H1-7: H1.7 Linker Histone, Cluster Member
A replication-independent histone H1 variant involved in chromatin structure and gene regulation.
Gene Information Card
| Symbol | H1-7 |
|---|---|
| Full Name | H1.7 linker histone, cluster member |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 3008 ncbi.nlm.nih.gov/gene/3008 |
| Ensembl ID | ENSG00000187498 |
| UniProt ID | Q92522 |
| OMIM ID | 142220 |
| HGNC ID | 4719 |
| Aliases | HIST1H1E, H1.7, H1F4, H1E |
Description
H1-7 (HIST1H1E) encodes a member of the histone H1 family, which functions as a linker histone binding to nucleosomes and stabilizing higher-order chromatin structure. This replication-independent variant is expressed in various tissues and plays roles in transcriptional regulation, DNA repair, and cell cycle control. Mutations in H1-7 are associated with Rahman syndrome and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rahman syndrome | Heterozygous loss-of-function mutations in H1-7 lead to altered chromatin compaction and gene expression dysregulation, causing intellectual disability and overgrowth. | ClinVar, OMIM |
| Breast cancer | Somatic mutations and altered expression of H1-7 may contribute to tumor progression through chromatin remodeling. | COSMIC, NCBI |
| Colorectal cancer | Reduced H1-7 expression is associated with poor prognosis and genomic instability. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Bone marrow | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 9.5 | Leukemia cell line |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.435_438del (p.Lys146GlufsTer3) | Frameshift | Rare | Loss of function; associated with Rahman syndrome |
| c.1A>G (p.Met1Val) | Missense | Very rare | Likely loss of function; reported in developmental disorder |
| c.544C>T (p.Arg182Trp) | Missense | Somatic (0.1%) | Unknown functional effect; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in H1-7 lead to truncated or absent protein, reducing chromatin compaction and altering gene expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for H1-7.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type H1-7 function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • nucleosomal DNA binding |
| • chromatin organization | • nucleosome assembly |
| • negative regulation of transcription |
Pathways
• Chromatin organization
• Telomere maintenance
• DNA replication-independent nucleosome assembly
Protein Summary
H1.7 is a 219-amino-acid linker histone protein with a central globular domain and unstructured N- and C-terminal tails. It binds to the linker DNA between nucleosomes, facilitating higher-order chromatin folding. Post-translational modifications (e.g., phosphorylation) modulate its affinity for chromatin and its regulatory functions.
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