Aliases for HIST1H2BA Gene
Aliases for HIST1H2BA Gene
External Ids for HIST1H2BA Gene
- HGNC: 18730
- Entrez Gene: 255626
- Ensembl: ENSG00000146047
- OMIM: 609904
- UniProtKB: Q96A08
Previous GeneCards Identifiers for HIST1H2BA Gene
- GC06P025785
- GC06P025835
- GC06P025727
- GC06P025670
Summaries 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.
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
- Transcription factor binding sites by QIAGEN in the HIST1H2BA gene promoter:
Regulatory Element Products
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:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
HIST1H2BA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIST1H2BA
- Novus Biologicals Antibodies for HIST1H2BA
-
Abcam antibodies for HIST1H2BA
- Invitrogen Antibodies for HIST1H2BA
- Search GeneTex for Antibodies for HIST1H2BA
Protein Products
-
OriGene Purified Proteins for HIST1H2BA
- Search Origene for MassSpec and Protein Over-expression Lysates for HIST1H2BA
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- Search GeneTex for Proteins for HIST1H2BA
Assay Products
No data available for DME Specific Peptides for HIST1H2BA Gene
Domains & Families for HIST1H2BA Gene
Gene Families for HIST1H2BA Gene
- HGNC:
Protein Domains for HIST1H2BA Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2BA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96A08- Family:
-
- Belongs to the histone H2B family.
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.
| 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 | -- |
Phenotypes for HIST1H2BA Gene
- GenomeRNAi human phenotypes for HIST1H2BA:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2BA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BA gene
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CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BA
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BA
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miRNA for HIST1H2BA Gene
- miRTarBase miRNAs that target HIST1H2BA
-
- hsa-mir-34a-5p (MIRT025472)
- hsa-mir-6839-3p (MIRT511746)
- hsa-mir-5693 (MIRT511747)
- hsa-mir-4507 (MIRT511748)
- hsa-mir-3940-5p (MIRT511749)
- hsa-mir-8057 (MIRT511750)
- hsa-mir-6822-3p (MIRT511751)
- hsa-mir-4766-5p (MIRT511752)
- hsa-mir-146a-3p (MIRT511753)
- hsa-mir-5680 (MIRT511754)
- hsa-mir-1276 (MIRT511755)
- hsa-mir-760 (MIRT511756)
miRNA Products
- Search ViGene Biosciences for HIST1H2BA
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2BA
- Browse OriGene Inhibitory RNA Products For HIST1H2BA
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BA gene
Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for HIST1H2BA
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST1H2BA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2BA gene
-
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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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| 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 | -- |
Pathways & Interactions for HIST1H2BA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.34
|
| 2 | DNA Double-Strand Break Repair |
.53
|
|
| 3 | Cellular Senescence | ||
| 4 | Chromosome Maintenance | ||
| 5 | Cell Cycle, Mitotic |
.83
|
.60
|
Pathways by source for HIST1H2BA Gene
1 BioSystems pathway for HIST1H2BA Gene
68 Reactome pathways for HIST1H2BA Gene
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activation of HOX genes during differentiation
- Amyloid fiber formation
- B-WICH complex positively regulates rRNA expression
3 KEGG pathways for HIST1H2BA Gene
Interacting Proteins for HIST1H2BA Gene
Selected Interacting proteins:
ENSP00000274764
Q96A08-H2B1A_HUMAN
for HIST1H2BA Gene via
STRING
MINT
IID
| 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 | -- |
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
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BA
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BA
- GenScript: Design CRISPR guide RNA sequences for HIST1H2BA
miRNA Products
- Search ViGene Biosciences for HIST1H2BA
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2BA
- Browse OriGene Inhibitory RNA Products For HIST1H2BA
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BA gene
Clone Products
-
OriGene ORF clones in human for HIST1H2BA
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for HIST1H2BA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
mRNA differential expression in normal tissues according to GTEx for HIST1H2BA Gene
This gene is overexpressed in Testis (x49.9).
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
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2BA Gene:
HIST1H2BASOURCE GeneReport for Unigene cluster for HIST1H2BA Gene:
Hs.591786mRNA 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.
Primer Products
-
OriGene qPCR primer pairs for HIST1H2BA
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIST1H2BA 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| LOC488253 34 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HIST1H2BA 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HIST1H2BA 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hist1h2ba 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hist1h2ba 34 |
|
||
| chicken (Gallus gallus) |
Aves | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | HIST1H2BA 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | His2B:CG33900 35 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | his-11 35 |
|
ManyToMany | |
| his-15 35 |
|
ManyToMany | |||
| his-29 35 |
|
ManyToMany | |||
| his-34 35 |
|
ManyToMany | |||
| his-41 35 |
|
ManyToMany | |||
| his-44 35 |
|
ManyToMany | |||
| his-48 35 |
|
ManyToMany | |||
| his-58 35 |
|
ManyToMany | |||
| his-62 35 |
|
ManyToMany | |||
| his-66 35 |
|
ManyToMany | |||
| his-20 35 |
|
ManyToMany | |||
| his-22 35 |
|
ManyToMany | |||
| his-4 35 |
|
ManyToMany | |||
| his-52 35 |
|
ManyToMany | |||
| his-8 35 |
|
ManyToMany | |||
| his-39 35 |
|
ManyToMany | |||
| his-54 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HTB1 35 |
|
ManyToMany | |
| HTB2 35 |
|
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)
Paralogs for HIST1H2BA Gene
Paralogs for HIST1H2BA Gene
(23) SIMAP similar genes for HIST1H2BA Gene using alignment to 1 proteins:
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3570813 | CNV | loss | 25503493 |
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
No disorders were found for HIST1H2BA Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2BA Gene
Publications for HIST1H2BA Gene
- 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
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- 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
- Inhibition of core histones acetylation by carcinogenic nickel(II). (PMID: 16283522) Golebiowski F. … Kasprzak K.S. (Mol. Cell. Biochem. 2005) 3 4 64
- 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
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIST1H2BA Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
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