• Gene id: 474382

Gene Summary

• Gene Symbol: H2AB1   Gene   UCSC   Ensembl
• Aliases: H2A.B, H2A.Bbd, H2AFB1
• Gene name: H2A.B variant histone 1
• Alternate names: histone H2A-Bbd type 1, H2A Barr body-deficient, H2A histone family member B1,
• Gene location: Xq28 (154884971: 154885557)     Exons: 1     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 301037

Protein Summary

• Protein general information: P0C5Y9  
  • Name: Histone H2A Bbd type 1 (H2A Barr body deficient) (H2A.B) (H2A.Bbd)
  • Length: 115  
  • Mass: 12697
  • Tissue specificity: Present in mature sperm. {ECO
• Sequence:

  MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYAQRLSRTAPVYLAAVIEYLTAKVPELAGNEA
  QNSGERNITPLLLDMVVHNDRLLSTLFNTTTISQVAPGED

• Structural information:
  • Interpro: IPR009072  IPR002119  
  • STRING: ENSP00000484261
• Other Databases: GeneCards:  H2AB1  Malacards:  H2AB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0035327	transcriptionally active chromatin	IDA	cellular component
GO:0006334	nucleosome assembly	IDA	biological process
GO:0000788	nuclear nucleosome	IDA	cellular component
GO:0006397	mRNA processing	IMP	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa04217	Necroptosis
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)