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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MIS18BP1
MIS18 binding protein 1
Chromosome 14 · 14q21.2
NCBI Gene: 55320Ensembl: ENSG00000129534.15HGNC: HGNC:20190UniProt: Q6P0N0
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromosome, centromeric regionnucleoplasmCENP-A containing chromatin assemblyneurodegenerative diseaseovarian dysfunctionDNA methylationinfluenza A (H1N1)
✦AI Summary

MIS18BP1 (MIS18 binding protein 1) is a critical component of the Mis18 complex that regulates centromere maintenance and chromosome 14 during mitosis. The protein forms a hetero-octameric complex with Mis18α and Mis18β (4 Mis18α, 2 Mis18β, and 2 Mis18BP1 subunits), where MIS18BP1's N-terminal region (residues 20-130) directly interacts with Mis18α/β through the Mis18α MeDiY domain 12. This complex is essential for recruiting the CENP-A chaperone HJURP to centromeres, enabling proper loading of CENP-A nucleosomes that define centromeric chr14 32. The activity of MIS18BP1 is tightly regulated by cell cycle-dependent phosphorylation, particularly by PLK1 kinase at Thr78 and Ser93 residues, which promotes Mis18 complex assembly and CENP-A deposition in early G1 phase 34. Disruption of these phosphorylations impairs centromere recruitment of HJURP and CENP-A loading 3. Disease relevance includes potential roles in cancer, as MIS18BP1 overexpression promotes bladder cancer cell proliferation through P53 pathway inactivation 5, and de novo mutations have been identified in autism spectrum disorders and Cornelia de Lange syndrome 67.

Sources cited
1
MIS18BP1 N-terminal region (residues 20-130) directly interacts with Mis18α/β and forms hetero-octameric complex
PMID: 28377371
2
Mis18 complex structure and assembly composition with specific subunit ratios
PMID: 38951710
3
PLK1-mediated phosphorylation of MIS18BP1 at Thr78 and Ser93 regulates complex activity and CENP-A loading
PMID: 39236175
4
PLK1 promotes CENP-A deposition and centromere maintenance through phosphorylation network
PMID: 39236163
5
MIS18BP1 overexpression promotes bladder cancer proliferation via P53 pathway inactivation
PMID: 40205244
6
De novo MIS18BP1 mutations identified in autism spectrum disorders
PMID: 35205231
7
MIS18BP1 variants found in Cornelia de Lange syndrome patients
PMID: 40677927
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
ovarian dysfunctionOpen Targets
0.29Weak
DNA methylationOpen Targets
0.21Weak
influenza A (H1N1)Open Targets
0.20Weak
hypersomniaOpen Targets
0.19Weak
joint diseaseOpen Targets
0.17Weak
central nervous system infectionOpen Targets
0.17Weak
colorectal cancerOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
telomere syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CENPCProtein interaction100%RAD51AP1Protein interaction100%RACGAP1Protein interaction100%CENPLProtein interaction100%CENPFProtein interaction92%CENPEProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
14%
Lung
12%
Heart
9%
Brain
7%
Liver
4%
Gene Interaction Network
Click a node to explore
MIS18BP1CENPCRAD51AP1RACGAP1CENPLCENPFCENPE
PROTEIN STRUCTURE
Preparing viewer…
PDB8S31 · 2.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.80]
RankingsWhere MIS18BP1 stands among ~20K protein-coding genes
  • #8,337of 20,598
    Most Researched54
  • #6,613of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedMIS18BP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PLK1-mediated phosphorylation cascade activates Mis18 complex to ensure centromere inheritance.
PMID: 39236175
Science · 2024
1.00
2
Functional profiling of murine glioma models highlights targetable immune evasion phenotypes.
PMID: 39592459
Acta Neuropathol · 2024
0.90
3
MIS18BP1 promotes bladder cancer cell proliferation and growth via inactivating P53 signaling pathway.
PMID: 40205244
Med Oncol · 2025
0.80
4
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
PMID: 40677927
Hum Mutat · 2025
0.70
5
Role of protein kinase PLK1 in the epigenetic maintenance of centromeres.
PMID: 39236163
Science · 2024
0.60