Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with... See more...

Aliases for H2AZ1 Gene

Aliases for H2AZ1 Gene

  • H2A.Z Variant Histone 1 2 3
  • H2A Histone Family Member Z 2 3 5
  • H2AFZ 3 4 5
  • Histone H2A.Z 3 4
  • H2A/Z 3 4
  • H2AZ 3 4
  • H2A Histone Family, Member Z 2
  • H2AZ Histone 3
  • H2A.Z-1 3
  • H2A.Z 3

External Ids for H2AZ1 Gene

Previous HGNC Symbols for H2AZ1 Gene

  • H2AZ
  • H2AFZ

Summaries for H2AZ1 Gene

Entrez Gene Summary for H2AZ1 Gene

  • Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]

GeneCards Summary for H2AZ1 Gene

H2AZ1 (H2A.Z Variant Histone 1) is a Protein Coding gene. Diseases associated with H2AZ1 include Testicular Spermatocytic Seminoma. Among its related pathways are Signaling by Wnt and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AZ2.

UniProtKB/Swiss-Prot Summary for H2AZ1 Gene

  • Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.

Gene Wiki entry for H2AZ1 Gene

Additional gene information for H2AZ1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AZ1 Gene

Genomics for H2AZ1 Gene

GeneHancer (GH) Regulatory Elements for H2AZ1 Gene

Promoters and enhancers for H2AZ1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AZ1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AZ1

Genomic Locations for H2AZ1 Gene

Genomic Locations for H2AZ1 Gene
chr4:99,948,086-99,950,355
(GRCh38/hg38)
Size:
2,270 bases
Orientation:
Minus strand
chr4:100,869,243-100,871,545
(GRCh37/hg19)
Size:
2,303 bases
Orientation:
Minus strand

Genomic View for H2AZ1 Gene

Genes around H2AZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AZ1 Gene

Proteins for H2AZ1 Gene

  • Protein details for H2AZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0S5-H2AZ_HUMAN
    Recommended name:
    Histone H2A.Z
    Protein Accession:
    P0C0S5
    Secondary Accessions:
    • B2RD56
    • P17317
    • Q6I9U0

    Protein attributes for H2AZ1 Gene

    Size:
    128 amino acids
    Molecular mass:
    13553 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. H2A or its variant H2AZ1 forms a heterodimer with H2B. H2AZ1 interacts with INCENP (By similarity). Interacts (via M6 cassette) with ANP32E; leading to removal of H2A.Z/H2AZ1 from the nucleosome. Heterodimer H2BC11 and H2AZ1 interacts with VPS72 (via N-terminal domain) (PubMed:26974126). Interacts with PWWP2A (PubMed:28645917). Interacts with FH (when phosphorylated by PRKDC) (PubMed:26237645).

    Three dimensional structures from OCA and Proteopedia for H2AZ1 Gene

neXtProt entry for H2AZ1 Gene

Post-translational modifications for H2AZ1 Gene

  • Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.
  • Acetylated on Lys-5, Lys-8, Lys-12 and Lys-14 by KAT2A; KAT2A is recruited by the XPC complex in absence of DNA damage (PubMed:31527837). Acetylated on Lys-5, Lys-8 and Lys-12 during interphase; acetylation disappears at mitosis (By similarity).
  • Monomethylated on Lys-5 and Lys-8 by SETD6. SETD6 predominantly methylates Lys-8, lys-5 being a possible secondary site.
  • Not phosphorylated.
  • Ubiquitination at Lys122
  • Modification sites at PhosphoSitePlus

Other Protein References for H2AZ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for H2AZ1 Gene

Domains & Families for H2AZ1 Gene

Gene Families for H2AZ1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for H2AZ1 Gene

Suggested Antigen Peptide Sequences for H2AZ1 Gene

GenScript: Design optimal peptide antigens:
  • Histone H2A.Z (H2AZ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C0S5

UniProtKB/Swiss-Prot:

H2AZ_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AZ1: view

Function for H2AZ1 Gene

Molecular function for H2AZ1 Gene

UniProtKB/Swiss-Prot Function:
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.

Gene Ontology (GO) - Molecular Function for H2AZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19834540
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 19633671
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 19633671
GO:0003677 DNA binding IBA 21873635
GO:0005515 protein binding IPI 20473270
genes like me logo Genes that share ontologies with H2AZ1: view
genes like me logo Genes that share phenotypes with H2AZ1: view

Animal Models for H2AZ1 Gene

MGI Knock Outs for H2AZ1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for H2AZ1 Gene

Localization for H2AZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AZ1 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H2AZ1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for H2AZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA 21873635
GO:0001740 NOT Barr body IDA 11331621
GO:0005634 nucleus IDA 11331621
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with H2AZ1: view

Pathways & Interactions for H2AZ1 Gene

PathCards logo

SuperPathways for H2AZ1 Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence (REACTOME)
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
.60
5 DNA Damage/Telomere Stress Induced Senescence
.38
genes like me logo Genes that share pathways with H2AZ1: view

Pathways by source for H2AZ1 Gene

SIGNOR curated interactions for H2AZ1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for H2AZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0045944 positive regulation of transcription by RNA polymerase II IMP 19834540
GO:0071392 cellular response to estradiol stimulus IMP 23637611
genes like me logo Genes that share ontologies with H2AZ1: view

Drugs & Compounds for H2AZ1 Gene

No Compound Related Data Available

Transcripts for H2AZ1 Gene

mRNA/cDNA for H2AZ1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AZ1 Gene

No ASD Table

Relevant External Links for H2AZ1 Gene

GeneLoc Exon Structure for
H2AZ1

Expression for H2AZ1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AZ1

SOURCE GeneReport for Unigene cluster for H2AZ1 Gene:

Hs.119192

Evidence on tissue expression from TISSUES for H2AZ1 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Muscle(4.3)
  • Skin(4.2)
  • Liver(4.1)
  • Eye(3.6)
  • Lung(3.3)
  • Intestine(2.5)
  • Bone marrow(2.2)
  • Heart(2.2)
  • Stomach(2.2)
  • Lymph node(2.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AZ1 Gene

Orthologs for H2AZ1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFZ 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 99 (a)
OneToMany
H2AFZ 30
  • 97.4 (n)
-- 31
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia H2AFZ 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia H2AFZ 31 30
  • 97.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2afz 31 30
  • 94.79 (n)
OneToOne
H2az1 17
rat
(Rattus norvegicus)
Mammalia H2afz 30
  • 94.27 (n)
chicken
(Gallus gallus)
Aves H2AFZ 31 30
  • 84.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFZ 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afz 30
  • 76.3 (n)
Str.6600 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53404 30
zebrafish
(Danio rerio)
Actinopterygii h2afvb 30
  • 76.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8307 30
fruit fly
(Drosophila melanogaster)
Insecta His2Av 31
  • 85 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea htz-1 31
  • 74 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTZ1 31
  • 61 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HTA9 30
  • 64.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7971 31
  • 83 (a)
OneToMany
Species where no ortholog for H2AZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for H2AZ1 Gene

ENSEMBL:
Gene Tree for H2AZ1 (if available)
TreeFam:
Gene Tree for H2AZ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AZ1: view image

Paralogs for H2AZ1 Gene

Variants for H2AZ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2AZ1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
691353 Uncertain Significance: Pyloric stenosis; Esophageal atresia 99,948,830(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for H2AZ1 Gene

Structural Variations from Database of Genomic Variants (DGV) for H2AZ1 Gene

Variant ID Type Subtype PubMed ID
esv25894 CNV loss 19812545
nsv594944 CNV loss 21841781
nsv822668 CNV gain 20364138
nsv967776 CNV duplication 23825009

Variation tolerance for H2AZ1 Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AZ1 Gene

Disorders for H2AZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for H2AZ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
testicular spermatocytic seminoma
  • spermatocytic seminoma
- elite association - COSMIC cancer census association via MalaCards
Search H2AZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for H2AZ1

genes like me logo Genes that share disorders with H2AZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AZ1 Gene

Publications for H2AZ1 Gene

  1. Characterization of histone H2A and H2B variants and their post-translational modifications by mass spectrometry. (PMID: 16319397) Bonenfant D … van Oostrum J (Molecular & cellular proteomics : MCP 2006) 3 4 23 54
  2. Transcription-induced chromatin remodeling at the c-myc gene involves the local exchange of histone H2A.Z. (PMID: 15878876) Farris SD … Krumm A (The Journal of biological chemistry 2005) 3 4 23 54
  3. The human histone H2A.Z gene. Sequence and regulation. (PMID: 1697587) Hatch CL … Bonner WM (The Journal of biological chemistry 1990) 2 3 4 54
  4. Multivalent binding of PWWP2A to H2A.Z regulates mitosis and neural crest differentiation. (PMID: 28645917) Pünzeler S … Hake SB (The EMBO journal 2017) 3 4 54
  5. Molecular basis and specificity of H2A.Z-H2B recognition and deposition by the histone chaperone YL1. (PMID: 26974126) Latrick CM … Hamiche A (Nature structural & molecular biology 2016) 3 4 54

Products for H2AZ1 Gene

Sources for H2AZ1 Gene