Aliases for H2BS1 Gene

Aliases for H2BS1 Gene

  • H2B.S Histone 1 2 3
  • H2B Histone Family Member S 2 3 5
  • Histone H2B Type F-S 3 4
  • Histone H2B.S 3 4
  • H2BFS 3 5
  • H2B/S 3 4
  • H2B Histone Family, Member S (Pseudogene) 2
  • H2B Histone Family Member S (Pseudogene) 2
  • H2B Histone Family, Member S 2
  • Histone Protein 3

External Ids for H2BS1 Gene

Previous HGNC Symbols for H2BS1 Gene

  • H2BFS

Summaries for H2BS1 Gene

GeneCards Summary for H2BS1 Gene

H2BS1 (H2B.S Histone 1) is a Protein Coding gene. Diseases associated with H2BS1 include Autosomal Recessive Alport Syndrome and Endometrial Stromal Sarcoma. Among its related pathways are DNA Damage/Telomere Stress Induced Senescence. An important paralog of this gene is LOC102724334.

UniProtKB/Swiss-Prot Summary for H2BS1 Gene

  • Core component of nucleosome. 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. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
  • Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.

Gene Wiki entry for H2BS1 Gene

Additional gene information for H2BS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2BS1 Gene

Genomics for H2BS1 Gene

GeneHancer (GH) Regulatory Elements for H2BS1 Gene

Promoters and enhancers for H2BS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J043565 Promoter 0.6 Ensembl 500.7 +0.6 618 1.6 ZNF585B ZNF707 SPI1 H2BS1 piR-30658-002 piR-45532-002 PWP2 PDXK TRAPPC10 WDR4 RRP1B ENSG00000184441 SIK1
GH21J043724 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 +167.8 167825 17.6 HNRNPK ZBTB40 EP300 CTCF SIN3A NRF1 MYC TCF12 POLR2G USF1 PDXK WDR4 ENSG00000233754 RRP1B PWP2 U2AF1 HSF2BP TRPM2 TRAPPC10 ENSG00000213440
GH21J043595 Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.3 +39.9 39928 20.2 ZNF217 CTCF TCF12 ZNF300 POLR2G JUND FOS ZNF639 ZNF354C ZIC2 RRP1B WDR4 ENSG00000184441 U2AF1 ENSG00000233754 PWP2 HSF2BP SIK1 PDXK TRAPPC10
GH21J043718 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6 +155.2 155176 4.7 SIN3A POLR2G FOS ZIC2 POLR2A ZBTB10 CLOCK ZBTB11 ZNF423 ZBTB26 PDXK lnc-RRP1B-1 WDR4 U2AF1 ENSG00000184441 RRP1B ENSG00000233754 PKNOX1 CFAP410 ENSG00000213440
GH21J043722 Promoter/Enhancer 0.6 Ensembl dbSUPER 5.1 +157.7 157719 0.2 ZNF121 lnc-RRP1B-1 piR-57461-137 H2BS1 PDXK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2BS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2BS1

Genomic Locations for H2BS1 Gene

Genomic Locations for H2BS1 Gene
chr21:43,565,182-43,565,648
(GRCh38/hg38)
Size:
467 bases
Orientation:
Plus strand
chr21:44,985,070-44,985,529
(GRCh37/hg19)
Size:
460 bases
Orientation:
Plus strand

Genomic View for H2BS1 Gene

Genes around H2BS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2BS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2BS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2BS1 Gene

Proteins for H2BS1 Gene

  • Protein details for H2BS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57053-H2BFS_HUMAN
    Recommended name:
    Histone H2B type F-S
    Protein Accession:
    P57053
    Secondary Accessions:
    • A0AVF9
    • Q5R2W0

    Protein attributes for H2BS1 Gene

    Size:
    126 amino acids
    Molecular mass:
    13944 Da
    Quaternary structure:
    • 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. The octamer wraps approximately 147 bp of DNA.

neXtProt entry for H2BS1 Gene

Post-translational modifications for H2BS1 Gene

  • Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.
  • Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.
  • GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).
  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
  • Glycosylation at Ser113
  • Modification sites at PhosphoSitePlus

Other Protein References for H2BS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2BS1 Gene

Domains & Families for H2BS1 Gene

Gene Families for H2BS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for H2BS1 Gene

Suggested Antigen Peptide Sequences for H2BS1 Gene

GenScript: Design optimal peptide antigens:
  • Histone H2B.s (H2BFS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57053

UniProtKB/Swiss-Prot:

H2BFS_HUMAN :
  • Belongs to the histone H2B family.
Family:
  • Belongs to the histone H2B family.
genes like me logo Genes that share domains with H2BS1: view

Function for H2BS1 Gene

Molecular function for H2BS1 Gene

UniProtKB/Swiss-Prot Function:
Core component of nucleosome. 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. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
UniProtKB/Swiss-Prot Function:
Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.

Phenotypes From GWAS Catalog for H2BS1 Gene

Gene Ontology (GO) - Molecular Function for H2BS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA 21873635
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2BS1: view
genes like me logo Genes that share phenotypes with H2BS1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for H2BS1 Gene

Localization for H2BS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2BS1 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H2BS1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for H2BS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0005615 extracellular space IDA 12860195
GO:0005634 nucleus IDA,IEA 16319397
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with H2BS1: view

Pathways & Interactions for H2BS1 Gene

PathCards logo

SuperPathways for H2BS1 Gene

SuperPathway Contained pathways
1 DNA Damage/Telomere Stress Induced Senescence
.38
genes like me logo Genes that share pathways with H2BS1: view

Pathways by source for H2BS1 Gene

1 GeneGo (Thomson Reuters) pathway for H2BS1 Gene
  • Signal transduction Activin A signaling regulation

Gene Ontology (GO) - Biological Process for H2BS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0006334 nucleosome assembly IBA 21873635
GO:0019731 antibacterial humoral response IDA 12860195
GO:0021762 substantia nigra development HEP 22926577
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with H2BS1: view

No data available for SIGNOR curated interactions for H2BS1 Gene

Drugs & Compounds for H2BS1 Gene

(12) Drugs for H2BS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for H2BS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with H2BS1: view

Transcripts for H2BS1 Gene

mRNA/cDNA for H2BS1 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2BS1 Gene

No ASD Table

Relevant External Links for H2BS1 Gene

GeneLoc Exon Structure for
H2BS1

Expression for H2BS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2BS1

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2BS1 Gene

Orthologs for H2BS1 Gene

Evolution for H2BS1 Gene

ENSEMBL:
Gene Tree for H2BS1 (if available)
TreeFam:
Gene Tree for H2BS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2BS1: view image

No data available for Orthologs for H2BS1 Gene

Paralogs for H2BS1 Gene

genes like me logo Genes that share paralogs with H2BS1: view

Variants for H2BS1 Gene

Additional dbSNP identifiers (rs#s) for H2BS1 Gene

Additional Variant Information for H2BS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2BS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for H2BS1 Gene

Disorders for H2BS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for H2BS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive alport syndrome
  • alport syndrome autosomal recessive
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
- elite association - COSMIC cancer census association via MalaCards
Search H2BS1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with H2BS1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for H2BS1 Gene

Publications for H2BS1 Gene

  1. Apoptotic phosphorylation of histone H2B is mediated by mammalian sterile twenty kinase. (PMID: 12757711) Cheung WL … Allis CD (Cell 2003) 3 4 23 54
  2. Histone H2B monoubiquitination functions cooperatively with FACT to regulate elongation by RNA polymerase II. (PMID: 16713563) Pavri R … Reinberg D (Cell 2006) 3 4 54
  3. Quantitative proteomic analysis of post-translational modifications of human histones. (PMID: 16627869) Beck HC … Jensen ON (Molecular & cellular proteomics : MCP 2006) 3 4 54
  4. Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. (PMID: 16307923) Zhu B … Reinberg D (Molecular cell 2005) 3 4 54
  5. Inhibition of core histones acetylation by carcinogenic nickel(II). (PMID: 16283522) Golebiowski F … Kasprzak KS (Molecular and cellular biochemistry 2005) 3 4 54

Products for H2BS1 Gene

Sources for H2BS1 Gene