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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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H1-8
H1.8 linker histone
Chromosome 3 · 3q22.1
NCBI Gene: 132243Ensembl: ENSG00000178804.8HGNC: HGNC:18463UniProt: Q8IZA3
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomedouble-stranded DNA bindingstructural constituent of chromatinnucleosomal DNA bindingopen-angle glaucomaMODYisolated asymptomatic elevation of creatine phosphokinasediabetes mellitus, permanent neonatal 4
✦AI Summary

H1-8 (H1.8) is an oocyte-specific linker histone that plays critical roles in female reproductive biology and chromosome 3. H1-8 is essential for oogenesis and meiotic maturation, as mutations in this gene are associated with premature ovarian insufficiency (POI) 1. The protein is specifically expressed in oocytes during oogenesis and early embryogenesis 2. Mechanistically, H1-8 functions as a chr3 structural regulator by inhibiting the binding of condensins and DNA topoisomerase II to nucleosomes, thereby controlling chromosome 3 and loop size during mitosis 3. This regulation prevents hyper-chromosome 3 and maintains proper chromosome 3 until anaphase. H1-8 preferentially associates with metaphase chr3 and forms chr3 structures at the on-dyad position 4. The protein's unique properties, including greater mobility compared to somatic histone H1c, contribute to nuclear remodeling during early development. H1-8 deficiency results in abnormal chromosome 3 with thinner, longer chr3 due to shortened DNA loops, highlighting its importance in maintaining proper mitotic chromosome 3 3.

Sources cited
1
H1-8 mutations are associated with premature ovarian insufficiency and the gene is involved in folliculogenesis
PMID: 36732629
2
H1-8 is oocyte-specific and expressed during oogenesis and early embryogenesis
PMID: 12711322
3
H1-8 inhibits condensins and topoisomerase II binding to regulate chromosome structure and prevent hyper-individualization
PMID: 34406118
4
H1-8 preferentially binds metaphase chromatin and forms chromatosome structures at the on-dyad position
PMID: 34478647
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
open-angle glaucomaOpen Targets
0.08Suggestive
MODYOpen Targets
0.06Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
Hyperlipoproteinemia type 5Open Targets
0.03Suggestive
hyperlipoproteinemia type VOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.03Suggestive
HeadacheOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
splenic diseaseOpen Targets
0.02Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
in situ carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-4Protein interaction97%H1-10Protein interaction87%H1-6Protein interaction84%H4C8Protein interaction81%H4C15Protein interaction81%H1-4Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Heart
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
H1-8H3-4H1-10H1-6H4C8H4C15H1-4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IZA3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.44–1.08]
RankingsWhere H1-8 stands among ~20K protein-coding genes
  • #14,164of 20,598
    Most Researched20
  • #10,985of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedH1-8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Landscape of pathogenic mutations in premature ovarian insufficiency.
PMID: 36732629
Nat Med · 2023
1.00
2
Structure and expression of the human oocyte-specific histone H1 gene elucidated by direct RT-nested PCR of a single oocyte.
PMID: 12711322
Biochem Biophys Res Commun · 2003
0.90
3
Linker histone H1.8 inhibits chromatin binding of condensins and DNA topoisomerase II to tune chromosome length and individualization.
PMID: 34406118
Elife · 2021
0.80
4
Selection of a Novel DNA Aptamer Specific for 5-Hydroxymethylfurfural Using Capture-SELEX.
PMID: 37232925
Biosensors (Basel) · 2023
0.70
5
Structural features of nucleosomes in interphase and metaphase chromosomes.
PMID: 34478647
Mol Cell · 2021
0.60