UniProtKB - Q9UJA3 (MCM8_HUMAN)
DNA helicase MCM8
MCM8
Functioni
Caution
Catalytic activityi
- EC:3.6.4.121 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 454 – 461 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- chromatin binding Source: UniProtKB
- DNA helicase activity Source: UniProtKB-EC
- DNA replication origin binding Source: GO_Central
- enzyme binding Source: UniProtKB
- MutLbeta complex binding Source: UniProtKB
- MutSalpha complex binding Source: UniProtKB
- MutSbeta complex binding Source: UniProtKB
- single-stranded DNA binding Source: GO_Central
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- DNA replication Source: Reactome
- double-strand break repair via homologous recombination Source: UniProtKB
- female gamete generation Source: UniProtKB
- G1/S transition of mitotic cell cycle Source: Reactome
- male gamete generation Source: UniProtKB
- protein localization to chromatin Source: UniProtKB
- protein stabilization Source: UniProtKB
- recombinational interstrand cross-link repair Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Helicase, Hydrolase |
Biological process | Cell cycle, DNA damage, DNA repair, DNA replication |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9UJA3 |
Reactomei | R-HSA-113507, E2F-enabled inhibition of pre-replication complex formation R-HSA-176187, Activation of ATR in response to replication stress R-HSA-176974, Unwinding of DNA R-HSA-68689, CDC6 association with the ORC:origin complex R-HSA-68827, CDT1 association with the CDC6:ORC:origin complex R-HSA-68867, Assembly of the pre-replicative complex R-HSA-68949, Orc1 removal from chromatin R-HSA-68962, Activation of the pre-replicative complex |
Names & Taxonomyi
Protein namesi | Recommended name: DNA helicase MCM8 (EC:3.6.4.121 Publication)Alternative name(s): Minichromosome maintenance 8 |
Gene namesi | Name:MCM8 Synonyms:C20orf154 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000125885.13 |
HGNCi | HGNC:16147, MCM8 |
MIMi | 608187, gene |
neXtProti | NX_Q9UJA3 |
Subcellular locationi
Nucleus
- Nucleus 5 Publications
Other locations
- Chromosome 3 Publications
Note: Localizes to nuclear foci (PubMed:26215093). Localizes to double-stranded DNA breaks (PubMed:23401855). Binds chromatin throughout the cell cycle (PubMed:15684404).3 Publications
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromosome Source: UniProtKB-SubCell
- MCM complex Source: GO_Central
- MCM8-MCM9 complex Source: UniProtKB
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Involvement in diseasei
Premature ovarian failure 10 (POF10)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073417 | 149 | P → R in POF10; inhibits protein recruitment to sites of DNA damage; shows significant reduction in DNA-binding affinity for single-strand DNA. 1 PublicationCorresponds to variant dbSNP:rs606231343EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 456 | P → A: Decreases the formation of MRE11 and RPA1 foci in response to cisplatin-induced DNA damage. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Premature ovarian failureOrganism-specific databases
DisGeNETi | 84515 |
MalaCardsi | MCM8 |
MIMi | 612885, phenotype |
OpenTargetsi | ENSG00000125885 |
Orphaneti | 619, NON RARE IN EUROPE: Primary ovarian failure |
PharmGKBi | PA25696 |
Miscellaneous databases
Pharosi | Q9UJA3, Tbio |
Polymorphism and mutation databases
BioMutai | MCM8 |
DMDMi | 27805609 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000194125 | 1 – 840 | DNA helicase MCM8Add BLAST | 840 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 630 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q9UJA3 |
MassIVEi | Q9UJA3 |
PaxDbi | Q9UJA3 |
PeptideAtlasi | Q9UJA3 |
PRIDEi | Q9UJA3 |
ProteomicsDBi | 17650 84610 [Q9UJA3-1] 84611 [Q9UJA3-2] 84612 [Q9UJA3-3] |
PTM databases
iPTMneti | Q9UJA3 |
PhosphoSitePlusi | Q9UJA3 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000125885, Expressed in testis and 204 other tissues |
Genevisiblei | Q9UJA3, HS |
Organism-specific databases
HPAi | ENSG00000125885, Low tissue specificity |
Interactioni
Subunit structurei
Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9 (PubMed:23401855, PubMed:26300262).
Interacts with the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262).
Interacts with RAD51; the interaction recruits RAD51 to DNA damage sites (PubMed:23401855).
Interacts with the MRN complex composed of MRE11, RAD50 and NBN/NBS1 (PubMed:26215093).
Interacts with CDC6 and ORC2 (PubMed:15684404).
Interacts with HROB; the interaction recruits the MCM8-MCM9 complex to DNA damage sites (PubMed:31467087).
5 PublicationsBinary interactionsi
Hide detailsQ9UJA3
With | #Exp. | IntAct |
---|---|---|
MCMBP [Q9BTE3] | 3 | EBI-8756095,EBI-749378 |
Isoform 4 [Q9UJA3-4]
With | #Exp. | IntAct |
---|---|---|
FEM1C [Q96JP0] | 3 | EBI-13052514,EBI-2515330 |
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 124109, 38 interactors |
CORUMi | Q9UJA3 |
IntActi | Q9UJA3, 23 interactors |
MINTi | Q9UJA3 |
STRINGi | 9606.ENSP00000368164 |
Miscellaneous databases
RNActi | Q9UJA3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9UJA3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 402 – 609 | MCMAdd BLAST | 208 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 481 – 490 | Thr-rich | 10 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0480, Eukaryota |
GeneTreei | ENSGT01010000222249 |
HOGENOMi | CLU_000995_7_2_1 |
InParanoidi | Q9UJA3 |
OMAi | SNRSQAK |
OrthoDBi | 266497at2759 |
PhylomeDBi | Q9UJA3 |
TreeFami | TF323155 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR031327, MCM IPR001208, MCM_dom IPR041562, MCM_lid IPR033762, MCM_OB IPR012340, NA-bd_OB-fold IPR027417, P-loop_NTPase |
PANTHERi | PTHR11630, PTHR11630, 1 hit |
Pfami | View protein in Pfam PF00493, MCM, 1 hit PF17855, MCM_lid, 1 hit PF17207, MCM_OB, 1 hit |
PRINTSi | PR01657, MCMFAMILY |
SMARTi | View protein in SMART SM00382, AAA, 1 hit SM00350, MCM, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50051, MCM_2, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE
60 70 80 90 100
QTPQFLLSTK TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE
110 120 130 140 150
KFFTRHIDLY DKDEIERKGS ILVDFKELTE GGEVTNLIPD IATELRDAPE
160 170 180 190 200
KTLACMGLAI HQVLTKDLER HAAELQAQEG LSNDGETMVN VPHIHARVYN
210 220 230 240 250
YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF LCAACGEIQS
260 270 280 290 300
FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
310 320 330 340 350
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK
360 370 380 390 400
CMFLLYIEAN SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE
410 420 430 440 450
NLFKLIVNSL CPVIFGHELV KAGLALALFG GSQKYADDKN RIPIRGDPHI
460 470 480 490 500
LVVGDPGLGK SQMLQAACNV APRGVYVCGN TTTTSGLTVT LSKDSSSGDF
510 520 530 540 550
ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS LAKAGVVCSL
560 570 580 590 600
PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
610 620 630 640 650
HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL
660 670 680 690 700
KVVPGETIDP IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS
710 720 730 740 750
QRLNSSPITT RQLESLIRLT EARARLELRE EATKEDAEDI VEIMKYSMLG
760 770 780 790 800
TYSDEFGNLD FERSQHGSGM SNRSTAKRFI SALNNVAERT YNNIFQFHQL
810 820 830 840
RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM
The sequence of this isoform differs from the canonical sequence as follows:
342-357: Missing.
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 590 | V → A in AAI01056 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 788 | E → G in AAI01055 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015145 | 63 | Q → K. Corresponds to variant dbSNP:rs236110Ensembl. | 1 | |
Natural variantiVAR_050281 | 101 | K → N. Corresponds to variant dbSNP:rs6117014Ensembl. | 1 | |
Natural variantiVAR_073417 | 149 | P → R in POF10; inhibits protein recruitment to sites of DNA damage; shows significant reduction in DNA-binding affinity for single-strand DNA. 1 PublicationCorresponds to variant dbSNP:rs606231343EnsemblClinVar. | 1 | |
Natural variantiVAR_050282 | 183 | N → S. Corresponds to variant dbSNP:rs16991591EnsemblClinVar. | 1 | |
Natural variantiVAR_050283 | 341 | E → K Decreases the formation of MRE11 and RPA1 foci in response to cisplatin-induced DNA damage. 1 PublicationCorresponds to variant dbSNP:rs16991615Ensembl. | 1 | |
Natural variantiVAR_050284 | 365 | S → N. Corresponds to variant dbSNP:rs28403619Ensembl. | 1 | |
Natural variantiVAR_050285 | 785 | N → S. Corresponds to variant dbSNP:rs16991638Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041308 | 342 – 357 | Missing in isoform 3. CuratedAdd BLAST | 16 | |
Alternative sequenceiVSP_044179 | 408 – 418 | NSLCPVIFGHE → KWSLALSPRLEYSGAISAHC NLHLPSSNSSPTSACRVAGT TGMRHQTQLLL in isoform 4. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_015785 | 419 – 465 | Missing in isoform 2. 1 PublicationAdd BLAST | 47 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ439063 mRNA Translation: CAD27750.1 AY158211 mRNA Translation: AAO21222.1 AK027644 mRNA Translation: BAB55260.1 Different initiation. AK314654 mRNA Translation: BAG37214.1 AL035461 Genomic DNA No translation available. CH471133 Genomic DNA Translation: EAX10403.1 CH471133 Genomic DNA Translation: EAX10404.1 BC008830 mRNA Translation: AAH08830.2 BC080656 mRNA Translation: AAH80656.1 BC101054 mRNA Translation: AAI01055.1 BC101055 mRNA Translation: AAI01056.1 BC101056 mRNA Translation: AAI01057.1 BC101057 mRNA Translation: AAI01058.1 |
CCDSi | CCDS13094.1 [Q9UJA3-1] CCDS13095.1 [Q9UJA3-3] CCDS63226.1 [Q9UJA3-2] CCDS63227.1 [Q9UJA3-4] |
RefSeqi | NP_001268449.1, NM_001281520.1 [Q9UJA3-1] NP_001268450.1, NM_001281521.1 [Q9UJA3-4] NP_001268451.1, NM_001281522.1 [Q9UJA3-2] NP_115874.3, NM_032485.5 [Q9UJA3-1] NP_877954.1, NM_182802.2 [Q9UJA3-3] XP_016883594.1, XM_017028105.1 [Q9UJA3-4] |
Genome annotation databases
Ensembli | ENST00000265187; ENSP00000265187; ENSG00000125885 [Q9UJA3-3] ENST00000378883; ENSP00000368161; ENSG00000125885 [Q9UJA3-2] ENST00000378886; ENSP00000368164; ENSG00000125885 [Q9UJA3-4] ENST00000378896; ENSP00000368174; ENSG00000125885 [Q9UJA3-1] ENST00000610722; ENSP00000478141; ENSG00000125885 [Q9UJA3-1] |
GeneIDi | 84515 |
KEGGi | hsa:84515 |
UCSCi | uc002wmi.5, human [Q9UJA3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ439063 mRNA Translation: CAD27750.1 AY158211 mRNA Translation: AAO21222.1 AK027644 mRNA Translation: BAB55260.1 Different initiation. AK314654 mRNA Translation: BAG37214.1 AL035461 Genomic DNA No translation available. CH471133 Genomic DNA Translation: EAX10403.1 CH471133 Genomic DNA Translation: EAX10404.1 BC008830 mRNA Translation: AAH08830.2 BC080656 mRNA Translation: AAH80656.1 BC101054 mRNA Translation: AAI01055.1 BC101055 mRNA Translation: AAI01056.1 BC101056 mRNA Translation: AAI01057.1 BC101057 mRNA Translation: AAI01058.1 |
CCDSi | CCDS13094.1 [Q9UJA3-1] CCDS13095.1 [Q9UJA3-3] CCDS63226.1 [Q9UJA3-2] CCDS63227.1 [Q9UJA3-4] |
RefSeqi | NP_001268449.1, NM_001281520.1 [Q9UJA3-1] NP_001268450.1, NM_001281521.1 [Q9UJA3-4] NP_001268451.1, NM_001281522.1 [Q9UJA3-2] NP_115874.3, NM_032485.5 [Q9UJA3-1] NP_877954.1, NM_182802.2 [Q9UJA3-3] XP_016883594.1, XM_017028105.1 [Q9UJA3-4] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6L0O | X-ray | 1.21 | A | 770-840 | [»] | |
SMRi | Q9UJA3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124109, 38 interactors |
CORUMi | Q9UJA3 |
IntActi | Q9UJA3, 23 interactors |
MINTi | Q9UJA3 |
STRINGi | 9606.ENSP00000368164 |
PTM databases
iPTMneti | Q9UJA3 |
PhosphoSitePlusi | Q9UJA3 |
Polymorphism and mutation databases
BioMutai | MCM8 |
DMDMi | 27805609 |
Proteomic databases
jPOSTi | Q9UJA3 |
MassIVEi | Q9UJA3 |
PaxDbi | Q9UJA3 |
PeptideAtlasi | Q9UJA3 |
PRIDEi | Q9UJA3 |
ProteomicsDBi | 17650 84610 [Q9UJA3-1] 84611 [Q9UJA3-2] 84612 [Q9UJA3-3] |
Protocols and materials databases
Antibodypediai | 8265, 257 antibodies |
Genome annotation databases
Ensembli | ENST00000265187; ENSP00000265187; ENSG00000125885 [Q9UJA3-3] ENST00000378883; ENSP00000368161; ENSG00000125885 [Q9UJA3-2] ENST00000378886; ENSP00000368164; ENSG00000125885 [Q9UJA3-4] ENST00000378896; ENSP00000368174; ENSG00000125885 [Q9UJA3-1] ENST00000610722; ENSP00000478141; ENSG00000125885 [Q9UJA3-1] |
GeneIDi | 84515 |
KEGGi | hsa:84515 |
UCSCi | uc002wmi.5, human [Q9UJA3-1] |
Organism-specific databases
CTDi | 84515 |
DisGeNETi | 84515 |
EuPathDBi | HostDB:ENSG00000125885.13 |
GeneCardsi | MCM8 |
HGNCi | HGNC:16147, MCM8 |
HPAi | ENSG00000125885, Low tissue specificity |
MalaCardsi | MCM8 |
MIMi | 608187, gene 612885, phenotype |
neXtProti | NX_Q9UJA3 |
OpenTargetsi | ENSG00000125885 |
Orphaneti | 619, NON RARE IN EUROPE: Primary ovarian failure |
PharmGKBi | PA25696 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0480, Eukaryota |
GeneTreei | ENSGT01010000222249 |
HOGENOMi | CLU_000995_7_2_1 |
InParanoidi | Q9UJA3 |
OMAi | SNRSQAK |
OrthoDBi | 266497at2759 |
PhylomeDBi | Q9UJA3 |
TreeFami | TF323155 |
Enzyme and pathway databases
PathwayCommonsi | Q9UJA3 |
Reactomei | R-HSA-113507, E2F-enabled inhibition of pre-replication complex formation R-HSA-176187, Activation of ATR in response to replication stress R-HSA-176974, Unwinding of DNA R-HSA-68689, CDC6 association with the ORC:origin complex R-HSA-68827, CDT1 association with the CDC6:ORC:origin complex R-HSA-68867, Assembly of the pre-replicative complex R-HSA-68949, Orc1 removal from chromatin R-HSA-68962, Activation of the pre-replicative complex |
Miscellaneous databases
BioGRID-ORCSi | 84515, 7 hits in 847 CRISPR screens |
ChiTaRSi | MCM8, human |
GeneWikii | MCM8 |
GenomeRNAii | 84515 |
Pharosi | Q9UJA3, Tbio |
PROi | PR:Q9UJA3 |
RNActi | Q9UJA3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125885, Expressed in testis and 204 other tissues |
Genevisiblei | Q9UJA3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR031327, MCM IPR001208, MCM_dom IPR041562, MCM_lid IPR033762, MCM_OB IPR012340, NA-bd_OB-fold IPR027417, P-loop_NTPase |
PANTHERi | PTHR11630, PTHR11630, 1 hit |
Pfami | View protein in Pfam PF00493, MCM, 1 hit PF17855, MCM_lid, 1 hit PF17207, MCM_OB, 1 hit |
PRINTSi | PR01657, MCMFAMILY |
SMARTi | View protein in SMART SM00382, AAA, 1 hit SM00350, MCM, 1 hit |
SUPFAMi | SSF50249, SSF50249, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50051, MCM_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MCM8_HUMAN | |
Accessioni | Q9UJA3Primary (citable) accession number: Q9UJA3 Secondary accession number(s): B2RBG7 Q969I5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 17, 2003 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 188 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations