The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cycli... See more...

Aliases for CCNH Gene

Aliases for CCNH Gene

  • Cyclin H 2 3 5
  • MO15-Associated Protein 2 3 4
  • P34 2 3 4
  • P37 2 3 4
  • Cyclin-Dependent Kinase-Activating Kinase Complex Subunit 2 3
  • CDK-Activating Kinase Complex Subunit 2 3
  • CAK Complex Subunit 2 3
  • Cyclin-H 3 4
  • CycH 2 3
  • CCNH 5
  • CAK 3

External Ids for CCNH Gene

Previous GeneCards Identifiers for CCNH Gene

  • GC05M085615
  • GC05M086902
  • GC05M086728
  • GC05M086774
  • GC05M086771
  • GC05M086725
  • GC05M086690
  • GC05M081894
  • GC05M087377

Summaries for CCNH Gene

Entrez Gene Summary for CCNH Gene

  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]

GeneCards Summary for CCNH Gene

CCNH (Cyclin H) is a Protein Coding gene. Diseases associated with CCNH include Capillary Malformation-Arteriovenous Malformation 1 and Parkes Weber Syndrome. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Cyclin A/B1 associated events during G2/M transition. Gene Ontology (GO) annotations related to this gene include protein kinase binding and DNA-dependent ATPase activity. An important paralog of this gene is CCNT2.

UniProtKB/Swiss-Prot Summary for CCNH Gene

  • Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle.

Gene Wiki entry for CCNH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCNH Gene

Genomics for CCNH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCNH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J087410 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.8 798 3.5 BRCA1 ARHGAP35 SP1 CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 CCNH ENSG00000285190 LOC105379066 lnc-TMEM161B-14 lnc-RASA1-27 lnc-TMEM161B-16 RASA1
GH05J087113 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +291.9 291932 17 RFX1 LEF1 JUND STAT3 RELA IKZF2 TRIM22 DPF2 GABPA SOX6 LOC101929380 lnc-CCNH-5 CCNH MIR4280 MIR4280HG RASA1 ENSG00000249061 COX7C
GH05J087321 Enhancer 0.8 FANTOM5 Ensembl 9.8 +86.6 86632 9.6 PRDM10 OSR2 MAFF USF1 MAFK PRDM6 GLIS1 ZNF362 ZNF384 USF2 LINC01949 MIR4280HG CCNH LOC644285 MN298200 RASA1
GH05J087385 Enhancer 0.6 Ensembl dbSUPER 11.1 +27.1 27132 0.2 GATAD2A CEBPA FOXA2 FOXA3 CEBPB CCNH lnc-TMEM161B-16 ENSG00000285190 RASA1
GH05J087392 Enhancer 0.5 Ensembl dbSUPER 12.4 +22.0 22032 0.4 ZNF316 MAFK CCNH lnc-TMEM161B-16 ENSG00000285190 RASA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCNH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCNH

Top Transcription factor binding sites by QIAGEN in the CCNH gene promoter:
  • aMEF-2
  • AML1a
  • HOXA9B
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • SRF
  • SRF (504 AA)
  • STAT5A

Genomic Locations for CCNH Gene

Genomic Locations for CCNH Gene
chr5:87,311,471-87,413,033
(GRCh38/hg38)
Size:
101,563 bases
Orientation:
Minus strand
chr5:86,687,311-86,708,850
(GRCh37/hg19)
Size:
21,540 bases
Orientation:
Minus strand

Genomic View for CCNH Gene

Genes around CCNH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCNH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCNH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCNH Gene

Proteins for CCNH Gene

  • Protein details for CCNH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51946-CCNH_HUMAN
    Recommended name:
    Cyclin-H
    Protein Accession:
    P51946
    Secondary Accessions:
    • Q53X72
    • Q8TBL9

    Protein attributes for CCNH Gene

    Size:
    323 amino acids
    Molecular mass:
    37643 Da
    Quaternary structure:
    • Associates primarily with CDK7 and MAT1 to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor.

    Three dimensional structures from OCA and Proteopedia for CCNH Gene

neXtProt entry for CCNH Gene

Post-translational modifications for CCNH Gene

  • Ubiquitination at Lys72
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CCNH Gene

Domains & Families for CCNH Gene

Gene Families for CCNH Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for CCNH Gene

Suggested Antigen Peptide Sequences for CCNH Gene

GenScript: Design optimal peptide antigens:
  • p37 (CCNH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51946

UniProtKB/Swiss-Prot:

CCNH_HUMAN :
  • Belongs to the cyclin family. Cyclin C subfamily.
Family:
  • Belongs to the cyclin family. Cyclin C subfamily.
genes like me logo Genes that share domains with CCNH: view

Function for CCNH Gene

Molecular function for CCNH Gene

UniProtKB/Swiss-Prot Function:
Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle.
GENATLAS Biochemistry:
cyclin H,37kDa,component of CDK activating kinase (CAK1),forming a ternary complex with CDK7 and MNAT1 (see symbols),associating in the multisubunit complex TFIIH (GTF2H),putatively involved in cell cycle control,transcription,DNA repair

Phenotypes From GWAS Catalog for CCNH Gene

Gene Ontology (GO) - Molecular Function for CCNH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8521818
GO:0008094 DNA-dependent ATPase activity IDA --
GO:0008353 contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IBA 21873635
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CCNH: view
genes like me logo Genes that share phenotypes with CCNH: view

Animal Model Products

CRISPR Products

miRNA for CCNH Gene

miRTarBase miRNAs that target CCNH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCNH

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCNH Gene

Localization for CCNH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCNH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCNH gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCNH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005675 transcription factor TFIIH holo complex IBA,IDA 9852112
GO:0019907 cyclin-dependent protein kinase activating kinase holoenzyme complex IDA,IMP 23393140
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with CCNH: view

Pathways & Interactions for CCNH Gene

PathCards logo

SuperPathways for CCNH Gene

SuperPathway Contained pathways
1 HIV Transcription Elongation
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
.33
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with CCNH: view

Pathways by source for CCNH Gene

2 GeneGo (Thomson Reuters) pathways for CCNH Gene
  • Cell cycle Regulation of G1/S transition (part 2)
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
4 Qiagen pathways for CCNH Gene
  • Breast Cancer Regulation by Stathmin1
  • Cyclins and Cell Cycle Regulation
  • Pancreatic Adenocarcinoma
  • Salmonella Infection
1 Cell Signaling Technology pathway for CCNH Gene
1 GeneTex pathway for CCNH Gene

SIGNOR curated interactions for CCNH Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CCNH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IEA,IBA 21873635
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
genes like me logo Genes that share ontologies with CCNH: view

Drugs & Compounds for CCNH Gene

(4) Drugs for CCNH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CCNH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CCNH: view

Transcripts for CCNH Gene

mRNA/cDNA for CCNH Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCNH

Alternative Splicing Database (ASD) splice patterns (SP) for CCNH Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8: - - - -
SP9: -
SP10: - - - - - - - - - - - - - - -

Relevant External Links for CCNH Gene

GeneLoc Exon Structure for
CCNH

Expression for CCNH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCNH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCNH Gene

This gene is overexpressed in Liver (42.2) and Breast (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCNH Gene



Protein tissue co-expression partners for CCNH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCNH

SOURCE GeneReport for Unigene cluster for CCNH Gene:

Hs.292524

Evidence on tissue expression from TISSUES for CCNH Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Bone marrow(4.4)
  • Lung(2.6)
  • Intestine(2.6)
  • Skin(2.5)
  • Kidney(2.4)
  • Blood(2.1)
  • Lymph node(2.1)
  • Thyroid gland(2.1)
  • Muscle(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CCNH: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCNH Gene

Orthologs for CCNH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCNH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCNH 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 94 (a)
OneToMany
CCNH 30
  • 91.53 (n)
-- 31
  • 89 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CCNH 30 31
  • 92.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCNH 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccnh 30 17 31
  • 89.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccnh 30
  • 89.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CCNH 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCNH 30 31
  • 75.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCNH 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccnh 30
  • 69.76 (n)
Str.8233 30
African clawed frog
(Xenopus laevis)
Amphibia ccnh-A 30
Zebrafish
(Danio rerio)
Actinopterygii ccnh 30 31
  • 65.3 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10544 30
Fruit Fly
(Drosophila melanogaster)
Insecta CycH 30 31 32
  • 53.94 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008417 30
  • 53.15 (n)
Worm
(Caenorhabditis elegans)
Secernentea cyh-1 30 31
  • 45.96 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCL1 31 33
  • 23 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYCH;1 30
  • 47.34 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0737600 30
  • 49.63 (n)
Species where no ortholog for CCNH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CCNH Gene

ENSEMBL:
Gene Tree for CCNH (if available)
TreeFam:
Gene Tree for CCNH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCNH: view image

Paralogs for CCNH Gene

Paralogs for CCNH Gene

Pseudogenes.org Pseudogenes for CCNH Gene

genes like me logo Genes that share paralogs with CCNH: view

Variants for CCNH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCNH Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
16002 Pathogenic: Capillary malformation-arteriovenous malformation 1 87,333,258(-) G/A INTRON_VARIANT
16003 Pathogenic: Capillary malformation-arteriovenous malformation 1 87,376,947(-) C/CTACT FRAMESHIFT_VARIANT,INTRON_VARIANT
639566 Uncertain Significance: Capillary malformation-arteriovenous malformation 1 87,389,409(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
640189 Uncertain Significance: Capillary malformation-arteriovenous malformation 1 87,374,160(-) T/A INTRON_VARIANT
640881 Uncertain Significance: Capillary malformation-arteriovenous malformation 1 87,379,851(-) G/GT SPLICE_DONOR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CCNH Gene

Structural Variations from Database of Genomic Variants (DGV) for CCNH Gene

Variant ID Type Subtype PubMed ID
nsv830379 CNV gain 17160897

Variation tolerance for CCNH Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.52; 82.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCNH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCNH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCNH Gene

Disorders for CCNH Gene

MalaCards: The human disease database

(10) MalaCards diseases for CCNH Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CCNH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCNH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CCNH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCNH Gene

Publications for CCNH Gene

  1. Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population. (PMID: 17707548) Li Y … Lu D (Lung cancer (Amsterdam, Netherlands) 2007) 3 23 41
  2. Mapping of the human genes encoding cyclin H (CCNH) and the CDK-activating kinase (CAK) assembly factor MAT1 (MNAT1) to chromosome bands 5q13.3-q14 and 14q23, respectively. (PMID: 9465303) Eki T … Hanaoka F (Genomics 1998) 2 3 23
  3. The structure of cyclin H: common mode of kinase activation and specific features. (PMID: 9118957) Andersen G … Moras D (The EMBO journal 1997) 3 4 23
  4. Three-dimensional structure of human cyclin H, a positive regulator of the CDK-activating kinase. (PMID: 8836101) Kim KK … Kim SH (Nature structural biology 1996) 3 4 23
  5. Cdk-activating kinase complex is a component of human transcription factor TFIIH. (PMID: 7533895) Shiekhattar R … Reinberg D (Nature 1995) 3 4 23

Products for CCNH Gene

  • Signalway Proteins for CCNH

Sources for CCNH Gene