H1-3: H1.3 Linker Histone, Cluster Member
A core component of chromatin structure involved in DNA packaging and gene regulation.
Gene Information Card
| Symbol | H1-3 |
|---|---|
| Full Name | H1.3 linker histone, cluster member |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3007 ncbi.nlm.nih.gov/gene/3007 |
| Ensembl ID | ENSG00000124529 |
| UniProt ID | P16402 |
| OMIM ID | 142710 |
| HGNC ID | 4717 |
| Aliases | H1.3, H1F3, H1s-2 |
Description
H1-3 encodes a member of the histone H1 family, which functions as a linker histone essential for chromatin compaction and higher-order DNA organization. H1.3 binds to the linker DNA between nucleosomes, stabilizing chromatin structure and modulating gene expression. It is ubiquitously expressed and plays roles in cell cycle regulation, differentiation, and DNA repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H1.3 expression and mutations disrupt chromatin structure, promoting genomic instability and aberrant gene expression. | COSMIC, ClinVar |
| Lung adenocarcinoma | Somatic mutations in H1-3 may contribute to tumor progression through chromatin dysregulation. | COSMIC |
| Colorectal cancer | Reduced H1.3 expression correlates with poor prognosis and altered transcriptional programs. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 nTPM | Medium |
| Bone marrow | 10.2 nTPM | Medium |
| Spleen | 9.8 nTPM | Medium |
| Testis | 8.5 nTPM | Medium |
| Brain | 6.1 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 nTPM | Cervical carcinoma cell line |
| K562 | 12.7 nTPM | Leukemia cell line |
| A549 | 10.1 nTPM | Lung carcinoma cell line |
| HepG2 | 9.4 nTPM | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Pro66Leu) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.304G>A (p.Glu102Lys) | Missense | <0.1% | Potential loss of DNA binding; COSMIC |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Likely loss of function; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression, leading to chromatin decompaction.
Gain of Function (GOF)
Not well characterized for H1-3; missense variants may alter chromatin binding affinity.
Dominant Negative (DN)
No dominant-negative mutations reported for H1-3.
View complete mutation data：
Gene Ontology (GO)
| • chromatin organization | • nucleosome assembly |
| • DNA binding | • chromatin binding |
| • nucleus |
Pathways
• Chromatin organization
• Packaging of telomere ends
• Senescence-associated heterochromatin foci
Protein Summary
Histone H1.3 is a 221-amino acid linker histone protein that binds to the nucleosome core particle and linker DNA, facilitating chromatin compaction into higher-order structures. It contains a central globular domain and intrinsically disordered N- and C-terminal tails. Post-translational modifications (e.g., phosphorylation, acetylation) regulate its dynamic interaction with chromatin, influencing transcription, replication, and repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
