H1-0
H1.0 Linker Histone, Member of the H1 Histone Family
Gene Information Card
| Symbol | H1-0 |
|---|---|
| Full Name | H1.0 Linker Histone |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 3005 ncbi.nlm.nih.gov/gene/3005 |
| Ensembl ID | ENSG00000189060 |
| UniProt ID | P07305 |
| OMIM ID | 142708 |
| HGNC ID | 4716 |
| Aliases | H1FV, H1.0, H1-0 |
Description
The H1-0 gene encodes H1.0, a member of the H1 histone family that functions as a linker histone. H1.0 binds to the linker DNA between nucleosomes, stabilizing higher-order chromatin structure and regulating gene expression by modulating chromatin compaction. It is involved in cell differentiation, proliferation, and development. H1-0 is located on chromosome 22q13.1 and is expressed in various tissues, with highest levels in differentiated cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered H1.0 expression may affect chromatin remodeling and gene silencing, contributing to tumor progression. | ClinVar, COSMIC |
| Colorectal cancer | Reduced H1.0 levels are associated with increased chromatin accessibility and oncogene activation. | COSMIC, PubMed |
| Hodgkin lymphoma | H1.0 downregulation is observed in Hodgkin lymphoma cells, potentially influencing chromatin structure and gene expression. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 10.3 | Medium |
| Liver | 8.7 | Low |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 11.8 | Leukemia cell line |
| A549 | 9.4 | Lung cancer cell line |
| MCF7 | 7.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.214C>T | Nonsense | <0.1% | Predicted loss of function |
| c.345G>A | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) are predicted to cause premature truncation and loss of H1.0 function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for H1-0.
Dominant Negative (DN)
No dominant-negative mutations have been described for H1-0.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • DNA binding |
| • nucleosome binding | • chromatin organization |
| • negative regulation of transcription | • nucleus |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
Protein Summary
H1.0 is a linker histone protein of 194 amino acids (21.6 kDa) that binds to the linker DNA between nucleosomes, facilitating higher-order chromatin folding. It contains a central globular domain and unstructured N- and C-terminal tails. H1.0 is involved in chromatin compaction, transcriptional repression, and cellular differentiation. Its expression is enriched in differentiated cells and is often reduced in cancer.
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