Seroatlas · Human Serome Atlas

MCM8

DNA helicase MCM8

Also known as: C20orf154, dJ967N21.5, MCM8_HUMAN, MGC119522, MGC119523, MGC12866, MGC4816, REC

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UJA3
Gene: MCM8
Ensembl: ENSG00000125885
Chromosome: 20
Canonical length: 840 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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 the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

840 residues, UniProt reviewed canonical sequence.

>Q9UJA3|MCM8
     1  MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
    61  TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
   121  ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
   181  LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
   241  LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
   301  QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
   361  SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHELV
   421  KAGLALALFG GSQKYADDKN RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN
   481  TTTTSGLTVT LSKDSSSGDF ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS
   541  LAKAGVVCSL PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
   601  HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP
   661  IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT
   721  EARARLELRE EATKEDAEDI VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI
   781  SALNNVAERT YNNIFQFHQL RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MCM8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

testis: 13 nTPM
bone marrow: 9.5 nTPM
thymus: 8.4 nTPM
lymph node: 6.9 nTPM
skeletal muscle: 6.2 nTPM
tonsil: 6 nTPM

Single-cell type

loop of henle epithelial cells: 19 nCPM
renal collecting duct principal cells: 15 nCPM
proximal tubule cells: 15 nCPM
renal collecting duct intercalated cells: 15 nCPM
distal convoluted tubule cells: 13 nCPM
choroid plexus epithelial cells: 13 nCPM

Immune cell

basophil: 1 nTPM
MAIT T-cell: 0.7 nTPM
T-reg: 0.5 nTPM
eosinophil: 0.4 nTPM
gdT-cell: 0.4 nTPM
memory CD8 T-cell: 0.4 nTPM

Brain region

cerebellum: 19 nTPM
white matter: 17 nTPM
choroid plexus: 14 nTPM
cerebral cortex: 14 nTPM
basal ganglia: 13 nTPM
hypothalamus: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MCM8.

Disease | AllUniProt

Conditions MCM8 is implicated in, by any mechanism.

Premature ovarian failure 10 (POF10) MIM:612885

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 176 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Premature ovarian failure 10
Azoospermia
Joubert syndrome 6

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.95
gnomAD pLI: 0
gnomAD missense Z: 0.36
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

MCM domain
AAA+ ATPase domain
Nucleic acid-binding, OB-fold
P-loop containing nucleoside triphosphate hydrolase
Mini-chromosome maintenance protein
MCM OB domain
MCM, AAA-lid domain
MCM P-loop domain
MCM OB domain
MCM AAA-lid domain
MCM8/REC, winged helix domain
MCM8, N-terminal domain
MCM8 winged helix domain
MCM8, N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MCM8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MCM8 as an antibody target. Whether an autoantibody or antibody against MCM8 could matter depends on whether native MCM8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MCM8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MCM8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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