H1-1 (H1.1 Linker Histone, Cluster Member)
A core component of chromatin structure involved in DNA compaction and gene regulation.
Gene Information Card
| Symbol | H1-1 |
|---|---|
| Full Name | H1.1 Linker Histone, Cluster Member |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3024 ncbi.nlm.nih.gov/gene/3024 |
| Ensembl ID | ENSG00000124610 |
| UniProt ID | Q02539 |
| OMIM ID | 142709 |
| HGNC ID | 4715 |
| Aliases | HIST1H1A, H1.1, H1a |
Description
H1-1 (H1.1 linker histone, cluster member) is a protein-coding gene located on chromosome 6p22.2. It encodes a member of the histone H1 family, which are linker histones essential for the compaction of nucleosomes into higher-order chromatin structures. H1-1 binds to the linker DNA between nucleosomes and stabilizes the 30-nm chromatin fiber, thereby influencing DNA replication, transcription, and repair. The gene is part of the histone cluster 1 on chromosome 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered H1.1 expression may disrupt chromatin compaction, leading to aberrant gene expression and genomic instability. | COSMIC database reports somatic mutations in various cancers. |
| Autoimmune disorders | Dysregulation of linker histones can expose self-DNA, potentially triggering autoimmune responses. | Limited evidence; inferred from histone biology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Testis | 6.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line; high expression |
| HeLa | 9.8 | Cervical cancer cell line; medium expression |
| A549 | 4.5 | Lung cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.310C>T (p.Pro104Ser) | Missense | <0.1% in COSMIC | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in H1-1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in H1-1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in H1-1.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • nucleus (GO:0005634) |
| • nucleosome assembly (GO:0006334) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging of telomere ends (Reactome: R-HSA-171306)
Protein Summary
The H1-1 protein (UniProt Q02539) is a 221-amino-acid linker histone with a conserved globular domain flanked by intrinsically disordered N- and C-terminal tails. It binds to the nucleosome core particle and linker DNA, facilitating chromatin compaction. Post-translational modifications (e.g., phosphorylation, acetylation) modulate its binding affinity and dynamic exchange with chromatin, thereby regulating gene expression and DNA repair.
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