• Gene id: 84515

Gene Summary

• Gene Symbol: MCM8   Gene   UCSC   Ensembl
• Aliases: C20orf154, POF10, dJ967N21.5
• Gene name: minichromosome maintenance 8 homologous recombination repair factor
• Alternate names: DNA helicase MCM8, DNA replication licensing factor MCM8, MCM8 minichromosome maintenance deficient 8, REC homolog, minichromosome maintenance complex component 8,
• Gene location: 20p12.3 (5950651: 6000940)     Exons: 21     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance prot
• OMIM: 608187

Protein Summary

• Protein general information: Q9UJA3  
  • Name: DNA helicase MCM8 (EC 3.6.4.12) (Minichromosome maintenance 8)
  • Length: 840  
  • Mass: 93697
  • Tissue specificity: Highest levels in placenta, lung and pancreas. Low levels in skeletal muscle and kidney. Expressed in various tumors with highest levels in colon and lung cancers. {ECO
• Sequence:

  MNGEYRGRGFGRGRFQSWKRGRGGGNFSGKWREREHRPDLSKTTGKRTSEQTPQFLLSTKTPQSMQSTLDRFIPY
  KGWKLYFSEVYSDSSPLIEKIQAFEKFFTRHIDLYDKDEIERKGSILVDFKELTEGGEVTNLIPDIATELRDAPE
  KTLACMGLAIHQVLTKDLERHAAELQAQEGLSNDGETMVNVPHIHARVYNYEPLTQLKNVRANYYGKYIALRGTV
  VRVSNIKPLCTKMAFLCAACGEIQSFPLPDGKYSLPTKCPVPVCRGRSFTALRSSPLTVTMDWQSIKIQELMSDD
  QREAGRIPRTIECELVHDLVDSCVPGDTVTITGIVKVSNAEEGSRNKNDKCMFLLYIEANSISNSKGQKTKSSED
  GCKHGMLMEFSLKDLYAIQEIQAEENLFKLIVNSLCPVIFGHELVKAGLALALFGGSQKYADDKNRIPIRGDPHI
  LVVGDPGLGKSQMLQAACNVAPRGVYVCGNTTTTSGLTVTLSKDSSSGDFALEAGALVLGDQGICGIDEFDKMGN
  QHQALLEAMEQQSISLAKAGVVCSLPARTSIIAAANPVGGHYNKAKTVSENLKMGSALLSRFDLVFILLDTPNEH
  HDHLLSEHVIAIRAGKQRTISSATVARMNSQDSNTSVLEVVSEKPLSERLKVVPGETIDPIPHQLLRKYIGYARQ
  YVYPRLSTEAARVLQDFYLELRKQSQRLNSSPITTRQLESLIRLTEARARLELREEATKEDAEDIVEIMKYSMLG
  TYSDEFGNLDFERSQHGSGMSNRSTAKRFISALNNVAERTYNNIFQFHQLRQIAKELNIQVADFENFIGSLNDQG
  YLLKKGPKVYQLQTM

• Structural information:
  • Protein Domains: (402..60-)
    (/note="MCM"-)
  • Interpro: IPR003593  IPR031327  IPR001208  IPR041562  IPR033762   IPR012340  IPR027417  
  • Prosite: PS50051
  • STRING: ENSP00000368164
• Other Databases: GeneCards:  MCM8  Malacards:  MCM8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003688	DNA replication origin binding	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0042555	MCM complex	IBA	cellular component
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0048232	male gamete generation	ISS	biological process
GO:0007292	female gamete generation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0000082	G1/S 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:0006260	DNA replication	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:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0032406	MutLbeta complex binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0032408	MutSbeta complex binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071168	protein localization to chromatin	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0050821	protein stabilization	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0036298	recombinational interstrand cross-link repair	IMP	biological process
GO:0006260	DNA replication	IGI	NOT|biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
Premature ovarian failure	KEGG:H00627
Premature ovarian failure	KEGG:H00627
Primary gonadal failure	MIK: 25873734
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25873734	Primary gonadal failure	c.1954-1G>A, c.1469-1470insTA		2 families	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray