• Gene id: 902

Gene Summary

• Gene Symbol: CCNH   Gene   UCSC   Ensembl
• Aliases: CAK, CycH, p34, p37
• Gene name: cyclin H
• Alternate names: cyclin-H, CAK complex subunit, CDK-activating kinase complex subunit, MO15-associated protein, cyclin-dependent kinase-activating kinase complex subunit,
• Gene location: 5q14.3 (87413032: 87311470)     Exons: 11     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 601953

SNPs

rs2284922

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37381257G>A
NC_000006.11   g.37349033G>A
NM_003958.4   c.1344G>A
NM_003958.3   c.1344G>A
XM_006715241.3   c.1254G>A
XR_001743734.2   n.1641G>A
XR_001743731.2   n.1558G>A
NR_046399.1   n.1643G>A
NR_046399.2   n.1632G>A
XM_017011462.1   c.1173G>A|SEQ=[G/A

rs195434

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37392781T>C
NC_000006.11   g.37360557T>C
NM_003958.4   c.*2023T>C
NM_003958.3   c.*2023T>C
NM_183078.2   c.*1929T>C
NM_183078.3   c.*1929T>C
NR_046399.1   n.3780T>C
NR_046399.2   n.3769T>C|SEQ=[T/C]|GENE=RNF8

rs195432

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37390246A>C
NC_000006.12   g.37390246A>G
NC_000006.12   g.37390246A>T
NC_000006.11   g.37358022A>C
NC_000006.11   g.37358022A>G
NC_000006.11   g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8

rs104669

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37386283A>T
NC_000006.11   g.37354059A>T|SEQ=[A/T]|GENE=RNF8

Protein Summary

• Protein general information: P51946  
  • Name: Cyclin H (MO15 associated protein) (p34) (p37)
  • Length: 323  
  • Mass: 37643
• Sequence:

  MYHNSSQKRHWTFSSEEQLARLRADANRKFRCKAVANGKVLPNDPVFLEPHEEMTLCKYYEKRLLEFCSVFKPAM
  PRSVVGTACMYFKRFYLNNSVMEYHPRIIMLTCAFLACKVDEFNVSSPQFVGNLRESPLGQEKALEQILEYELLL
  IQQLNFHLIVHNPYRPFEGFLIDLKTRYPILENPEILRKTADDFLNRIALTDAYLLYTPSQIALTAILSSASRAG
  ITMESYLSESLMLKENRTCLSQLLDIMKSMRNLVKKYEPPRSEEVAVLKQKLERCHSAELALNVITKKRKGYEDD
  DYVSKKSKHEEEEWTDDDLVESL

• Structural information:
  • Interpro: IPR013763  IPR036915  IPR031658  IPR006671  IPR027081  
  • CDD: cd00043
  • PDB: 1JKW 1KXU 6O9L
  • PDBsum: 1JKW 1KXU 6O9L
  • DIP: 5996
  • STRING: ENSP00000256897
• Other Databases: GeneCards:  CCNH  Malacards:  CCNH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006367	transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0016251	RNA polymerase II general transcription initiation factor activity	IDA	contributes to
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IBA	molecular function
GO:0070816	phosphorylation of RNA polymerase II C-terminal domain	IBA	biological process
GO:0005675	transcription factor TFIIH holo complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008353	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA	contributes to
GO:0070985	transcription factor TFIIK complex	IBA	cellular component
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0005675	transcription factor TFIIH holo complex	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0070985	transcription factor TFIIK complex	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IMP	cellular component
GO:0050821	protein stabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000439	transcription factor TFIIH core complex	IDA	cellular component
GO:0000439	transcription factor TFIIH core complex	IDA	cellular component
GO:0070516	CAK-ERCC2 complex	IDA	cellular component
GO:0006366	transcription by RNA polymerase II	IDA	biological process
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0070516	CAK-ERCC2 complex	IDA	cellular component
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0070985	transcription factor TFIIK complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa03022	Basal transcription factors
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881