MCM9
entrez
254394
canonical
uniprot
Q9NXL9
canonical
ensembl
ENSG00000111877
resolver
ensp
ENSP00000312870
resolver
ensp
ENSP00000314505
resolver
ensp
ENSP00000480469
resolver
ensp
ENSP00000632984
resolver
ensp
ENSP00000653766
resolver
ensp
ENSP00000689368
resolver
ensp
ENSP00000782415
resolver
ensp
ENSP00000782416
resolver
genesymbol
MCM9
resolver
genesymbol_syn
C6orf61
resolver
genesymbol_syn
MCMDC1
resolver
hgnc
HGNC:21484
resolver
uniprot
A0A0S2Z662
resolver
uniprot
B4DR30
resolver
uniprot
B9DI77
resolver
uniprot
Q2KHJ0
resolver
uniprot
Q8N5S5
resolver
uniprot
Q9HCV5
resolver
uniprot_entry
A0A0S2Z662_HUMAN
resolver
uniprot_entry
MCM9_HUMAN
resolver
uniprot_sec
B4DR30
resolver
uniprot_sec
B9DI77
resolver
uniprot_sec
Q2KHJ0
resolver
uniprot_sec
Q8N5S5
resolver
uniprot_sec
Q9HCV5
resolver
activity_regulation
ACTIVITY REGULATION: The helicase reaction is stimulated by the C-terminal domain of HROB, binding of which changes the conformation of the complex. {ECO:0000269|PubMed:37535404}.
uniprot
proteins
amino_acid_sequence
MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNMFPSEVLTIFDSALRRSALTILQSLSQPEAVSMKQNLHARISGLPVCPELVREHIPKTKDVGHFLSVTGTVIRTSLVKVLEFERDYMCNKCKHVFVIKADFEQYYTFCRPSSCPSLESCDSSKFTCLSGLSSSPTRCRDYQEIKIQEQVQRLSVGSIPRSMKVILEDDLVDSCKSGDDLTIYGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPFAGRNVILASLCPQVFGMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQFLKYAAKITPRSVLTTGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLKEHDRTSIHEAMEQQTISVAKAGLVCKLNTRTTILAATNPKGQYDPQESVSVNIALGSPLLSRFDLILVLLDTKNEDWDRIISSFILENKGYPSKSEKLWSMEKMKTYFCLIRNLQPTLSDVGNQVLLRYYQMQRQSDCRNAARTTIRLLESLIRLAEAHARLMFRDTVTLEDAITVVSVMESSMQGGALLGGVNALHTSFPENPGEQYQRQCELILEKLELQSLLSEELRRLERLQNQSVHQSQPRVLEVETTPGSLRNGPGEESNFRTSSQQEINYSTHIFSPGGSPEGSPVLDPPPHLEPNRSTSRKHSAQHKNNRDDSLDWFDFMATHQSEPKNTVVVSPHPKTSGENMASKISNSTSQGKEKSEPGQRSKVDIGLLPSPGETGVPWRADNVESNKKKRLALDSEAAVSADKPDSVLTHHVPRNLQKLCKERAQKLCRNSTRVPAQCTVPSHPQSTPVHSPDRMLDSPKRKRPKSLAQVEEPAIENVKPPGSPVAKLAKFTFKQKSKLIHSFEDHSHVSPGATKIAVHSPKISQRRTRRDAALPVKRPGKLTSTPGNQISSQPQGETKEVSQQPPEKHGPREKVMCAPEKRIIQPELELGNETGCAHLTCEGDKKEEVSGSNKSGKVHACTLARLANFCFTPPSESKSKSPPPERKNRGERGPSSPPTTTAPMRVSKRKSFQLRGSTEKLIVSKESLFTLPELGDEAFDCDWDEEMRKKS
uniprot
proteins
disease_involvement
DISEASE: Ovarian dysgenesis 4 (ODG4) [MIM:616185]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition. {ECO:0000269|PubMed:25480036}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.2.4
uniprot
proteins
function
FUNCTION: Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). The MCM8-MCM9 complex is a 3'-5' DNA helicase and single-stranded (ss)DNA-stimulated ATPase which binds ssDNA in the presence of nucleoside triphosphates (PubMed:37309874). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs, probably by regulating the localization of the MNR complex (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Plays a key role during gametogenesis, probably by regulating HR (By similarity). {ECO:0000250|UniProtKB:Q2KHI9, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26300262, ECO:0000269|PubMed:37309874}.
uniprot
proteins
mass_dalton
127313
uniprot
proteins
mutagenesis
MUTAGEN 252..254; /note="QQD->AAA: Significantly decreased MCM8-MCM9 helicase activity."; /evidence="ECO:0000269|PubMed:37535404"; MUTAGEN 283..287; /note="Missing: Linker reduction, loss of MCM8-MCM9 helicase activity."; /evidence="ECO:0000269|PubMed:37535404"; MUTAGEN 358; /note="K->A: Loss of helicase activity and DNA mismatch repair function but does not affect the interaction with MCM8, MSH2 or chromatin; when associated with A-482."; /evidence="ECO:0000269|PubMed:26300262"; MUTAGEN 482; /note="R->A: Loss of helicase activity and DNA mismatch repair function but does not affect the interaction with MCM8, MSH2 or chromatin; when associated with A-358."; /evidence="ECO:0000269|PubMed:26300262
uniprot
proteins
protein_family
MCM family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16226853
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23401855
uniprot
proteins
pubmed
23403237
uniprot
proteins
pubmed
25480036
uniprot
proteins
pubmed
26215093
uniprot
proteins
pubmed
26300262
uniprot
proteins
pubmed
31467087
uniprot
proteins
pubmed
34043945
uniprot
proteins
pubmed
37309874
uniprot
proteins
pubmed
37535404
uniprot
proteins
sequence_length
1143
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}. Chromosome {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}. Note=Colocalizes to nuclear foci with RPA1 following DNA damage (PubMed:23401855). Localizes to double-stranded DNA breaks (PubMed:23401855). Recruited to chromatin by MSH2 (PubMed:26300262). {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}.
uniprot
proteins