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Aliases for HIST1H2BA Gene

Aliases for HIST1H2BA Gene

  • Histone Cluster 1 H2B Family Member A 2 3 5
  • H2B Histone Family, Member U, (Testis-Specific) 2 3
  • Testis-Specific Histone H2B 3 4
  • Histone Cluster 1, H2ba 2 3
  • Histone H2B, Testis 3 4
  • Histone 1, H2ba 2 3
  • TSH2B.1 3 4
  • TSH2B 3 4
  • Histone H2B Type 1-A 3
  • BA317E16.3 3
  • H2BFU 3
  • STBP 3
  • TH2B 3

External Ids for HIST1H2BA Gene

Previous GeneCards Identifiers for HIST1H2BA Gene

  • GC06P025785
  • GC06P025835
  • GC06P025727
  • GC06P025670

Summaries for HIST1H2BA Gene

Entrez Gene Summary for HIST1H2BA Gene

  • 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 is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2BA Gene

HIST1H2BA (Histone Cluster 1 H2B Family Member A) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2BG.

UniProtKB/Swiss-Prot for HIST1H2BA Gene

  • Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells. Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones. Also expressed maternally and is present in the female pronucleus, suggesting a similar role in protamine replacement by nucleosomes at fertilization (By similarity). Also found in fat cells, its function and the presence of post-translational modifications specific to such cells are still unclear. 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.

Gene Wiki entry for HIST1H2BA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2BA Gene

Genomics for HIST1H2BA Gene

Regulatory Elements for HIST1H2BA Gene

Enhancers for HIST1H2BA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G026005 0.3 FANTOM5 4.4 +279.0 279024 0.0 HIST1H1T HIST1H2AA HIST1H2BA HIST1H4G ENSG00000272810 ENSG00000272558
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIST1H2BA on UCSC Golden Path with GeneCards custom track

Genomic Location for HIST1H2BA Gene

Chromosome:
6
Start:
25,726,777 bp from pter
End:
25,727,345 bp from pter
Size:
569 bases
Orientation:
Plus strand

Genomic View for HIST1H2BA Gene

Genes around HIST1H2BA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2BA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2BA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2BA Gene

Proteins for HIST1H2BA Gene

  • Protein details for HIST1H2BA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A08-H2B1A_HUMAN
    Recommended name:
    Histone H2B type 1-A
    Protein Accession:
    Q96A08
    Secondary Accessions:
    • B2R544
    • Q6NZ98
    • Q6NZA0
    • Q6NZA1

    Protein attributes for HIST1H2BA Gene

    Size:
    127 amino acids
    Molecular mass:
    14167 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.

    Three dimensional structures from OCA and Proteopedia for HIST1H2BA Gene

neXtProt entry for HIST1H2BA Gene

Post-translational modifications for HIST1H2BA Gene

  • Acetylated during spermatogenesis. Acetylated form is most abundant in spermatogonia compared to spermatocytes and round spermatids (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.
  • Methylated at Lys-118 in spermatogonia, spermatocytes and round spermatids.
  • Monoubiquitination at Lys-36 (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-122 (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.
  • Phosphorylated at Thr-117 in spermatogonia, spermatocytes and round spermatids.
  • Ubiquitination at isoforms=122
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2BA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2BA Gene

Domains & Families for HIST1H2BA Gene

Gene Families for HIST1H2BA Gene

Protein Domains for HIST1H2BA Gene

Suggested Antigen Peptide Sequences for HIST1H2BA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96A08

UniProtKB/Swiss-Prot:

H2B1A_HUMAN :
  • Belongs to the histone H2B family.
Family:
  • Belongs to the histone H2B family.
genes like me logo Genes that share domains with HIST1H2BA: view

Function for HIST1H2BA Gene

Molecular function for HIST1H2BA Gene

UniProtKB/Swiss-Prot Function:
Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells. Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones. Also expressed maternally and is present in the female pronucleus, suggesting a similar role in protamine replacement by nucleosomes at fertilization (By similarity). Also found in fat cells, its function and the presence of post-translational modifications specific to such cells are still unclear. 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.

Gene Ontology (GO) - Molecular Function for HIST1H2BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IBA --
GO:0042393 histone binding IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2BA: view
genes like me logo Genes that share phenotypes with HIST1H2BA: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2BA Gene

Localization for HIST1H2BA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2BA 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 HIST1H2BA gene
Compartment Confidence
nucleus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for HIST1H2BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0000786 nucleosome ISS --
GO:0000788 nuclear nucleosome IEA --
GO:0005634 nucleus IDA,IEA 21630459
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with HIST1H2BA: view

Pathways & Interactions for HIST1H2BA Gene

SuperPathways for HIST1H2BA Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 DNA Double-Strand Break Repair
3 Cellular Senescence
4 Chromosome Maintenance
5 Cell Cycle, Mitotic
.60
genes like me logo Genes that share pathways with HIST1H2BA: view

Gene Ontology (GO) - Biological Process for HIST1H2BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006334 nucleosome assembly IEA,ISS --
GO:0006337 nucleosome disassembly IEA,ISS --
GO:0006954 inflammatory response IEA --
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with HIST1H2BA: view

No data available for SIGNOR curated interactions for HIST1H2BA Gene

Transcripts for HIST1H2BA Gene

mRNA/cDNA for HIST1H2BA Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(37) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIST1H2BA Gene

Histone cluster 1, H2ba:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2BA Gene

No ASD Table

Relevant External Links for HIST1H2BA Gene

GeneLoc Exon Structure for
HIST1H2BA
ECgene alternative splicing isoforms for
HIST1H2BA

Expression for HIST1H2BA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2BA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H2BA Gene

This gene is overexpressed in Testis (x49.9).

Protein differential expression in normal tissues from HIPED for HIST1H2BA Gene

This gene is overexpressed in Blymphocyte (12.7), Peripheral blood mononuclear cells (12.1), Ovary (8.6), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIST1H2BA Gene



Protein tissue co-expression partners for HIST1H2BA Gene

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2BA Gene:

HIST1H2BA

SOURCE GeneReport for Unigene cluster for HIST1H2BA Gene:

Hs.591786

mRNA Expression by UniProt/SwissProt for HIST1H2BA Gene:

Q96A08-H2B1A_HUMAN
Tissue specificity: Mainly expressed in testis, and the corresponding protein is also present in mature sperm (at protein level). Also found in some fat cells.
genes like me logo Genes that share expression patterns with HIST1H2BA: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2BA Gene

Orthologs for HIST1H2BA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HIST1H2BA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIST1H2BA 34 35
  • 97.9 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
LOC488253 34
  • 79.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HIST1H2BA 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIST1H2BA 34 35
  • 80.58 (n)
mouse
(Mus musculus)
Mammalia Hist1h2ba 34 16 35
  • 80.31 (n)
rat
(Rattus norvegicus)
Mammalia Hist1h2ba 34
  • 80.05 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 73 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii HIST1H2BA 35
  • 86 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta His2B:CG33900 35
  • 82 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea his-11 35
  • 80 (a)
ManyToMany
his-15 35
  • 80 (a)
ManyToMany
his-29 35
  • 80 (a)
ManyToMany
his-34 35
  • 80 (a)
ManyToMany
his-41 35
  • 80 (a)
ManyToMany
his-44 35
  • 80 (a)
ManyToMany
his-48 35
  • 80 (a)
ManyToMany
his-58 35
  • 80 (a)
ManyToMany
his-62 35
  • 80 (a)
ManyToMany
his-66 35
  • 80 (a)
ManyToMany
his-20 35
  • 79 (a)
ManyToMany
his-22 35
  • 79 (a)
ManyToMany
his-4 35
  • 79 (a)
ManyToMany
his-52 35
  • 79 (a)
ManyToMany
his-8 35
  • 79 (a)
ManyToMany
his-39 35
  • 76 (a)
ManyToMany
his-54 35
  • 69 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTB1 35
  • 66 (a)
ManyToMany
HTB2 35
  • 66 (a)
ManyToMany
Species where no ortholog for HIST1H2BA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HIST1H2BA Gene

ENSEMBL:
Gene Tree for HIST1H2BA (if available)
TreeFam:
Gene Tree for HIST1H2BA (if available)

Paralogs for HIST1H2BA Gene

Variants for HIST1H2BA Gene

Sequence variations from dbSNP and Humsavar for HIST1H2BA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000483009 -- 25,726,835(+) TGAAG(A/C)GCTGT intron-variant, upstream-variant-2KB
rs1001893748 -- 25,725,930(+) TGGCC(A/G)ATGGA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002155579 -- 25,727,382(+) TGTGT(A/G)GTTTC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002647352 -- 25,725,867(+) CTGCT(C/T)ACAAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002664843 -- 25,726,026(+) CAGCA(C/G)TAACG intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2BA Gene

Variant ID Type Subtype PubMed ID
esv3570813 CNV loss 25503493

Variation tolerance for HIST1H2BA Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIST1H2BA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2BA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2BA Gene

Disorders for HIST1H2BA Gene

Relevant External Links for HIST1H2BA

Genetic Association Database (GAD)
HIST1H2BA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIST1H2BA

No disorders were found for HIST1H2BA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2BA Gene

Publications for HIST1H2BA Gene

  1. Human testis/sperm-specific histone H2B (hTSH2B). Molecular cloning and characterization. (PMID: 12213818) Zalensky A.O. … Bradbury E.M. (J. Biol. Chem. 2002) 2 3 4 64
  2. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
  3. Histone H2B monoubiquitination functions cooperatively with FACT to regulate elongation by RNA polymerase II. (PMID: 16713563) Pavri R. … Reinberg D. (Cell 2006) 3 4 64
  4. Inhibition of core histones acetylation by carcinogenic nickel(II). (PMID: 16283522) Golebiowski F. … Kasprzak K.S. (Mol. Cell. Biochem. 2005) 3 4 64
  5. Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. (PMID: 16307923) Zhu B. … Reinberg D. (Mol. Cell 2005) 3 4 64

Products for HIST1H2BA Gene

Sources for HIST1H2BA Gene

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