054232838.1 cyclin-K isoform X1

UniProtKB/Swiss-Prot

O75909, Q59FT6, Q86U16, Q96B63, Q9NNY9

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_003858.3: Suppressed sequence

Description

NM_003858.3: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.