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Aliases for CCNH Gene

Aliases for CCNH Gene

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

External Ids for CCNH Gene

Previous GeneCards Identifiers for CCNH Gene

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

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 Fructose Intolerance. Among its related pathways are HIV Life Cycle and Nucleotide excision repair. GO annotations related to this gene include protein kinase binding and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CCNH Gene

Genomics for CCNH Gene

Regulatory Elements for CCNH Gene

Enhancers for CCNH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G087116 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +293.1 293061 7.0 HDGF CBX3 BMI1 ZBTB40 GATA2 CBX5 FOS RELB ETV6 IKZF2 CCNH GC05M087119 PIR58793
GH05G087386 0.7 dbSUPER 11.5 +25.1 25080 2.4 SCRT1 AGO1 OVOL3 FEZF1 ZNF843 PRDM6 GATA3 POLR2A SMARCA4 ZNF580 CCNH ENSG00000272367 LOC105379066
GH05G087383 0.7 dbSUPER 11.1 +28.1 28117 3.0 CTCF FOXA2 RAD21 GATA3 SMC3 GATAD2A ZNF654 FOXA3 TRIM22 CEBPB CCNH ENSG00000272367 LOC105379066
GH05G087323 0.5 FANTOM5 9.8 +89.5 89527 0.4 ZNF362 PBX2 MLLT1 SPI1 LINC01949 CCNH LOC644285 GC05M087300 RNU6-606P
GH05G087242 0.8 Ensembl ENCODE 4.4 +169.9 169874 2.1 JUND FOS ZNF518A SPI1 NFE2L2 CCNH LINC01949 RASA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCNH on UCSC Golden Path with GeneCards custom track

Promoters for CCNH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000183604 433 2400 HDGF PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766

Genomic Location for CCNH Gene

Chromosome:
5
Start:
87,391,493 bp from pter
End:
87,413,033 bp from pter
Size:
21,541 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

Other Protein References for CCNH Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CCNH (CCNH)

No data available for DME Specific Peptides for CCNH Gene

Domains & Families for CCNH Gene

Gene Families for CCNH Gene

Protein Domains for CCNH Gene

Suggested Antigen Peptide Sequences for CCNH Gene

GenScript: Design optimal peptide antigens:

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

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
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.

Gene Ontology (GO) - Molecular Function for CCNH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8521818
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
GO:0008353 contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA 9852112
GO:0016301 kinase activity IEA --
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IEA,IBA --
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

Clone Products

  • Addgene plasmids for CCNH
  • Applied Biological Materials Clones 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

Gene Ontology (GO) - Cellular Components for CCNH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 7936635
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex IDA 9852112
GO:0019907 cyclin-dependent protein kinase activating kinase holoenzyme complex IMP,IDA 23393140
GO:0070985 TFIIK complex IEA --
genes like me logo Genes that share ontologies with CCNH: view

Pathways & Interactions for CCNH Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
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

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: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 --
GO:0006351 transcription, DNA-templated IEA --
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

Unigene Clusters for CCNH Gene

Cyclin H:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CCNH
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
CCNH

Expression for CCNH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CCNH Gene



Protein tissue co-expression partners for CCNH Gene

NURSA nuclear receptor signaling pathways regulating expression of CCNH Gene:

CCNH

SOURCE GeneReport for Unigene cluster for CCNH Gene:

Hs.292524

Evidence on tissue expression from TISSUES for CCNH Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with CCNH: view

Primer Products

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 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 94 (a)
OneToMany
CCNH 34
  • 91.53 (n)
-- 35
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCNH 34 35
  • 92.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CCNH 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccnh 34 16 35
  • 89.89 (n)
rat
(Rattus norvegicus)
Mammalia Ccnh 34
  • 89.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCNH 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCNH 34 35
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia CCNH 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccnh 34
  • 69.76 (n)
Str.8233 34
African clawed frog
(Xenopus laevis)
Amphibia ccnh-A 34
zebrafish
(Danio rerio)
Actinopterygii ccnh 34 35
  • 65.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10544 34
fruit fly
(Drosophila melanogaster)
Insecta CycH 36 34 35
  • 53.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008417 34
  • 53.15 (n)
worm
(Caenorhabditis elegans)
Secernentea cyh-1 34 35
  • 45.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCL1 35 37
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons CYCH;1 34
  • 47.34 (n)
rice
(Oryza sativa)
Liliopsida Os03g0737600 34
  • 49.63 (n)
Species where no ortholog for CCNH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CCNH Gene

Pseudogenes.org Pseudogenes for CCNH Gene

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

No data available for Paralogs for CCNH Gene

Variants for CCNH Gene

Sequence variations from dbSNP and Humsavar for CCNH Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs137853214 Pathogenic 87,349,304(+) TCAGC(G/T)ATTTA intron-variant, reference, missense
rs137853215 Pathogenic 87,349,309(+) GATTT(A/G)AAATA intron-variant, reference, missense
rs137853216 Pathogenic 87,349,312(+) TTAAA(A/G)TATGT intron-variant, reference, missense
rs137853217 Pathogenic 87,369,821(+) AAACT(A/G)TTTTC intron-variant, reference, missense
rs137853218 Pathogenic 87,333,291(+) GTGTA(C/T)GAGCT intron-variant, reference, stop-gained

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)

Relevant External Links for CCNH Gene

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

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

Disorders for CCNH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fructose intolerance
  • fructose intolerance, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search CCNH in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCNH

Genetic Association Database (GAD)
CCNH
Human Genome Epidemiology (HuGE) Navigator
CCNH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCNH
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 2007) 3 22 46 64
  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 22 64
  3. The structure of cyclin H: common mode of kinase activation and specific features. (PMID: 9118957) Andersen G. … Moras D. (EMBO J. 1997) 3 4 22 64
  4. Three-dimensional structure of human cyclin H, a positive regulator of the CDK-activating kinase. (PMID: 8836101) Kim K.K. … Kim S.-H. (Nat. Struct. Biol. 1996) 3 4 22 64
  5. Cdk-activating kinase complex is a component of human transcription factor TFIIH. (PMID: 7533895) Shiekhattar R. … Reinberg D. (Nature 1995) 3 4 22 64

Products for CCNH Gene

  • Addgene plasmids for CCNH

Sources for CCNH Gene

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