H1-8
H1.8 Linker Histone, Cluster Member
Gene Information Card
| Symbol | H1-8 |
|---|---|
| Full Name | H1.8 linker histone, cluster member |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3001 ncbi.nlm.nih.gov/gene/3001 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q92522 |
| OMIM ID | 602785 |
| HGNC ID | 4718 |
| Aliases | H1.8, H1-8, H1F8, H1.8 linker histone |
Description
H1-8 (H1.8 linker histone, cluster member) is a protein-coding gene located on chromosome 6p22.2. It encodes a member of the histone H1 family, which functions as a linker histone involved in chromatin compaction and regulation of gene expression. H1.8 binds to the linker DNA between nucleosomes, stabilizing higher-order chromatin structures and modulating transcription, replication, and repair. The gene is part of the histone H1 cluster on chromosome 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H1.8 expression may affect chromatin structure and gene regulation, contributing to oncogenesis. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.2 | Leukemia cell line |
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| MCF7 | 5.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown functional impact |
| c.456G>A | Synonymous | <0.1% | No change in protein sequence |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • nucleus (GO:0005634) |
| • nucleosome assembly (GO:0006334) | • DNA binding (GO:0003677) |
| • protein heterodimerization activity (GO:0046982) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging of telomere ends (Reactome: R-HSA-171306)
Protein Summary
H1.8 linker histone (UniProt Q92522) is a 213-amino acid protein with a conserved globular domain and flexible N- and C-terminal tails. It binds to linker DNA between nucleosomes, promoting chromatin compaction and higher-order structure. H1.8 is involved in transcriptional regulation, DNA repair, and chromosome stability. Expression is enriched in testis and certain cancer cell lines.
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