MCM8
entrez
84515
canonical
uniprot
Q9UJA3
canonical
ensembl
ENSG00000125885
resolver
ensp
ENSP00000265187
resolver
ensp
ENSP00000368161
resolver
ensp
ENSP00000368164
resolver
ensp
ENSP00000368174
resolver
ensp
ENSP00000478141
resolver
genesymbol
MCM8
resolver
genesymbol_syn
C20orf154
resolver
hgnc
HGNC:16147
resolver
uniprot
B2RBG7
resolver
uniprot
B4DN82
resolver
uniprot
D3DW08
resolver
uniprot
E7EQU7
resolver
uniprot
Q495R4
resolver
uniprot
Q495R6
resolver
uniprot
Q495R7
resolver
uniprot
Q86US4
resolver
uniprot
Q969I5
resolver
uniprot_entry
B4DN82_HUMAN
resolver
uniprot_entry
MCM8_HUMAN
resolver
uniprot_sec
B2RBG7
resolver
uniprot_sec
D3DW08
resolver
uniprot_sec
E7EQU7
resolver
uniprot_sec
Q495R4
resolver
uniprot_sec
Q495R6
resolver
uniprot_sec
Q495R7
resolver
uniprot_sec
Q86US4
resolver
uniprot_sec
Q969I5
resolver
activity_regulation
ACTIVITY REGULATION: The helicase reaction is stimulated by the C-terminal domain of HROB; binding of HROB changes the conformation of the complex. {ECO:0000269|PubMed:37535404}.
uniprot
proteins
amino_acid_sequence
MNGEYRGRGFGRGRFQSWKRGRGGGNFSGKWREREHRPDLSKTTGKRTSEQTPQFLLSTKTPQSMQSTLDRFIPYKGWKLYFSEVYSDSSPLIEKIQAFEKFFTRHIDLYDKDEIERKGSILVDFKELTEGGEVTNLIPDIATELRDAPEKTLACMGLAIHQVLTKDLERHAAELQAQEGLSNDGETMVNVPHIHARVYNYEPLTQLKNVRANYYGKYIALRGTVVRVSNIKPLCTKMAFLCAACGEIQSFPLPDGKYSLPTKCPVPVCRGRSFTALRSSPLTVTMDWQSIKIQELMSDDQREAGRIPRTIECELVHDLVDSCVPGDTVTITGIVKVSNAEEGSRNKNDKCMFLLYIEANSISNSKGQKTKSSEDGCKHGMLMEFSLKDLYAIQEIQAEENLFKLIVNSLCPVIFGHELVKAGLALALFGGSQKYADDKNRIPIRGDPHILVVGDPGLGKSQMLQAACNVAPRGVYVCGNTTTTSGLTVTLSKDSSSGDFALEAGALVLGDQGICGIDEFDKMGNQHQALLEAMEQQSISLAKAGVVCSLPARTSIIAAANPVGGHYNKAKTVSENLKMGSALLSRFDLVFILLDTPNEHHDHLLSEHVIAIRAGKQRTISSATVARMNSQDSNTSVLEVVSEKPLSERLKVVPGETIDPIPHQLLRKYIGYARQYVYPRLSTEAARVLQDFYLELRKQSQRLNSSPITTRQLESLIRLTEARARLELREEATKEDAEDIVEIMKYSMLGTYSDEFGNLDFERSQHGSGMSNRSTAKRFISALNNVAERTYNNIFQFHQLRQIAKELNIQVADFENFIGSLNDQGYLLKKGPKVYQLQTM
uniprot
proteins
disease_involvement
DISEASE: Premature ovarian failure 10 (POF10) [MIM:612885]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:25437880}. 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). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). May play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Facilitates somatic mitochondrial (mt)DNA recombination (PubMed:36355348). Plays a key role during gametogenesis, probably by regulating HR (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093). {ECO:0000250|UniProtKB:Q9CWV1, ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:36355348, ECO:0000269|PubMed:37309874}.
uniprot
proteins
mass_dalton
93697
uniprot
proteins
mutagenesis
MUTAGEN 295; /note="E->R: No change in MCM8-MCM9 helicase activity."; /evidence="ECO:0000269|PubMed:37535404"; MUTAGEN 345..350; /note="Missing: Decreased MCM8-MCM9 helicase activity."; /evidence="ECO:0000269|PubMed:37535404"; MUTAGEN 369..377; /note="Missing: Linker reduction, loss of MCM8-MCM9 helicase activity."; /evidence="ECO:0000269|PubMed:37535404"; MUTAGEN 456; /note="P->A: Decreases the formation of MRE11 and RPA1 foci in response to cisplatin-induced DNA damage."; /evidence="ECO:0000269|PubMed:26215093
uniprot
proteins
protein_family
MCM family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12527764
uniprot
proteins
pubmed
12771218
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15684404
uniprot
proteins
pubmed
16325355
uniprot
proteins
pubmed
18072282
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23401855
uniprot
proteins
pubmed
25437880
uniprot
proteins
pubmed
26215093
uniprot
proteins
pubmed
26300262
uniprot
proteins
pubmed
31467087
uniprot
proteins
pubmed
34043945
uniprot
proteins
pubmed
36355348
uniprot
proteins
pubmed
37309874
uniprot
proteins
pubmed
37535404
uniprot
proteins
sequence_length
840
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12527764, ECO:0000269|PubMed:18072282, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26300262, ECO:0000269|PubMed:36355348}. Chromosome {ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093}. Cytoplasm {ECO:0000269|PubMed:36355348}. Mitochondrion matrix {ECO:0000269|PubMed:36355348}. Note=Localizes to nuclear foci (PubMed:26215093). Localizes to double-stranded DNA breaks (PubMed:23401855). Binds chromatin throughout the cell cycle (PubMed:15684404). Colocalizes with mitochondrial DNA (PubMed:36355348). {ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:36355348}.
uniprot
proteins