CCNH (cyclin H)

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Gene Gene information from NCBI Gene database.
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Entrez ID 902
Gene name Cyclin H
Gene symbol CCNH
Synonyms (NCBI Gene)
CAKCycHp34p37
Chromosome 5
Chromosome location 5q14.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT035962 hsa-miR-1301-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27 Show/Hide all (27)
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GO ID Ontology Definition Evidence Reference
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IDA 23622515
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IEA
GO:0000439 Component Transcription factor TFIIH core complex IDA 8692841, 8692842
GO:0001673 Component Male germ cell nucleus IEA
GO:0005515 Function Protein binding IPI 8521818, 9840943, 16189514, 16769902, 21516116, 21988832, 23393140, 25416956, 26496610, 27880917, 28514442, 29892012, 31515488, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
601953 1594 ENSG00000134480
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51946
Protein name Cyclin-H (MO15-associated protein) (p34) (p37)
Protein 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 f
PDB 1JKW , 1KXU , 6O9L , 6XBZ , 6XD3 , 7B5O , 7B5Q , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 8BVW , 8BYQ , 8GXQ , 8GXS , 8ORM , 8P6V , 8P6W , 8P6X , 8P6Y , 8P6Z , 8P70 , 8P71 , 8P72 , 8P73 , 8P74 , 8P75 , 8P76 , 8P77 , 8P78 , 8P79 , 8PLZ , 8PYR , 8S0R , 8S0T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00134 Cyclin_N 31 → 159 Cyclin, N-terminal domain Domain
PF16899 Cyclin_C_2 162 → 260 Cyclin C-terminal domain Domain
Sequence 
MYHNSSQKRHWTFSSEEQLARLRADANRKFRCKAVANGKVLPNDPVFLEPHEEMTLCKYY
EKRLLEFCSVFKPAMPRSVVGTACMYFKRFYLNNSVMEYHPRIIMLTCAFLACKVDEFNV
SSPQFVGNLRESPLGQEKALEQILEYELLLIQQLNFHLIVHNPYRPFEGFLIDLKTRYPI
LENPEILRKTADDFLNRIALTDAYLLYTPSQIALTAILSSASRAGITMESYLSESLMLKE
NRTCLSQLLDIMKSMRNLVKKYEPPRSEEVAVLKQKLERCHSAELALNVITKKRKGYEDD
DYVSKKSKHEEEEWTDDDLVESL
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Basal transcription factors Formation of RNA Pol II elongation complex
Nucleotide excision repair Formation of the Early Elongation Complex
Cell cycle Formation of Incision Complex in GG-NER
  RNA Polymerase II Pre-transcription Events
  Formation of TC-NER Pre-Incision Complex
  Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  Dual incision in TC-NER
  Gap-filling DNA repair synthesis and ligation in TC-NER
  TP53 Regulates Transcription of DNA Repair Genes
  Cyclin E associated events during G1/S transition
  Cyclin D associated events in G1
  Cyclin A/B1/B2 associated events during G2/M transition
  Cyclin A:Cdk2-associated events at S phase entry
  mRNA Capping
  RNA Polymerase I Transcription Initiation
  RNA Polymerase I Promoter Escape
  RNA Polymerase II Promoter Escape
  RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  RNA Polymerase I Transcription Termination
  RNA Polymerase II Transcription Initiation
  RNA Polymerase II Transcription Elongation
  RNA Polymerase II Transcription Initiation And Promoter Clearance
  RNA Pol II CTD phosphorylation and interaction with CE
  RUNX1 regulates transcription of genes involved in differentiation of HSCs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
BREAST NEOPLASMS — CTD 30705370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA — CTD 12606953
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD 30705370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (92)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 17684142
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 9268294
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12606953
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 28924235 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 8735493
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma LHGDN 18400256
★★★★★
★☆☆☆☆
Found in Text Mining only
BASAL CELL CARCINOMA, SOMATIC Carcinoma, Somatic CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 17728339
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27301701
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 30705370
★★★★★
★☆☆☆☆
Found in Text Mining only
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TRMT11 6 shared diseasesOvarian neoplasms, Non-small-cell lung carcinoma, Colonic neoplasms, Esophageal neoplasms, Liver neoplasms, Lymphatic metastasis 7 shared evidence sourcesCTD (Non-small-cell lung carcinoma), CTD (Colonic neoplasms), CTD (Esophageal neoplasms), CTD (Glioblastoma), CTD (Liver neoplasms), CTD (Lymphatic metastasis), CTD (Ovarian neoplasms) Related via 6 shared diseases including Ovarian neoplasms, Non-small-cell lung carcinoma — evidence mostly CTD. RASA1 7 shared diseasesCapillary malformation-arteriovenous malformation, Carcinoma, Developmental venous anomaly, Hereditary hemorrhagic telangiectasia, Hydrops fetalis, Klippel-trenaunay syndrome, Parkes weber syndrome 7 shared evidence sourcesDisgenet (Capillary malformation-arteriovenous malformation), CTD (Carcinoma), Disgenet (Developmental venous anomaly), Disgenet (Hereditary hemorrhagic telangiectasia), Disgenet (Hydrops fetalis), Disgenet (Klippel-trenaunay syndrome), Disgenet (Parkes weber syndrome) Related via 7 shared diseases including Capillary malformation-arteriovenous malformation, Carcinoma — evidence mostly Disgenet. TP53BP1 4 shared diseasesOvarian neoplasms, Non-small-cell lung carcinoma, Colonic neoplasms, Lymphatic metastasis 5 shared evidence sourcesCTD (Non-small-cell lung carcinoma), CTD (Colonic neoplasms), CTD (Glioblastoma), CTD (Lymphatic metastasis), CTD (Ovarian neoplasms) Related via 4 shared diseases including Ovarian neoplasms, Non-small-cell lung carcinoma — evidence mostly CTD. CDK7 27 shared pathwaysBasal transcription factors, Nucleotide excision repair, Cell cycle, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, Formation of Incision Complex in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER) +15 more Related via 27 shared pathways including Basal transcription factors, Nucleotide excision repair. MNAT1 26 shared pathwaysBasal transcription factors, Nucleotide excision repair, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, Formation of Incision Complex in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER +14 more Related via 26 shared pathways including Basal transcription factors, Nucleotide excision repair.
Squamous cell carcinoma Linked via 2 of 5 related genesRASA1, TP53BP1 Prostate cancer Linked via 2 of 5 related genesRASA1, MNAT1 Diabetes mellitus type 2 Linked via 2 of 5 related genesRASA1, MNAT1 Androgenetic alopecia Linked via 1 of 5 related genesTRMT11 Arteriovenous hemangioma Linked via 1 of 5 related genesRASA1