H2A.Z Variant Histone 1
Histone H2A.Z, a key regulator of chromatin structure and gene expression
Gene Information Card
| Symbol | H2AZ1 |
|---|---|
| Full Name | H2A.Z variant histone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 3015 ncbi.nlm.nih.gov/gene/3015 |
| Ensembl ID | ENSG00000164032 |
| UniProt ID | P0C0S5 |
| OMIM ID | 142763 |
| HGNC ID | 4741 |
| Aliases | H2A.Z, H2AFZ, H2A.Z-1 |
Description
H2AZ1 encodes histone H2A.Z, a highly conserved variant of the canonical histone H2A. H2A.Z is incorporated into nucleosomes in a replication-independent manner and plays critical roles in transcriptional regulation, chromatin remodeling, DNA repair, and chromosome segregation. It is essential for embryonic development and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H2A.Z deposition affects gene expression programs promoting oncogenesis | PMID: 25699753, COSMIC |
| Developmental disorders | Mutations in H2AZ1 disrupt chromatin dynamics during embryogenesis | PMID: 31073040 |
| Neurodegenerative diseases | Dysregulation of H2A.Z in neurons linked to impaired synaptic plasticity | PMID: 29377088 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Bone marrow | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.5 | Low |
| Heart | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Ubiquitous expression |
| K562 | 19.8 | High in leukemia line |
| HEK293 | 15.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Glu34Lys) | Missense | <0.01% | Altered nucleosome stability |
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Impaired H2A.Z deposition |
| c.301_303del (p.Lys101del) | In-frame deletion | <0.01% | Disrupted chromatin binding |
Mutation functional classification
Loss of Function (LOF)
Reduced incorporation into nucleosomes, leading to chromatin instability and altered gene expression.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance H2A.Z retention at specific loci.
Dominant Negative (DN)
Mutant H2A.Z can interfere with wild-type incorporation, disrupting chromatin architecture.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin remodeling |
| • DNA repair | • transcriptional regulation |
| • chromosome segregation |
Pathways
• Chromatin organization
• Nucleosome assembly
• Epigenetic regulation of gene expression
Protein Summary
Histone H2A.Z is a 128-amino acid protein that forms part of the nucleosome core. It differs from canonical H2A in key residues that influence nucleosome stability and interactions with chromatin modifiers. H2A.Z is deposited into chromatin by specific chaperone complexes (e.g., SRCAP, p400/Tip60) and is enriched at promoter regions, enhancers, and sites of DNA damage. Its acetylation and ubiquitination regulate transcriptional activation and repression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AZ1 Knockout HEK293 Cell Line | EDJ-KQ4833 | Human | 3015 | Details Get a Quote |
| H2AZ1 Knockout HeLa Cell Line | EDJ-KQ26398 | Human | 3015 | Details Get a Quote |
| H2AZ1 Knockout A-549 Cell Line | EDJ-KQ27615 | Human | 3015 | Details Get a Quote |
| H2AZ1 Knockout HCT 116 Cell Line | EDJ-KQ27616 | Human | 3015 | Details Get a Quote |
