CCNH (cyclin H)

Gene

• Entrez ID: 902
• Gene name: Cyclin H
• Gene symbol: CCNH
• Synonyms (NCBI Gene): CAK, CycH, p34, p37
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT035962	hsa-miR-1301-3p	CLASH	23622248

Gene ontology (GO)

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
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7936635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9852112
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	7533895, 8692841
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	7533895
GO:0016301	Function	Kinase activity	IEA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IEA
GO:0050821	Process	Protein stabilization	IMP	23393140
GO:0070516	Component	CAK-ERCC2 complex	IDA	8692841, 8692842
GO:0070985	Component	Transcription factor TFIIK complex	IBA
GO:0070985	Component	Transcription factor TFIIK complex	IDA	8692841
GO:0070985	Component	Transcription factor TFIIK complex	IEA
GO:0070985	Component	Transcription factor TFIIK complex	IMP	23393140
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	23622515

Other IDs

• MIM: 601953
• HGNC: 1594
• e!Ensembl: ENSG00000134480

Protein

• UniProt ID: 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

Pathways

KEGG:

Basal transcription factors
Nucleotide excision repair
Cell cycle

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
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

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
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL VENOUS ANOMALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMORRHAGIC TELANGIECTASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-TRENAUNAY-WEBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKES WEBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
Breast Neoplasms	Breast neoplasm	Pubtator	23393140, 30705370, 30947698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27301701	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	CLINVAR_DG	18446851, 23164092, 24038909, 26499346, 29120072		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1	Capillary Malformation-Arteriovenous Malformation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	16445666, 33777168	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12606953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	16445666	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17728339		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17210687, 17707548, 19294700		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19074885		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29277765		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15858123	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	1968791		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	17466625		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30872642		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	18400256		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	16445666	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25820824	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	20598140		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	20598140	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	30705370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15695176		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17684142		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17466625		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	16445666	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24947332		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28036384, 28976984, 30980864, 31164957		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	17707548		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33777168	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25820824	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	27301701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17210687, 17707548, 19294700		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24947332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24289586, 24615090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21062494		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17728339		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20598140, 28036384		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29277765		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8622863		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30651597		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19218339	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30214071	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30861523		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17210687, 9268294		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30705370	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	26961748	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24351404	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24351404	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29936608		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29936608		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24289586, 24615090		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25238935, 34417538	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	31211828		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21676483		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21062494		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35546566	Associate	★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	18077223		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	18077223, 28977422		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	16492920		★☆☆☆☆ Found in Text Mining only