• Gene id: 254394

Gene Summary

• Gene Symbol: MCM9   Gene   UCSC   Ensembl
• Aliases: C6orf61, MCMDC1, ODG4, dJ329L24.1, dJ329L24.3
• Gene name: minichromosome maintenance 9 homologous recombination repair factor
• Alternate names: DNA helicase MCM9, DNA replication licensing factor MCM9, mini-chromosome maintenance deficient domain-containing protein 1, minichromosome maintenance complex component 9,
• Gene location: 6q22.31 (151357591: 151380045)     Exons: 6     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recr
• OMIM: 610098

Protein Summary

• Protein general information: Q9NXL9  
  • Name: DNA helicase MCM9 (hMCM9) (EC 3.6.4.12) (Mini chromosome maintenance deficient domain containing protein 1) (Minichromosome maintenance 9)
  • Length: 1143  
  • Mass: 127313
• Sequence:

  MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNMFPSEVLTIFDSALRR
  SALTILQSLSQPEAVSMKQNLHARISGLPVCPELVREHIPKTKDVGHFLSVTGTVIRTSLVKVLEFERDYMCNKC
  KHVFVIKADFEQYYTFCRPSSCPSLESCDSSKFTCLSGLSSSPTRCRDYQEIKIQEQVQRLSVGSIPRSMKVILE
  DDLVDSCKSGDDLTIYGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPF
  AGRNVILASLCPQVFGMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQFLKYAAKITPRSVLT
  TGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLKEHDRTSIHEAMEQQTISVAKAGLVCKLNTR
  TTILAATNPKGQYDPQESVSVNIALGSPLLSRFDLILVLLDTKNEDWDRIISSFILENKGYPSKSEKLWSMEKMK
  TYFCLIRNLQPTLSDVGNQVLLRYYQMQRQSDCRNAARTTIRLLESLIRLAEAHARLMFRDTVTLEDAITVVSVM
  ESSMQGGALLGGVNALHTSFPENPGEQYQRQCELILEKLELQSLLSEELRRLERLQNQSVHQSQPRVLEVETTPG
  SLRNGPGEESNFRTSSQQEINYSTHIFSPGGSPEGSPVLDPPPHLEPNRSTSRKHSAQHKNNRDDSLDWFDFMAT
  HQSEPKNTVVVSPHPKTSGENMASKISNSTSQGKEKSEPGQRSKVDIGLLPSPGETGVPWRADNVESNKKKRLAL
  DSEAAVSADKPDSVLTHHVPRNLQKLCKERAQKLCRNSTRVPAQCTVPSHPQSTPVHSPDRMLDSPKRKRPKSLA
  QVEEPAIENVKPPGSPVAKLAKFTFKQKSKLIHSFEDHSHVSPGATKIAVHSPKISQRRTRRDAALPVKRPGKLT
  STPGNQISSQPQGETKEVSQQPPEKHGPREKVMCAPEKRIIQPELELGNETGCAHLTCEGDKKEEVSGSNKSGKV
  HACTLARLANFCFTPPSESKSKSPPPERKNRGERGPSSPPTTTAPMRVSKRKSFQLRGSTEKLIVSKESLFTLPE
  LGDEAFDCDWDEEMRKKS

• Structural information:
  • Protein Domains: (300..50-)
    (/note="MCM-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR003593  IPR031327  IPR001208  IPR041562  IPR033762   IPR012340  IPR027417  
  • Prosite: PS50051
  • STRING: ENSP00000314505
• Other Databases: GeneCards:  MCM9  Malacards:  MCM9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003688	DNA replication origin binding	IBA	molecular function
GO:0042555	MCM complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0007292	female gamete generation	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0007276	gamete generation	IEA	biological process
GO:0036298	recombinational interstrand cross-link repair	IEA	biological process
GO:0097362	MCM8-MCM9 complex	IEA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007292	female gamete generation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0097362	MCM8-MCM9 complex	IDA	cellular component
GO:0003682	chromatin 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:0032406	MutLbeta complex binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0032408	MutSbeta complex binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071168	protein localization to chromatin	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070716	mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	IMP	biological process
GO:0036298	recombinational interstrand cross-link repair	IMP	biological process
GO:0006260	DNA replication	IGI	NOT|biological process
GO:0032508	DNA duplex unwinding	IMP	biological process
GO:0003678	DNA helicase activity	IMP	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071168	protein localization to chromatin	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
46,XX gonadal dysgenesis	KEGG:H00599
46,XX gonadal dysgenesis	KEGG:H00599
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)