MCM4
entrez
4173
canonical
uniprot
P33991
canonical
ensembl
ENSG00000104738
resolver
ensp
ENSP00000262105
resolver
ensp
ENSP00000496964
resolver
enst
ENST00000262105
resolver
enst
ENST00000649973
resolver
genesymbol
MCM4
resolver
genesymbol_syn
CDC21
resolver
hgnc
HGNC:6947
resolver
uniprot
B3KMX0
resolver
uniprot
B4DLA6
resolver
uniprot
Q8NEH1
resolver
uniprot
Q99658
resolver
uniprot_entry
B3KMX0_HUMAN
resolver
uniprot_entry
B4DLA6_HUMAN
resolver
uniprot_entry
MCM4_HUMAN
resolver
uniprot_sec
Q8NEH1
resolver
uniprot_sec
Q99658
resolver
amino_acid_sequence
MSSPASTPSRRGSRRGRATPAQTPRSEDARSSPSQRRRGEDSTSTGELQPMPTSPGVDLQSPAAQDVLFSSPPQMHSSAIPLDFDVSSPLTYGTPSSRVEGTPRSGVRGTPVRQRPDLGSAQKGLQVDLQSDGAAAEDIVASEQSLGQKLVIWGTDVNVAACKENFQRFLQRFIDPLAKEEENVGIDITEPLYMQRLGEINVIGEPFLNVNCEHIKSFDKNLYRQLISYPQEVIPTFDMAVNEIFFDRYPDSILEHQIQVRPFNALKTKNMRNLNPEDIDQLITISGMVIRTSQLIPEMQEAFFQCQVCAHTTRVEMDRGRIAEPSVCGRCHTTHSMALIHNRSLFSDKQMIKLQESPEDMPAGQTPHTVILFAHNDLVDKVQPGDRVNVTGIYRAVPIRVNPRVSNVKSVYKTHIDVIHYRKTDAKRLHGLDEEAEQKLFSEKRVELLKELSRKPDIYERLASALAPSIYEHEDIKKGILLQLFGGTRKDFSHTGRGKFRAEINILLCGDPGTSKSQLLQYVYNLVPRGQYTSGKGSSAVGLTAYVMKDPETRQLVLQTGALVLSDNGICCIDEFDKMNESTRSVLHEVMEQQTLSIAKAGIICQLNARTSVLAAANPIESQWNPKKTTIENIQLPHTLLSRFDLIFLLLDPQDEAYDRRLAHHLVALYYQSEEQAEEELLDMAVLKDYIAYAHSTIMPRLSEEASQALIEAYVDMRKIGSSRGMVSAYPRQLESLIRLAEAHAKVRLSNKVEAIDVEEAKRLHREALKQSATDPRTGIVDISILTTGMSATSRKRKEELAEALKKLILSKGKTPALKYQQLFEDIRGQSDIAITKDMFEEALRALADDDFLTVTGKTVRLL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 54 (IMD54) [MIM:609981]: An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. {ECO:0000269|PubMed:22354167, ECO:0000269|PubMed:22354170, ECO:0000269|PubMed:22499342}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.12
uniprot
proteins
function
FUNCTION: Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:16899510, PubMed:25661590, PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232, PubMed:9305914). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:16899510, PubMed:25661590, PubMed:32453425, PubMed:9305914). {ECO:0000269|PubMed:16899510, ECO:0000269|PubMed:25661590, ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232, ECO:0000269|PubMed:9305914}.
uniprot
proteins
mass_dalton
96558
uniprot
proteins
mutagenesis
MUTAGEN 364; /note="G->R: Reduced MCM complex DNA helicase activity. No effect on MCM complex formation. No effect on MCM complex ssDNA binding and ATPase activity."; /evidence="ECO:0000269|PubMed:25661590
uniprot
proteins
post_translational_modification
PTM: Sumoylated; SUMO2 modified in response to stress caused by inhibition of proteasome activity (in vitro). {ECO:0000250|UniProtKB:P49717}.
uniprot
proteins
protein_family
MCM family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16899510
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17296731
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22354167
uniprot
proteins
pubmed
22354170
uniprot
proteins
pubmed
22499342
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25661590
uniprot
proteins
pubmed
27401717
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
7601140
uniprot
proteins
pubmed
8265339
uniprot
proteins
pubmed
9284934
uniprot
proteins
pubmed
9305914
uniprot
proteins
pubmed
9465298
uniprot
proteins
sequence_length
863
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:35585232}. Chromosome {ECO:0000305|PubMed:35585232}. Note=Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses. {ECO:0000305|PubMed:35585232}.
uniprot
proteins