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Protein

Histone H2A-Bbd type 1

Gene

H2AFB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing (PubMed:22795134). 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 (PubMed:15257289, PubMed:16287874, PubMed:16957777, PubMed:17591702, PubMed:17726088, PubMed:18329190, PubMed:22795134). Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo (PubMed:15257289, PubMed:16957777, PubMed:17591702, PubMed:24336483). They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase (PubMed:17591702, PubMed:24753410). They associate with spliceosome components and are required for mRNA splicing (PubMed:22795134).9 Publications

Miscellaneous

In contrast to other H2A histones, it does not contain the conserved residues that are the target of post-translational modifications.Curated

Caution

Although related to variant histone H2AFB1 in mouse (AC Q9CQ70), it is unclear whether human and mouse H2AFB1 proteins are involved in similar processes. In mouse, variant histone H2AFB1 is specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells during spermatogenesis. It is however unclear whether human protein, which participates to mRNA processing and is associated with active transcription, is also involved in nucleosomes to protamine replacement (PubMed:22795134).1 Publication

GO - Molecular functioni

GO - Biological processi

  • chromatin silencing Source: GO_Central
  • mRNA processing Source: UniProtKB
  • nucleosome assembly Source: UniProtKB

Keywordsi

Molecular functionDNA-binding
Biological processmRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-212300 PRC2 methylates histones and DNA
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP)
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-427359 SIRT1 negatively regulates rRNA expression
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-5334118 DNA methylation
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5625886 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-73728 RNA Polymerase I Promoter Opening
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-912446 Meiotic recombination
R-HSA-977225 Amyloid fiber formation

Names & Taxonomyi

Protein namesi
Recommended name:
Histone H2A-Bbd type 1Curated
Alternative name(s):
H2A Barr body-deficient1 Publication
Short name:
H2A.B1 Publication
Short name:
H2A.Bbd1 Publication
Gene namesi
Name:H2AFB1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000274183.1
HGNCiHGNC:22516 H2AFB1
MIMi300445 gene
neXtProtiNX_P0C5Y9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleosome core, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134862083

Polymorphism and mutation databases

BioMutaiH2AFB1
DMDMi161784332

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003128051 – 115Histone H2A-Bbd type 1Add BLAST115

Proteomic databases

PaxDbiP0C5Y9
PeptideAtlasiP0C5Y9
PRIDEiP0C5Y9

PTM databases

iPTMnetiP0C5Y9
PhosphoSitePlusiP0C5Y9

Expressioni

Tissue specificityi

Present in mature sperm.1 Publication

Gene expression databases

BgeeiENSG00000274183
CleanExiHS_H2AFB1
GenevisibleiP0C5Y9 HS

Interactioni

Subunit structurei

The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. May be incorporated into a proportion of nucleosomes, replacing one or more H2A molecules.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi138883, 2 interactors
STRINGi9606.ENSP00000346450

Structurei

3D structure databases

ProteinModelPortaliP0C5Y9
SMRiP0C5Y9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni87 – 115Docking domain1 PublicationAdd BLAST29

Domaini

The docking domain is responsible for the weaker heterodimerization with H2B.1 Publication

Sequence similaritiesi

Belongs to the histone H2A family.Curated

Phylogenomic databases

eggNOGiKOG1756 Eukaryota
COG5262 LUCA
GeneTreeiENSGT00910000143981
HOGENOMiHOG000234652
HOVERGENiHBG009342
InParanoidiP0C5Y9
KOiK11251
OMAiDNAPIYL
OrthoDBiEOG091G15D9
PhylomeDBiP0C5Y9
TreeFamiTF300137

Family and domain databases

Gene3Di1.10.20.10, 1 hit
InterProiView protein in InterPro
IPR009072 Histone-fold
IPR002119 Histone_H2A
PRINTSiPR00620 HISTONEH2A
SMARTiView protein in SMART
SM00414 H2A, 1 hit
SUPFAMiSSF47113 SSF47113, 1 hit

Sequencei

Sequence statusi: Complete.

P0C5Y9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPRRRRRRGS SGAGGRGRTC SRTVRAELSF SVSQVERSLR EGHYAQRLSR
60 70 80 90 100
TAPVYLAAVI EYLTAKVPEL AGNEAQNSGE RNITPLLLDM VVHNDRLLST
110
LFNTTTISQV APGED
Length:115
Mass (Da):12,697
Last modified:December 4, 2007 - v1
Checksum:i57CA60C8C2F5744B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109Q → K in AAI28035 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X86012 Genomic DNA Translation: CAA59998.1
CR542230 mRNA Translation: CAG47026.1
BX842559 Genomic DNA No translation available.
BC128034 mRNA Translation: AAI28035.1
CCDSiCCDS35458.1
PIRiI37901
RefSeqiNP_001017990.1, NM_001017990.1
UniGeneiHs.534498
Hs.592246
Hs.632841

Genome annotation databases

EnsembliENST00000620016; ENSP00000484261; ENSG00000274183
GeneIDi474382
KEGGihsa:474382
UCSCiuc004fmu.5 human

Similar proteinsi

Entry informationi

Entry nameiH2AB1_HUMAN
AccessioniPrimary (citable) accession number: P0C5Y9
Secondary accession number(s): A0PK90
, P98176, Q5TZB2, Q6FG78, Q96PR7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: March 28, 2018
This is version 96 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health