H3C10

Histone H3.1, a core component of nucleosomes involved in chromatin structure and gene regulation

Gene Information Card

Symbol H3C10
Full Name H3 clustered histone 10
Gene Type protein-coding
Chromosomal Location 6p22.1
NCBI Gene ID 8358 ncbi.nlm.nih.gov/gene/8358
Ensembl ID ENSG00000277734
UniProt ID P68431
OMIM ID 602810
HGNC ID 4764
Aliases H3.1, H3C10, HIST1H3A, H3FA

Description

H3C10 encodes histone H3.1, a core histone protein that forms the nucleosome with histones H2A, H2B, and H4. Histone H3.1 is a replication-dependent variant expressed during S phase and is essential for chromatin packaging, DNA replication, and transcriptional regulation. Post-translational modifications of H3.1, such as methylation and acetylation, regulate gene expression and chromatin state.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Pediatric glioblastoma Recurrent H3F3A (H3.3) mutations are common; H3C10 (H3.1) mutations are rare but reported in diffuse intrinsic pontine glioma (DIPG) with K27M substitution PMID: 22286216
Diffuse intrinsic pontine glioma (DIPG) H3.1 K27M mutation alters histone methylation and gene expression PMID: 22286216
Breast cancer Overexpression and altered H3.1 modification patterns linked to tumor progression PMID: 25686104

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
Cell Line Expression
Cell Line nTPM Notes
HeLa 52.3 Cervical cancer cell line
K562 48.9 Leukemia cell line
HEK293 41.5 Embryonic kidney cell line
MCF7 35.2 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
K27M Missense Rare in H3C10; common in H3F3A Alters H3K27me3, drives oncogenesis in DIPG
G34R/V Missense Rare Associated with pediatric glioblastoma
Mutation functional classification

Loss of Function (LOF)

Not well characterized; H3.1 loss is lethal in cells

Gain of Function (GOF)

K27M acts as a dominant inhibitor of PRC2, reducing H3K27me3

Dominant Negative (DN)

K27M mutation disrupts normal histone modification patterns

Pathways

• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
• HDACs deacetylate histones (Reactome: R-HSA-3214815)

Protein Summary

Histone H3.1 (UniProt P68431) is a 136-amino acid core histone protein that forms the nucleosome octamer. It is highly conserved and undergoes numerous post-translational modifications including acetylation, methylation, and phosphorylation. H3.1 is replication-dependent and expressed during S phase. Mutations at lysine 27 (K27M) are oncogenic in pediatric gliomas.

Related Products

Product name Cat.No. Species Gene ID
H3C10 Knockout HEK293 Cell Line EDJ-KQ6209 Human 8357 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
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