| Gene Symbol |
H2AFB3
|
| Entrez Gene |
83740
|
| Alt Symbol |
H2ABBD, H2AFB
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
H2A histone family, member B3
|
| Other Description |
H2A Barr body-deficient|H2A.Bbd|histone H2A-Bbd type 2/3|histone variant H2A, Barr-body deficient
|
| Swissprots |
Q96PR7 P98176 A1L4E4 P0C5Z0 Q6FG78 Q5TZB2
|
| Accessions |
CAA59998 EAW72649 P0C5Z0 AF254576 AAL01652 BC101409 AAI01410 BC101415 AAI01416 BC101417 AAI01418 BC101418 AAI01419 BC130510 AAI30511 BC130512 AAI30513 BC134365 AAI34366 HQ258044 ADR82798 NM_080720 NP_542451
|
| 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
|
