H1-6 (H1.6 Linker Histone, Cluster Member)
A replication-dependent histone H1 variant involved in chromatin compaction and transcriptional regulation.
Gene Information Card
| Symbol | H1-6 |
|---|---|
| Full Name | H1.6 linker histone, cluster member |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3006 ncbi.nlm.nih.gov/gene/3006 |
| Ensembl ID | ENSG00000187498 |
| UniProt ID | P22492 |
| OMIM ID | 142711 |
| HGNC ID | 4719 |
| Aliases | H1.6, H1F6, H1c, H1-6 |
Description
H1-6 encodes a member of the histone H1 family, which functions as a linker histone binding to nucleosomes to stabilize higher-order chromatin structure and regulate gene expression. This replication-dependent histone is expressed predominantly in testis and is involved in spermatogenesis. Alterations in H1-6 expression have been linked to cancer and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Reduced or absent H1-6 expression disrupts chromatin condensation during spermatogenesis | OMIM 142711; NCBI Gene |
| Prostate cancer | Aberrant H1-6 expression may alter chromatin remodeling and gene silencing | COSMIC; literature |
| Breast cancer | Dysregulation of linker histones including H1-6 contributes to tumor progression | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Lymph node | 2.1 | Low |
| Bone marrow | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.3 | Very low |
| K562 | 0.2 | Very low |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Trp) | missense | <0.01% | May affect DNA binding; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in H1-6 are predicted to impair chromatin compaction, potentially affecting spermatogenesis and gene silencing.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for H1-6.
Dominant Negative (DN)
No dominant-negative mutations have been reported for H1-6.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • nucleosomal DNA binding |
| • chromatin organization | • nucleosome assembly |
| • spermatogenesis |
Pathways
• Chromatin organization
• Packaging of telomere ends
• Senescence-associated heterochromatin foci
Protein Summary
H1.6 is a linker histone protein that binds to the linker DNA between nucleosomes, facilitating higher-order chromatin folding. It is highly expressed in testis and plays a critical role in the condensation of spermatid chromatin. The protein contains a conserved globular domain and a C-terminal tail rich in lysine and alanine residues.
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