MCM5
entrez
4174
canonical
uniprot
P33992
canonical
ensembl
ENSG00000100297
resolver
ensp
ENSP00000216122
resolver
ensp
ENSP00000580027
resolver
ensp
ENSP00000587610
resolver
ensp
ENSP00000792858
resolver
enst
ENST00000216122
resolver
enst
ENST00000909968
resolver
enst
ENST00000917551
resolver
genesymbol
MCM5
resolver
genesymbol_syn
CDC46
resolver
hgnc
HGNC:6948
resolver
uniprot
B1AHB0
resolver
uniprot
O60785
resolver
uniprot
Q14578
resolver
uniprot
Q9BTJ4
resolver
uniprot
Q9BWL8
resolver
uniprot_entry
B1AHB0_HUMAN
resolver
uniprot_entry
MCM5_HUMAN
resolver
uniprot_sec
O60785
resolver
uniprot_sec
Q14578
resolver
uniprot_sec
Q9BTJ4
resolver
uniprot_sec
Q9BWL8
resolver
amino_acid_sequence
MSGFDDPGIFYSDSFGGDAQADEGQARKSQLQRRFKEFLRQYRVGTDRTGFTFKYRDELKRHYNLGEYWIEVEMEDLASFDEDLADYLYKQPAEHLQLLEEAAKEVADEVTRPRPSGEEVLQDIQVMLKSDASPSSIRSLKSDMMSHLVKIPGIIIAASAVRAKATRISIQCRSCRNTLTNIAMRPGLEGYALPRKCNTDQAGRPKCPLDPYFIMPDKCKCVDFQTLKLQELPDAVPHGEMPRHMQLYCDRYLCDKVVPGNRVTIMGIYSIKKFGLTTSRGRDRVGVGIRSSYIRVLGIQVDTDGSGRSFAGAVSPQEEEEFRRLAALPNVYEVISKSIAPSIFGGTDMKKAIACLLFGGSRKRLPDGLTRRGDINLLMLGDPGTAKSQLLKFVEKCSPIGVYTSGKGSSAAGLTASVMRDPSSRNFIMEGGAMVLADGGVVCIDEFDKMREDDRVAIHEAMEQQTISIAKAGITTTLNSRCSVLAAANSVFGRWDETKGEDNIDFMPTILSRFDMIFIVKDEHNEERDVMLAKHVITLHVSALTQTQAVEGEIDLAKLKKFIAYCRVKCGPRLSAEAAEKLKNRYIIMRSGARQHERDSDRRSSIPITVRQLEAIVRIAEALSKMKLQPFATEADVEEALRLFQVSTLDAALSGTLSGVEGFTSQEDQEMLSRIEKQLKRRFAIGSQVSEHSIIKDFTKQKYPEHAIHKVLQLMLRRGEIQHRMQRKVLYRLK
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564]: A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS8 inheritance is autosomal recessive. {ECO:0000269|PubMed:28198391}. 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 (PubMed:40940420). 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:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232). 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:32453425). {ECO:0000269|PubMed:16899510, ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232, ECO:0000269|PubMed:40940420}.
uniprot
proteins
mass_dalton
82286
uniprot
proteins
mutagenesis
MUTAGEN 583; /note="K->R: Destabilizes the helicase complex, delaying origin firing and slowing replication fork progression."; /evidence="ECO:0000269|PubMed:40940420
uniprot
proteins
post_translational_modification
PTM: UFMylated at Lys-583; UFMylation occurs at the ongoing replication fork and promotes the CMG replicative DNA helicase complex formation. {ECO:0000269|PubMed:40940420}.
uniprot
proteins
protein_family
MCM family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16899510
uniprot
proteins
pubmed
17296731
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23711367
uniprot
proteins
pubmed
26527279
uniprot
proteins
pubmed
28198391
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
40940420
uniprot
proteins
pubmed
8265339
uniprot
proteins
sequence_length
734
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:35585232}. Chromosome {ECO:0000269|PubMed:40940420, 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