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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MIS18A
MIS18 kinetochore protein A
Chromosome 21 · 21q22.11
NCBI Gene: 54069Ensembl: ENSG00000159055.5HGNC: HGNC:1286UniProt: Q9NYP9
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingchromosome, centromeric regionchromatindiabetes mellitushypertensionatrial fibrillationlung adenocarcinoma
✦AI Summary

MIS18A is a kinetochore protein essential for centromere maintenance and accurate chromosome 21. Its primary function is recruiting CENP-A, a histone H3 variant that epigenetically defines centromeres, to centromeric chr21 1. MIS18A operates as part of the Mis18 complex (Mis18α-Mis18β-Mis18BP1), which must be activated during early G1 phase to restore CENP-A nucleosomes diluted during DNA replication 2. PLK1 phosphorylates MIS18A at Ser54, enabling PLK1 binding through its Polo-box domain and activating the complex to facilitate HJURP-mediated CENP-A loading 1. Additionally, SUMO polymer regulation by SENP6 controls MIS18A modification, necessary for proper centromere-associated network assembly 3. Beyond centromere function, MIS18A expression is developmentally regulated. In Down syndrome models, MIS18A overexpression inhibits Sonic hedgehog-dependent proliferation of granule cell precursors, suggesting dosage-sensitive effects on developmental signaling 4. MIS18A expression is also cell cycle-regulated and downregulated by Fam72a during mitogen stimulation, influencing neural stem cell proliferation 5. As a stemness-associated gene, MIS18A has been identified as a potential biomarker in acute leukemia studies 6. These findings establish MIS18A as critical for both centromere biology and developmental/pathological cell cycle control.

Sources cited
1
MIS18A phosphorylation by PLK1 at Ser54 enables complex activation and CENP-A loading
PMID: 39236175
2
CENP-A must be actively replenished during early G1 by dedicated protein machinery
PMID: 39236163
3
MIS18A is subject to SUMO polymer modification regulated by SENP6 protease
PMID: 31485003
4
MIS18A overexpression inhibits SHH-dependent proliferation of primary granule cell precursors
PMID: 36995257
5
Fam72a downregulates MIS18A expression during cell cycle and mitogen stimulation
PMID: 41414706
6
MIS18A identified as stemness-associated gene with potential prognostic value in acute leukemia
PMID: 34411647
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.21Weak
hypertensionOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
Increased blood pressureOpen Targets
0.07Suggestive
bilirubin metabolism diseaseOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.06Suggestive
cardiovascular diseaseOpen Targets
0.06Suggestive
essential hypertensionOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
male infertilityOpen Targets
0.02Suggestive
pancreatic adenocarcinomaOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CENPCProtein interaction100%CENPTProtein interaction100%DNMT3BProtein interaction100%CENPLProtein interaction100%CENPOProtein interaction100%CENPQProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
31%
Ovary
29%
Liver
16%
Heart
16%
Lung
11%
Gene Interaction Network
Click a node to explore
MIS18ACENPCCENPTDNMT3BCENPLCENPOCENPQ
PROTEIN STRUCTURE
Preparing viewer…
PDB8S30 · 1.94 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.54–1.37]
RankingsWhere MIS18A stands among ~20K protein-coding genes
  • #8,102of 20,598
    Most Researched56
  • #14,312of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedMIS18A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Role of protein kinase PLK1 in the epigenetic maintenance of centromeres.
PMID: 39236163
Science · 2024
1.00
2
LncRNAs down-regulate Myh1, Casr, and Mis18a expression in the Substantia Nigra of aged male rats.
PMID: 31576812
Aging (Albany NY) · 2019
0.90
3
Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome.
PMID: 36995257
Dis Model Mech · 2023
0.80
4
PLK1-mediated phosphorylation cascade activates Mis18 complex to ensure centromere inheritance.
PMID: 39236175
Science · 2024
0.70
5
Identification of biomarkers for acute leukemia via machine learning-based stemness index.
PMID: 34411647
Gene · 2021
0.60