HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
28 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
H1-4
H1.4 linker histone, cluster member
Chromosome 6 Β· 6p22.2
NCBI Gene: 3008Ensembl: ENSG00000168298.7HGNC: HGNC:4718UniProt: A3R0T8
198PubMed Papers
21Diseases
0Drugs
36Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusRNA bindingprotein bindingnuclear speckRahman syndromesyndromic intellectual disabilitygenetic disorderTatton-Brown-Rahman overgrowth syndrome
✦AI Summary

H1.4 is a linker histone that binds to DNA between nucleosomes and is essential for chr6 structure and gene regulation 12. It promotes chr6 compaction and facilitates formation of repressive H3K27me3 marks through PRC2/EZH2 complex activity, with binding affinity dependent on linker DNA length and trajectory 123. H1.4 regulates individual gene transcription through chr6 remodeling, nucleosome spacing, and DNA methylation 2. H1.4 mutations are pathogenic drivers of cancer and developmental disorders. Loss-of-function mutations promote B-cell lymphomas by disrupting 3D chr6 architecture, causing decompaction that alters epigenetic states and derepresses developmentally silenced genes 4. H1.4 mutations also cause overgrowth syndromes with intellectual disability (Rahman syndrome), with pathogenic variants reducing DNA binding capacity through charge reduction and truncation of critical residues 5. Conversely, H1.4 overexpression contributes to PARP inhibitor resistance in ovarian cancer through CYP1B1 interaction and increased chr6 accessibility 6. H1.4 has specialized roles in immune differentiation and antimicrobial defense. Loss of H1.2 and H1.4 negatively regulates neutrophil lineage differentiation, promoting eosinophil-like programs 7. H1.4 depletion in breast cancer cells causes apoptosis, indicating essential roles in cell survival 8. Additionally, H1.4 exhibits bactericidal and antibiofilm activity against Pseudomonas aeruginosa through membrane disruption mechanisms 9.

Sources cited
1
H1.4 binds to linker DNA between nucleosomes and promotes H3K27me3 mark formation
PMID: 35581345
2
H1.4 is necessary for chromatin fiber condensation and regulates gene transcription through chromatin remodeling and nucleosome spacing
PMID: 40240600
3
H1.4 promotes H3K27me3 mark formation by PRC2/EZH2 complex
PMID: 40516528
4
H1.4 mutations are driver mutations in B-cell lymphomas that disrupt 3D chromatin architecture and derepress developmental genes
PMID: 33299181
5
HIST1H1E (H1.4) mutations cause overgrowth with intellectual disability (Rahman syndrome) through reduced DNA binding capacity
PMID: 28475857
6
H1.4 downregulation associated with increased chromatin accessibility promotes PARP inhibitor resistance in ovarian cancer through CYP1B1 interaction
PMID: 39395328
7
Loss of H1.4 negatively regulates neutrophil lineage differentiation and promotes eosinophil-like transcriptional programs
PMID: 32391789
8
H1.4 depletion causes cell death in breast cancer cells, indicating essential role in cell survival
PMID: 18927631
9
H1.4 exhibits bactericidal and antibiofilm activity against Pseudomonas aeruginosa through membrane disruption
PMID: 39470247
Disease Associationsβ“˜21
Rahman syndromeOpen Targets
0.69Moderate
syndromic intellectual disabilityOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.39Weak
Tatton-Brown-Rahman overgrowth syndromeOpen Targets
0.37Weak
Pitt-Hopkins syndromeOpen Targets
0.34Weak
auditory neuropathyOpen Targets
0.33Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
multiple myelomaOpen Targets
0.26Weak
breast carcinomaOpen Targets
0.07Suggestive
actinic keratosisOpen Targets
0.07Suggestive
Gorham-Stout diseaseOpen Targets
0.07Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
follicular lymphomaOpen Targets
0.02Suggestive
in situ carcinomaOpen Targets
0.02Suggestive
diffuse large B-cell lymphomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Rahman syndromeUniProt
Pathogenic Variants36
NM_005321.3(H1-4):c.441dup (p.Lys148fs)Pathogenic
Rahman syndrome|not provided|Auditory neuropathy spectrum disorder|Pitt-Hopkins syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 148
NM_005321.3(H1-4):c.435dup (p.Thr146fs)Pathogenic
not provided|Rahman syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 146
NM_005321.3(H1-4):c.509_549del (p.Ala170fs)Likely pathogenic
Rahman syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 170
NM_005321.3(H1-4):c.414dup (p.Lys139fs)Pathogenic
Rahman syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_005321.3(H1-4):c.433dup (p.Ala145fs)Pathogenic
not provided|Rahman syndrome|not specified
β˜…β˜…β˜†β˜†2025β†’ Residue 145
NM_005321.3(H1-4):c.429_430del (p.Ala144fs)Pathogenic
Rahman syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 144
NM_005321.3(H1-4):c.464dup (p.Lys157fs)Pathogenic
Rahman syndrome|Neurodevelopmental disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_005321.3(H1-4):c.454_455insT (p.Lys152fs)Pathogenic
not provided|Rahman syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 152
NM_005321.3(H1-4):c.430dup (p.Ala144fs)Pathogenic
Rahman syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 144
NM_005321.3(H1-4):c.365dup (p.Ala123fs)Pathogenic
Rahman syndrome|HIST1H1E-related neurodevelopmental disorder with multiple anomalies|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 123
NM_005321.3(H1-4):c.447dup (p.Ser150fs)Pathogenic
Rahman syndrome|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 150
NM_005321.3(H1-4):c.277del (p.Leu93fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 93
NM_005321.3(H1-4):c.385_386del (p.Lys129fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 129
NM_005321.3(H1-4):c.472del (p.Ala158fs)Likely pathogenic
Rahman syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 158
NM_005321.3(H1-4):c.446_447insT (p.Lys149fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 149
NM_005321.3(H1-4):c.410_415delinsTCCT (p.Lys137fs)Pathogenic
Rahman syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 137
NM_005321.3(H1-4):c.445_446del (p.Lys149fs)Pathogenic
H1-4-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 149
NM_005321.3(H1-4):c.436_458del (p.Thr146fs)Pathogenic
Rahman syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 146
NM_005321.3(H1-4):c.436dup (p.Thr146fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 146
NM_005321.3(H1-4):c.396dup (p.Gly133fs)Pathogenic
Rahman syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 133
View on ClinVar β†—
Related Genes
H1-10Shared pathway100%H3C12Protein interaction100%H3C13Protein interaction100%H2AC8Protein interaction100%H2BC12Protein interaction100%H2BC11Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
2%
Lung
1%
Liver
1%
Brain
1%
Heart
0%
Gene Interaction Network
Click a node to explore
H1-4H1-10H3C12H3C13H2AC8H2BC12H2BC11
PROTEIN STRUCTURE
Preparing viewer…
PDB3TZD Β· 1.81 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.20 [0.71–1.85]
RankingsWhere H1-4 stands among ~20K protein-coding genes
  • #2,140of 20,598
    Most Researched198 Β· top quartile
  • #1,643of 5,498
    Most Pathogenic Variants36
  • #16,834of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedH1-4
Sources retrieved28 papers
Response timeβ€”
πŸ“„ Sources
28β–Ό
1
CYP1B1 promotes PARPi-resistance via histone H1.4 interaction and increased chromatin accessibility in ovarian cancer.
PMID: 39395328
Drug Resist Updat Β· 2024
1.00
2
Histone H1 loss drives lymphoma by disrupting 3D chromatin architecture.
PMID: 33299181
Nature Β· 2021
0.90
3
The role of linker histone H1 modifications in the regulation of gene expression and chromatin dynamics.
PMID: 26348411
Biochim Biophys Acta Β· 2016
0.80
4
PMID: 33270410
0.80
5
Analysis of the interplay between MeCP2 and histone H1 during
PMID: 37976174
Epigenetics Β· 2023
0.72