H2BC1 (H2B clustered histone 1)

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

Gene

• Entrez ID: 255626
• Gene name: H2B clustered histone 1
• Gene symbol: H2BC1
• Synonyms (NCBI Gene): H2BFU, HIST1H2BA, STBP, TH2B, TSH2B, TSH2B.1, bA317E16.3, hTSH2B
• Chromosome: 6
• Chromosome location: 6p22.2
• 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 (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000786	Component	Nucleosome	IDA	24699735
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	ISS
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IDA	24699735
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006334	Process	Nucleosome assembly	ISS
GO:0006337	Process	Nucleosome disassembly	IEA
GO:0006337	Process	Nucleosome disassembly	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0009986	Component	Cell surface	IEA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031639	Process	Plasminogen activation	IEA
GO:0035092	Process	Sperm DNA condensation	IEA
GO:0035092	Process	Sperm DNA condensation	ISS
GO:0042393	Function	Histone binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0071674	Process	Mononuclear cell migration	IEA

Other IDs

• MIM: 609904
• HGNC: 18730
• e!Ensembl: ENSG00000146047

Protein

• UniProt ID: Q96A08
• Protein name: Histone H2B type 1-A (Histone H2B, testis) (TSH2B.1) (hTSH2B) (Testis-specific histone H2B)
• Protein function: Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells (By similarity). Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as
• PDB: 3WKJ , 5GSU , 5GT3 , 6BIY , 8VLR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	2 → 103	Core histone H2A/H2B/H3/H4	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in testis, and the corresponding protein is also present in mature sperm (at protein level). Also found in some fat cells. {ECO:0000269|PubMed:12213818, ECO:0000269|PubMed:21249133}.
• Sequence:

  MPEVSSKGATISKKGFKKAVVKTQKKEGKKRKRTRKESYSIYIYKVLKQVHPDTGISSKA
  MSIMNSFVTDIFERIASEASRLAHYSKRSTISSREIQTAVRLLLPGELAKHAVSEGTKAV
  TKYTSSK

• Sequence length: 127

Pathways

KEGG Pathway	Reactome Pathway
Neutrophil extracellular trap formation	Recognition and association of DNA glycosylase with site containing an affected purine
Alcoholism	Cleavage of the damaged purine
Viral carcinogenesis	Packaging Of Telomere Ends
Systemic lupus erythematosus	Formation of the beta-catenin:TCF transactivating complex
	PRC2 methylates histones and DNA
	Condensation of Prophase Chromosomes
	Oxidative Stress Induced Senescence
	Senescence-Associated Secretory Phenotype (SASP)
	DNA Damage/Telomere Stress Induced Senescence
	HDACs deacetylate histones
	HATs acetylate histones
	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
	Ub-specific processing proteases
	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
	Nonhomologous End-Joining (NHEJ)
	Processing of DNA double-strand break ends
	Deposition of new CENPA-containing nucleosomes at the centromere
	G2/M DNA damage checkpoint
	RNA Polymerase I Promoter Opening
	RNA Polymerase I Promoter Escape
	E3 ubiquitin ligases ubiquitinate target proteins
	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
	Estrogen-dependent gene expression
	HCMV Early Events
	HCMV Late Events
	Amyloid fiber formation

Related Genes

Sort by: Blended Diseases Pathways Evidence source

H2BC5 34 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Viral carcinogenesis, Systemic lupus erythematosus, Ub-specific processing proteases, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, HCMV Late Events, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +22 more Related via 34 shared pathways including Neutrophil extracellular trap formation, Alcoholism. H2BC3 34 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Viral carcinogenesis, Systemic lupus erythematosus, Ub-specific processing proteases, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, HCMV Late Events, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +22 more Related via 34 shared pathways including Neutrophil extracellular trap formation, Alcoholism. H2BC8 34 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Viral carcinogenesis, Systemic lupus erythematosus, Ub-specific processing proteases, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, HCMV Late Events, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +22 more Related via 34 shared pathways including Neutrophil extracellular trap formation, Alcoholism. H2BC13 34 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Viral carcinogenesis, Systemic lupus erythematosus, Ub-specific processing proteases, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, HCMV Late Events, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +22 more Related via 34 shared pathways including Neutrophil extracellular trap formation, Alcoholism. H2BC15 34 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Viral carcinogenesis, Systemic lupus erythematosus, Ub-specific processing proteases, Condensation of Prophase Chromosomes, Deposition of new CENPA-containing nucleosomes at the centromere, HCMV Late Events, Oxidative Stress Induced Senescence, Amyloid fiber formation, DNA Damage/Telomere Stress Induced Senescence, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +22 more Related via 34 shared pathways including Neutrophil extracellular trap formation, Alcoholism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
H2BC5	0	[]	34	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]
H2BC3	0	[]	34	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]
H2BC8	0	[]	34	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]
H2BC13	0	[]	34	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]
H2BC15	0	[]	34	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]

Diseases Linked via Similar Genes

Schizophrenia Linked via 2 of 5 related genesH2BC8, H2BC15 Major depressive disorder Linked via 2 of 5 related genesH2BC13, H2BC15 Duodenal ulcer Linked via 1 of 5 related genesH2BC5 Insomnia Linked via 1 of 5 related genesH2BC5 Prostate cancer Linked via 1 of 5 related genesH2BC5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	2	["H2BC8","H2BC15"]
Major depressive disorder	2	["H2BC13","H2BC15"]
Duodenal ulcer	1	["H2BC5"]
Insomnia	1	["H2BC5"]
Prostate cancer	1	["H2BC5"]