H2AZ1 (H2A.Z variant histone 1)

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Gene Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3015
• Gene name: H2A.Z variant histone 1
• Gene symbol: H2AZ1
• Synonyms (NCBI Gene): H2A.Z-1, H2A.z, H2A/z, H2AFZ, H2AZ
• Chromosome: 4
• Chromosome location: 4q23
• Summary: 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 hi

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	IPI	24311584
GO:0000791	Component	Euchromatin	IDA	19834540, 23637611
GO:0000792	Component	Heterochromatin	IDA	19834540
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19633671, 19834540, 23637611
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	19633671, 23637611
GO:0001740	Component	Barr body	IDA	11331621
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20473270, 22720776, 24463511, 26237645, 26974126, 28645917, 30021884, 31527837, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11331621, 16319397, 16457589, 22720776
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	NAS	31790919
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	19834540, 23637611
GO:0031492	Function	Nucleosomal DNA binding	IDA	19633671
GO:0031507	Process	Heterochromatin formation	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19834540, 23637611
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071392	Process	Cellular response to estradiol stimulus	IMP	23637611

Other IDs

• MIM: 142763
• HGNC: 4741
• e!Ensembl: ENSG00000164032

Protein

• UniProt ID: P0C0S5
• Protein name: Histone H2A.Z (H2A/z)
• Protein 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 cent
• PDB: 1F66 , 3WA9 , 4CAY , 4NFT , 5B31 , 5B32 , 5B33 , 5CHL , 5FUG , 5Z30 , 6JOU , 6KO2 , 7YRD , 7YRG , 8JHF , 8T9F , 8THU , 9C62
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	4 → 94	Core histone H2A/H2B/H3/H4	Domain
  PF16211	Histone_H2A_C	95 → 127	C-terminus of histone H2A	Family

• Sequence:

  MAGGKAGKDSGKAKTKAVSRSQRAGLQFPVGRIHRHLKSRTTSHGRVGATAAVYSAAILE
  YLTAEVLELAGNASKDLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIG
  KKGQQKTV

• Sequence length: 128

Pathways

KEGG Pathway	Reactome Pathway
ATP-dependent chromatin remodeling	Recognition and association of DNA glycosylase with site containing an affected purine
Necroptosis	Cleavage of the damaged purine
Neutrophil extracellular trap formation	Packaging Of Telomere Ends
Alcoholism	Formation of the beta-catenin:TCF transactivating complex
Systemic lupus erythematosus	PRC2 methylates histones and DNA
	Condensation of Prophase Chromosomes
	Oxidative Stress Induced Senescence
	Senescence-Associated Secretory Phenotype (SASP)
	DNA Damage/Telomere Stress Induced Senescence
	RMTs methylate histone arginines
	SIRT1 negatively regulates rRNA expression
	NoRC negatively regulates rRNA expression
	B-WICH complex positively regulates rRNA expression
	Transcriptional regulation by small RNAs
	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
	Deposition of new CENPA-containing nucleosomes at the centromere
	RNA Polymerase I Promoter Opening
	RNA Polymerase I Promoter Escape
	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
	Estrogen-dependent gene expression
	Amyloid fiber formation

Related Genes

Sort by: Blended Diseases Pathways Evidence source

H2AB1 26 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), RMTs methylate histone arginines +14 more Related via 26 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AJ 25 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, Oxidative Stress Induced Senescence, DNA Damage/Telomere Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), RMTs methylate histone arginines, RNA Polymerase I Promoter Escape +13 more Related via 25 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AZ2 25 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, Oxidative Stress Induced Senescence, DNA Damage/Telomere Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), RMTs methylate histone arginines, RNA Polymerase I Promoter Escape +13 more Related via 25 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AX 26 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), RMTs methylate histone arginines +14 more Related via 26 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AC8 26 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), RMTs methylate histone arginines +14 more Related via 26 shared pathways including ATP-dependent chromatin remodeling, Necroptosis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
H2AB1	0	[]	26	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Senescence-Associated Secretory Phenotype (SASP)","RMTs methylate histone arginines"]	0	[]
H2AJ	0	[]	25	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","Oxidative Stress Induced Senescence","DNA Damage\/Telomere Stress Induced Senescence","Senescence-Associated Secretory Phenotype (SASP)","RMTs methylate histone arginines","RNA Polymerase I Promoter Escape"]	0	[]
H2AZ2	0	[]	25	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","Oxidative Stress Induced Senescence","DNA Damage\/Telomere Stress Induced Senescence","Senescence-Associated Secretory Phenotype (SASP)","RMTs methylate histone arginines","RNA Polymerase I Promoter Escape"]	0	[]
H2AX	0	[]	26	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Senescence-Associated Secretory Phenotype (SASP)","RMTs methylate histone arginines"]	0	[]
H2AC8	0	[]	26	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Senescence-Associated Secretory Phenotype (SASP)","RMTs methylate histone arginines"]	0	[]

Diseases Linked via Similar Genes

Autism Linked via 1 of 5 related genesH2AZ2 Clonal hematopoiesis Linked via 1 of 5 related genesH2AZ2 Breast neoplasms Linked via 1 of 5 related genesH2AX Glioblastoma Linked via 1 of 5 related genesH2AX Schizophrenia Linked via 1 of 5 related genesH2AX

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	1	["H2AZ2"]
Clonal hematopoiesis	1	["H2AZ2"]
Breast neoplasms	1	["H2AX"]
Glioblastoma	1	["H2AX"]
Schizophrenia	1	["H2AX"]