H3C1: Histone H3.1, a Core Component of Nucleosomes
Essential for chromatin structure, gene regulation, and epigenetic inheritance; mutations linked to cancer and developmental disorders.
Gene Information Card
| Symbol | H3C1 |
|---|---|
| Full Name | H3 clustered histone 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8350 ncbi.nlm.nih.gov/gene/8350 |
| Ensembl ID | ENSG00000124529 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 4766 |
| Aliases | H3.1, H3/a, H3FA, HIST1H3A |
Description
H3C1 (H3 clustered histone 1) encodes replication-dependent histone H3.1, a core histone protein that forms the nucleosome octamer with histones H2A, H2B, and H4. H3.1 is essential for chromatin packaging, DNA replication, and transcriptional regulation. Post-translational modifications of H3.1, such as methylation and acetylation, play critical roles in epigenetic signaling. Somatic mutations in H3C1, particularly at glycine 34, are oncogenic drivers in pediatric high-grade gliomas and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pediatric diffuse intrinsic pontine glioma (DIPG) | Somatic H3.1 G34W/V mutations alter histone methylation patterns, leading to aberrant gene expression and tumorigenesis. | COSMIC; PMID: 22286216 |
| Pediatric high-grade glioma (pHGG) | Recurrent H3.1 G34R/V mutations disrupt H3K36 methylation and promote oncogenic transcription. | ClinVar; PMID: 23583981 |
| Glioblastoma multiforme | H3C1 mutations (G34W) identified in a subset of pediatric glioblastoma, associated with alternative lengthening of telomeres. | COSMIC; PMID: 24705251 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Lymph node | 10.8 | Medium |
| Testis | 9.5 | Medium |
| Brain | 7.2 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.4 | High expression |
| HeLa (cervical carcinoma) | 14.2 | High expression |
| A549 (lung carcinoma) | 11.8 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 9.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.102G>T (p.Gly34Val) | Missense | <1% in pediatric glioma | Alters H3K36 methylation, drives oncogenesis |
| c.102G>C (p.Gly34Arg) | Missense | <1% in pediatric glioma | Similar effect to G34V; disrupts SETD2 binding |
| c.103G>A (p.Gly35Ser) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established; H3.1 is essential and loss-of-function is likely lethal.
Gain of Function (GOF)
G34W/V mutations are gain-of-function, altering histone methylation landscape and promoting tumor growth.
Dominant Negative (DN)
G34 mutants may act in a dominant-negative manner by interfering with wild-type H3.1 deposition and modification.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • DNA binding (GO:0003677) |
| • nucleus (GO:0005634) | • nucleosome assembly (GO:0006334) |
| • protein heterodimerization activity (GO:0046982) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging of telomere ends (Reactome: R-HSA-171306)
• Epigenetic regulation of gene expression (KEGG: hsa05202)
Protein Summary
Histone H3.1 is a 136-amino acid core histone protein that forms the nucleosome particle. It contains a histone-fold domain for DNA binding and an N-terminal tail subject to extensive post-translational modifications (e.g., methylation at K4, K9, K27, K36, K79; acetylation at K9, K14, K18, K23). H3.1 is specifically deposited during DNA replication via the CAF-1 complex. Mutations at glycine 34 (G34W/V/R) are oncogenic in pediatric gliomas and are associated with altered H3K36 methylation and chromatin accessibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C1 Knockout HEK293 Cell Line | EDJ-KQ6203 | Human | 8350 | Details Get a Quote |
| H3C11 Knockout HEK293 Cell Line | EDJ-KQ6206 | Human | 8354 | Details Get a Quote |
| H3C12 Knockout HEK293 Cell Line | EDJ-KQ6208 | Human | 8356 | Details Get a Quote |
| H3C10 Knockout HEK293 Cell Line | EDJ-KQ6209 | Human | 8357 | Details Get a Quote |
| H3C14 Knockout HEK293 Cell Line | EDJ-KQ8253 | Human | 126961 | Details Get a Quote |
| H3C13 Knockout HEK293 Cell Line | EDJ-KQ13716 | Human | 653604 | Details Get a Quote |
| H3C15 Knockout HEK293 Cell Line | EDJ-KQ13717 | Human | 333932 | Details Get a Quote |
| H3C1 Knockout HCT 116 Cell Line | EDJ-KQ30040 | Human | 8350 | Details Get a Quote |
| H3C1 Knockout HeLa Cell Line | EDJ-KQ30041 | Human | 8350 | Details Get a Quote |
| H3C12 Knockout A-549 Cell Line | EDJ-KQ30044 | Human | 8356 | Details Get a Quote |
| H3C12 Knockout HCT 116 Cell Line | EDJ-KQ30045 | Human | 8356 | Details Get a Quote |
| H3C10 Knockout A-549 Cell Line | EDJ-KQ30046 | Human | 8357 | Details Get a Quote |
| H3C10 Knockout HCT 116 Cell Line | EDJ-KQ30047 | Human | 8357 | Details Get a Quote |
| H3C10 Knockout HeLa Cell Line | EDJ-KQ30048 | Human | 8357 | Details Get a Quote |
| H3C13 Knockout A-549 Cell Line | EDJ-KQ43454 | Human | 653604 | Details Get a Quote |
