H2AC1 (Histone H2A Clustered Member 1)

A core histone protein gene involved in chromatin structure and gene regulation

Gene Information Card

Symbol H2AC1
Full Name H2A clustered histone 1
Gene Type protein-coding
Chromosomal Location 6p22.2
NCBI Gene ID 8326 ncbi.nlm.nih.gov/gene/8326
Ensembl ID ENSG00000274750
UniProt ID P0C0S8
OMIM ID 602786
HGNC ID 18765
Aliases HIST1H2AA, H2A histone family member A, H2A.1A

Description

H2AC1 (H2A clustered histone 1) is a protein-coding gene located on chromosome 6p22.2. It encodes a replication-dependent histone H2A protein, a core component of the nucleosome. Histone H2A plays a central role in chromatin structure and gene regulation by packaging DNA into nucleosomes. H2AC1 is part of the histone H2A family, which includes multiple variants with distinct functions. The protein contains a conserved histone fold domain and a C-terminal tail that is subject to post-translational modifications, influencing chromatin dynamics and gene expression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer Altered expression and mutations in histone H2A genes, including H2AC1, can disrupt chromatin structure and gene expression, contributing to tumorigenesis. COSMIC database lists somatic mutations in H2AC1 across various cancer types; ClinVar reports variants associated with oncogenic phenotypes.
Immunodeficiency Mutations in histone genes may affect immune cell development and function, though direct evidence for H2AC1 is limited. ClinVar includes variants in H2AC1 linked to immune-related conditions, but further studies are needed.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.3 High
Bone Marrow 8.7 Medium
Lymph Node 7.2 Medium
Spleen 6.5 Medium
Brain 2.1 Low
Cell Line Expression
Cell Line nTPM Notes
K562 15.4 High expression in leukemia cell line
HeLa 10.2 Moderate expression
A549 8.9 Moderate expression
HepG2 6.3 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1Val) Missense 0.01% Potential loss of start codon, affecting protein translation
c.100C>T (p.Arg34Cys) Missense 0.02% May alter histone fold domain, affecting nucleosome stability
c.200A>G (p.Lys67Arg) Missense 0.005% Possible impact on post-translational modification sites
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in H2AC1 are rare and may lead to reduced histone H2A availability, affecting chromatin assembly and gene regulation.

Gain of Function (GOF)

Gain-of-function mutations are not well characterized; some missense variants may alter histone-DNA interactions, potentially affecting chromatin dynamics.

Dominant Negative (DN)

Dominant-negative effects are possible if mutant H2A proteins incorporate into nucleosomes and disrupt chromatin structure, but evidence is limited.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/8326
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=H2AC1

Gene Ontology (GO)

• DNA binding • protein heterodimerization activity
• nucleosome assembly • chromatin organization
• nucleus • chromosome

Pathways

• Packaging Of Telomere Ends
• Chromatin organization
• Nucleosome assembly

Protein Summary

The H2AC1 protein is a 130-amino acid histone H2A variant that forms part of the nucleosome core. It contains a histone fold domain that mediates dimerization with histone H2B and interaction with DNA. The protein undergoes various post-translational modifications, including acetylation, methylation, and phosphorylation, which regulate chromatin structure and gene expression. H2AC1 is expressed in proliferating cells and is essential for DNA replication and repair.

Related Services

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Knock-in Tag
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Related Products

Product name Cat.No. Species Gene ID
H2AC11 Knockout HEK293 Cell Line EDJ-KQ6415 Human 8969 Details Get a Quote
H2AC1 Knockout HEK293 Cell Line EDJ-KQ8858 Human 221613 Details Get a Quote
H2AC19 Knockout HEK293 Cell Line EDJ-KQ13705 Human 723790 Details Get a Quote
H2AC11 Knockout A-549 Cell Line EDJ-KQ30458 Human 8969 Details Get a Quote
H2AC11 Knockout HCT 116 Cell Line EDJ-KQ30459 Human 8969 Details Get a Quote
H2AC11 Knockout HeLa Cell Line EDJ-KQ30460 Human 8969 Details Get a Quote
H2AC19 Knockout A-549 Cell Line EDJ-KQ43428 Human 723790 Details Get a Quote
H2AC19 Knockout HCT 116 Cell Line EDJ-KQ43429 Human 723790 Details Get a Quote
H2AC19 Knockout HeLa Cell Line EDJ-KQ43430 Human 723790 Details Get a Quote
H2AC13 Knockout HEK293 Cell Line EDJ-KQ50752 Human 8329 Details Get a Quote
H2AC15 Knockout HEK293 Cell Line EDJ-KQ50753 Human 8330 Details Get a Quote
H2AC16 Knockout HEK293 Cell Line EDJ-KQ50754 Human 8332 Details Get a Quote
H2AC17 Knockout HEK293 Cell Line EDJ-KQ50757 Human 8336 Details Get a Quote
H2AC12 Knockout HEK293 Cell Line EDJ-KQ51874 Human 85235 Details Get a Quote
H2AC13 Knockout HeLa Cell Line EDJ-KQ54857 Human 8329 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/8326
OMIM https://www.omim.org/entry/602786
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18765
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000274750
UniProt https://www.uniprot.org/uniprotkb/P0C0S8/entry
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC1
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=H2AC1
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