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H2AFB3 H2A histone family member B3 [ Homo sapiens (human) ]

Gene ID: 83740, updated on 17-Jun-2019

Summary

Official Symbol
H2AFB3provided by HGNC
Official Full Name
H2A histone family member B3provided by HGNC
Primary source
HGNC:HGNC:14455
See related
Ensembl:ENSG00000277745 MIM:300445
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H2AFB; H2ABBD
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 histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Oct 2015]
Orthologs

Genomic context

See H2AFB3 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155459419..155459935, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154689080..154689596, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene int22h-2 recombination region Neighboring gene microRNA 1184-2 Neighboring gene coagulation factor VIII associated 2 Neighboring gene int22h-3 recombination region Neighboring gene microRNA 1184-3 Neighboring gene TMLHE antisense RNA 1 Neighboring gene coagulation factor VIII associated 3 Neighboring gene trimethyllysine hydroxylase, epsilon Neighboring gene sprouty RTK signaling antagonist 3 Neighboring gene meiotic recombination hotspot PAR2A

Genomic regions, transcripts, and products

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat peptides bind core histones H2A, H2B, H3 and H4, and Tat protein recruits histone acetyltransferases to the HIV-1 LTR promoter leading to acetylation of histones H3 and H4, derepressing chromatin structure and increasing NFkappaB responsiveness PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear nucleosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone H2A-Bbd type 2/3
Names
H2A Barr body-deficient
H2A.Bbd
histone variant H2A, Barr-body deficient

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_080720.1NP_542451.1  histone H2A-Bbd type 2/3

    See identical proteins and their annotated locations for NP_542451.1

    Status: REVIEWED

    Source sequence(s)
    AF254576
    Consensus CDS
    CCDS35464.1
    UniProtKB/Swiss-Prot
    P0C5Z0
    Related
    ENSP00000482564.1, ENST00000615853.1
    Conserved Domains (1) summary
    smart00414
    Location:21113
    H2A; Histone 2A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    155459419..155459935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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