| Gene Symbol |
H2AFB1
|
| Entrez Gene |
474382
|
| Alt Symbol |
H2A.Bbd
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
H2A histone family, member B1
|
| Other Description |
H2A Barr body-deficient|histone H2A-Bbd type 1
|
| Swissprots |
A0PK90 P0C5Y9
|
| Accessions |
P0C5Y9 BC128034 AAI28035 CR542230 CAG47026 NM_001017990 NP_001017990
|
| Function |
Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. 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. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis. {ECO:0000269|PubMed:15257289, ECO:0000269|PubMed:16287874, ECO:0000269|PubMed:16957777, ECO:0000269|PubMed:17591702, ECO:0000269|PubMed:17726088, ECO:0000269|PubMed:18329190, ECO:0000269|PubMed:22795134}.
|
| Subcellular Location |
Nucleus. Chromosome. Note=Associated with the active X chromosome and with autosomes, while it is absent from the inactive X chromosome and excluded from Barr bodies.
|
| Tissue Specificity |
Present in mature sperm. {ECO:0000269|PubMed:20008104}.
|
| Top Pathways |
Systemic lupus erythematosus, Alcoholism
|