MCM9
DNA helicase MCM9
Also known as: C6orf61, dJ329L24.3, FLJ20170, MCM9_HUMAN, MCMDC1, MGC35304
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NXL9
- Gene
- MCM9
- Ensembl
- ENSG00000111877
- Chromosome
- 6
- Canonical length
- 1143 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
1143 residues, UniProt reviewed canonical sequence.
>Q9NXL9|MCM9
1 MNSDQVTLVG QVFESYVSEY HKNDILLILK ERDEDAHYPV VVNAMTLFET NMEIGEYFNM
61 FPSEVLTIFD SALRRSALTI LQSLSQPEAV SMKQNLHARI SGLPVCPELV REHIPKTKDV
121 GHFLSVTGTV IRTSLVKVLE FERDYMCNKC KHVFVIKADF EQYYTFCRPS SCPSLESCDS
181 SKFTCLSGLS SSPTRCRDYQ EIKIQEQVQR LSVGSIPRSM KVILEDDLVD SCKSGDDLTI
241 YGIVMQRWKP FQQDVRCEVE IVLKANYIQV NNEQSSGIIM DEEVQKEFED FWEYYKSDPF
301 AGRNVILASL CPQVFGMYLV KLAVAMVLAG GIQRTDATGT RVRGESHLLL VGDPGTGKSQ
361 FLKYAAKITP RSVLTTGIGS TSAGLTVTAV KDSGEWNLEA GALVLADAGL CCIDEFNSLK
421 EHDRTSIHEA MEQQTISVAK AGLVCKLNTR TTILAATNPK GQYDPQESVS VNIALGSPLL
481 SRFDLILVLL DTKNEDWDRI ISSFILENKG YPSKSEKLWS MEKMKTYFCL IRNLQPTLSD
541 VGNQVLLRYY QMQRQSDCRN AARTTIRLLE SLIRLAEAHA RLMFRDTVTL EDAITVVSVM
601 ESSMQGGALL GGVNALHTSF PENPGEQYQR QCELILEKLE LQSLLSEELR RLERLQNQSV
661 HQSQPRVLEV ETTPGSLRNG PGEESNFRTS SQQEINYSTH IFSPGGSPEG SPVLDPPPHL
721 EPNRSTSRKH SAQHKNNRDD SLDWFDFMAT HQSEPKNTVV VSPHPKTSGE NMASKISNST
781 SQGKEKSEPG QRSKVDIGLL PSPGETGVPW RADNVESNKK KRLALDSEAA VSADKPDSVL
841 THHVPRNLQK LCKERAQKLC RNSTRVPAQC TVPSHPQSTP VHSPDRMLDS PKRKRPKSLA
901 QVEEPAIENV KPPGSPVAKL AKFTFKQKSK LIHSFEDHSH VSPGATKIAV HSPKISQRRT
961 RRDAALPVKR PGKLTSTPGN QISSQPQGET KEVSQQPPEK HGPREKVMCA PEKRIIQPEL
1021 ELGNETGCAH LTCEGDKKEE VSGSNKSGKV HACTLARLAN FCFTPPSESK SKSPPPERKN
1081 RGERGPSSPP TTTAPMRVSK RKSFQLRGST EKLIVSKESL FTLPELGDEA FDCDWDEEMR
1141 KKSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCM9 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)
- 0.46
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 12 nTPM
- epididymis: 9.6 nTPM
- thymus: 7.4 nTPM
- lymph node: 7 nTPM
- tonsil: 6.7 nTPM
- breast: 6.5 nTPM
Single-cell type
- neutrophil progenitors: 151 nCPM
- cardiomyocytes: 127 nCPM
- adipocytes: 106 nCPM
- myonuclei: 105 nCPM
- renal collecting duct intercalated cells: 101 nCPM
- microglia: 100 nCPM
Immune cell
- NK-cell: 4.8 nTPM
- basophil: 4.4 nTPM
- eosinophil: 4.4 nTPM
- T-reg: 3.5 nTPM
- myeloid DC: 2.9 nTPM
- neutrophil: 2.9 nTPM
Brain region
- white matter: 9.4 nTPM
- choroid plexus: 9.1 nTPM
- midbrain: 8.7 nTPM
- basal ganglia: 8.6 nTPM
- medulla oblongata: 8.6 nTPM
- pons: 8.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MCM9.
Disease | AllUniProt
Conditions MCM9 is implicated in, by any mechanism.
- Ovarian dysgenesis 4 (ODG4) MIM:616185
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 222 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- 46,XX ovarian dysgenesis-short stature syndrome
- Premature ovarian failure 1
- Non-obstructive azoospermia
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)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA damage response
- double-strand break repair via homologous recombination
- female gamete generation
- mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication
- protein localization to chromatin
- recombinational interstrand cross-link repair
Molecular functions
- 3'-5' DNA helicase activity
- ATP binding
- ATP hydrolysis activity
- chromatin binding
- DNA helicase activity
- enzyme binding
- MutLbeta complex binding
- MutSalpha complex binding
- MutSbeta complex binding
- protein-containing complex binding
- single-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCM9 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 MCM9 as an antibody target. Whether an autoantibody or antibody against MCM9 could matter depends on whether native MCM9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCM9 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 MCM9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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