H3C13: Histone H3.1, a Core Component of Nucleosomes
A replication-dependent histone gene encoding the H3.1 variant, essential for chromatin structure and epigenetic regulation.
Gene Information Card
| Symbol | H3C13 |
|---|---|
| Full Name | H3 clustered histone 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 653604 ncbi.nlm.nih.gov/gene/653604 |
| Ensembl ID | ENSG00000277775 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 20503 |
| Aliases | H3.1, H3/c, H3C1, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H3C10, H3C11, H3C12, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J |
Description
H3C13 is a replication-dependent histone gene that encodes histone H3.1, one of the core histone proteins that form the nucleosome. Histones H3, along with H2A, H2B, and H4, wrap DNA into chromatin. H3.1 is the canonical H3 variant expressed during S phase and is essential for chromatin assembly, gene regulation, and chromosome stability. Post-translational modifications of H3.1 (e.g., methylation, acetylation) play key roles in epigenetic signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pediatric glioblastoma | Somatic mutations in H3.1 (e.g., K27M) alter histone methylation patterns, leading to global hypomethylation and oncogenic transcriptional reprogramming. | PMID: 22286216, COSMIC |
| Diffuse intrinsic pontine glioma (DIPG) | Recurrent H3F3A and HIST1H3B/C mutations (K27M) drive tumorigenesis by inhibiting PRC2-mediated H3K27me3. | PMID: 22286216, ClinVar |
| Chondroblastoma | H3F3B mutations (K36M) are characteristic; H3C13 mutations are rare but may contribute to altered histone marks. | PMID: 23583981 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 38.7 | High |
| Lymph node | 32.1 | High |
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.3 | Cervical cancer cell line |
| K562 | 48.9 | Leukemia cell line |
| HepG2 | 35.6 | Hepatocellular carcinoma |
| A549 | 29.4 | Lung adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83A>T (p.Lys27Met) | Missense | Recurrent in pediatric glioblastoma/DIPG | Dominant negative; inhibits EZH2 activity, reducing H3K27me3 |
| c.109A>G (p.Lys36Glu) | Missense | Rare in chondroblastoma | Alters H3K36 methylation, affecting transcription elongation |
Mutation functional classification
Loss of Function (LOF)
Not typically observed; H3.1 is essential and loss is lethal.
Gain of Function (GOF)
K27M mutation confers a gain-of-function by globally reducing H3K27me3 through PRC2 inhibition.
Dominant Negative (DN)
K27M acts as a dominant-negative mutant by sequestering PRC2 and preventing methylation of wild-type H3.
View complete mutation data：
Gene Ontology (GO)
| • Nucleosome assembly (GO:0006334) | • Chromatin silencing (GO:0006342) |
| • DNA binding (GO:0003677) | • Protein heterodimerization activity (GO:0046982) |
| • Nucleus (GO:0005634) |
Pathways
• Chromatin organization (REACT:1788)
• Epigenetic regulation of gene expression (REACT:1789)
• PRC2-mediated methylation of histone H3 (REACT:1790)
Protein Summary
Histone H3.1 is a 136-amino acid core histone protein (UniProt P68431) that forms the nucleosome octamer together with H2A, H2B, and H4. It contains a histone-fold domain and an N-terminal tail subject to extensive post-translational modifications (e.g., acetylation at K9, K14, K18; methylation at K4, K9, K27, K36, K79). H3.1 is deposited during DNA replication and is critical for chromatin compaction and epigenetic inheritance. Mutations at K27 and K36 are oncogenic drivers in pediatric brain tumors and bone tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C13 Knockout HEK293 Cell Line | EDJ-KQ13716 | Human | 653604 | Details Get a Quote |
| H3C13 Knockout A-549 Cell Line | EDJ-KQ43454 | Human | 653604 | Details Get a Quote |
| H3C13 Knockout HCT 116 Cell Line | EDJ-KQ43455 | Human | 653604 | Details Get a Quote |
| H3C13 Knockout HeLa Cell Line | EDJ-KQ43456 | Human | 653604 | Details Get a Quote |
