MCM4 (minichromosome maintenance complex component 4)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4173 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Minichromosome maintenance complex component 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MCM4 |
SynonymsGene synonyms aliases
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CDC21, CDC54, IMD54, NKCD, NKGCD, P1-CDC21, hCdc21 |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q11.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of t |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
MYCN |
Activation |
17826980 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000082 |
Process |
G1/S transition of mitotic cell cycle |
TAS |
|
GO:0000727 |
Process |
Double-strand break repair via break-induced replication |
IBA |
21873635 |
GO:0000781 |
Component |
Chromosome, telomeric region |
HDA |
19135898 |
GO:0003678 |
Function |
DNA helicase activity |
IDA |
9305914 |
GO:0003688 |
Function |
DNA replication origin binding |
IBA |
21873635 |
GO:0003697 |
Function |
Single-stranded DNA binding |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
12364596, 15232106, 16902406, 17296731, 22190034, 22540012, 23764002, 24299456, 24407287, 25036637, 28514442 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
NAS |
8265339 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
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GO:0005654 |
Component |
Nucleoplasm |
TAS |
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GO:0006260 |
Process |
DNA replication |
NAS |
9465298 |
GO:0006260 |
Process |
DNA replication |
TAS |
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GO:0006267 |
Process |
Pre-replicative complex assembly involved in nuclear cell cycle DNA replication |
IBA |
21873635 |
GO:0006268 |
Process |
DNA unwinding involved in DNA replication |
IBA |
21873635 |
GO:0006271 |
Process |
DNA strand elongation involved in DNA replication |
IBA |
21873635 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0042555 |
Component |
MCM complex |
IBA |
21873635 |
GO:0042555 |
Component |
MCM complex |
IDA |
17296731 |
GO:0071162 |
Component |
CMG complex |
ISS |
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GO:1902975 |
Process |
Mitotic DNA replication initiation |
IBA |
21873635 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P33991 |
Protein name |
DNA replication licensing factor MCM4 (EC 3.6.4.12) (CDC21 homolog) (P1-CDC21) |
Protein 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 mol |
PDB |
6XTX
,
6XTY
,
7PFO
,
7PLO
,
7W1Y
,
7W68
,
8B9D
,
8RWV
,
8S09
,
8S0A
,
8S0B
,
8S0D
,
8S0E
,
8S0F
,
8W0E
,
8W0F
,
8W0G
,
8W0I
,
9CAQ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF14551 |
MCM_N |
163 → 264 |
MCM N-terminal domain |
Domain |
PF17207 |
MCM_OB |
270 → 398 |
MCM OB domain |
Domain |
PF00493 |
MCM |
445 → 670 |
MCM P-loop domain |
Domain |
PF17855 |
MCM_lid |
685 → 769 |
MCM AAA-lid domain |
Domain |
|
Sequence |
|
Sequence length |
863 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
rs1563829725 |
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Lymphoproliferative disorder |
Lymphoproliferative Disorders |
rs121908191, rs398122933, rs397514667, rs397514260, rs397514261, rs748418658, rs781593353 |
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Microcephaly |
Microcephaly |
rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Adrenal hypoplasia, x-linked |
X-linked Adrenal Hypoplasia |
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22354170 |
Natural killer cell and glucocorticoid deficiency with dna repair defect |
Natural Killer Cell Deficiency, Familial Isolated |
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22354170, 22405088, 16532402 |
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