H2AB1 (H2A.B variant histone 1)

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

Gene

• Entrez ID: 474382
• Gene name: H2A.B variant histone 1
• Gene symbol: H2AB1
• Synonyms (NCBI Gene): H2A.B, H2A.B.2, H2A.Bbd, H2AFB1
• Chromosome: X
• Chromosome location: Xq28
• 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 (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IDA	22795134
GO:0000786	Component	Nucleosome	IEA
GO:0000791	Component	Euchromatin	IDA	22795134
GO:0000791	Component	Euchromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006334	Process	Nucleosome assembly	IDA	22795134
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	IMP	22795134
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0046982	Function	Protein heterodimerization activity	IEA

Other IDs

• MIM: 301037
• HGNC: 22516
• e!Ensembl: ENSG00000274183

Protein

• UniProt ID: P0C5Y9
• Protein name: Histone H2A-Bbd type 1 (H2A Barr body-deficient) (H2A.B) (H2A.Bbd)
• Protein function: Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing (PubMed:22795134). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cel
• Tissue specificity: TISSUE SPECIFICITY: Present in mature sperm. {ECO:0000269|PubMed:20008104}.
• Sequence:

  MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYAQRLSRTAPVYLAAVI
  EYLTAKVPELAGNEAQNSGERNITPLLLDMVVHNDRLLSTLFNTTTISQVAPGED

• Sequence length: 115

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

H2AZ1 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
H2AZ1	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"]