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Aliases for HIST1H2BH Gene

Aliases for HIST1H2BH Gene

  • Histone Cluster 1 H2B Family Member H 2 3 5
  • H2B Histone Family, Member J 2 3
  • Histone Cluster 1, H2bh 2 3
  • Histone 1, H2bh 2 3
  • Histone H2B.J 3 4
  • H2BFJ 3 4
  • H2B/J 3 4
  • Histone H2B Type 1-H 3

External Ids for HIST1H2BH Gene

Previous HGNC Symbols for HIST1H2BH Gene

  • H2BFJ

Previous GeneCards Identifiers for HIST1H2BH Gene

  • GC06P026309
  • GC06P026359
  • GC06P026194

Summaries for HIST1H2BH Gene

Entrez Gene Summary for HIST1H2BH Gene

  • Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2BH Gene

HIST1H2BH (Histone Cluster 1 H2B Family Member H) 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 HIST2H2BF.

UniProtKB/Swiss-Prot for HIST1H2BH 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.

Gene Wiki entry for HIST1H2BH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2BH Gene

Genomics for HIST1H2BH Gene

Regulatory Elements for HIST1H2BH Gene

Enhancers for HIST1H2BH 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
GH06G026294 1.6 Ensembl ENCODE dbSUPER 11.1 +44.8 44774 3.2 HDGF HNRNPUL1 FOXA2 PKNOX1 CREB3L1 MLX ARNT ARID4B SIN3A DMAP1 HMGN4 HIST1H3E HIST1H2APS4 HIST1H3G HIST1H2BH HIST1H2BD HIST1H1E HIST1H4G HIST1H2BE LARP1P1
GH06G026120 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -127.7 -127677 7.8 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 SP3 NFYC TBX21 SSRP1 ABT1 ENSG00000272462 HMGN4 NUP50P2 ZNF322 HFE BTN3A2 HIST1H1C HIST1H2APS5 BTN3A1
GH06G026248 1.6 Ensembl ENCODE dbSUPER 0.7 +3.7 3719 12.9 HDGF PKNOX1 FOXA2 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A YY1 ABT1 HIST1H3E HMGN4 HIST1H2APS3 HIST1H4H HIST1H2BE LARP1P1 HIST1H4C HIST1H2AE ENSG00000272462
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIST1H2BH on UCSC Golden Path with GeneCards custom track

Promoters for HIST1H2BH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195009 -51 4800 HDGF CREB3L1 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF766 CBX5 ZNF143

Genomic Location for HIST1H2BH Gene

Chromosome:
6
Start:
26,251,651 bp from pter
End:
26,253,710 bp from pter
Size:
2,060 bases
Orientation:
Plus strand

Genomic View for HIST1H2BH Gene

Genes around HIST1H2BH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2BH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2BH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2BH Gene

Proteins for HIST1H2BH Gene

  • Protein details for HIST1H2BH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93079-H2B1H_HUMAN
    Recommended name:
    Histone H2B type 1-H
    Protein Accession:
    Q93079
    Secondary Accessions:
    • B2R541
    • Q4VB74

    Protein attributes for HIST1H2BH Gene

    Size:
    126 amino acids
    Molecular mass:
    13892 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 HIST1H2BH Gene

Post-translational modifications for HIST1H2BH Gene

  • 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.
  • GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity).
  • 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.
  • Ubiquitination at isoforms=121
  • Glycosylation at posLast=113113
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2BH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2BH Gene

Domains & Families for HIST1H2BH Gene

Gene Families for HIST1H2BH Gene

Protein Domains for HIST1H2BH Gene

Suggested Antigen Peptide Sequences for HIST1H2BH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q93079

UniProtKB/Swiss-Prot:

H2B1H_HUMAN :
  • Belongs to the histone H2B family.
Family:
  • Belongs to the histone H2B family.
genes like me logo Genes that share domains with HIST1H2BH: view

Function for HIST1H2BH Gene

Molecular function for HIST1H2BH 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.

Gene Ontology (GO) - Molecular Function for HIST1H2BH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9119399
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2BH: view

Phenotypes for HIST1H2BH Gene

genes like me logo Genes that share phenotypes with HIST1H2BH: 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 HIST1H2BH Gene

Localization for HIST1H2BH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2BH 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 HIST1H2BH gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for HIST1H2BH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome NAS 9119399
GO:0005634 nucleus IEA,IDA 16319397
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HIST1H2BH: view

Pathways & Interactions for HIST1H2BH Gene

SuperPathways for HIST1H2BH 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 HIST1H2BH: view

Interacting Proteins for HIST1H2BH Gene

Selected Interacting proteins: Q93079-H2B1H_HUMAN for HIST1H2BH Gene via IID

Gene Ontology (GO) - Biological Process for HIST1H2BH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly NAS 9119399
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with HIST1H2BH: view

No data available for SIGNOR curated interactions for HIST1H2BH Gene

Transcripts for HIST1H2BH Gene

mRNA/cDNA for HIST1H2BH Gene

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

Unigene Clusters for HIST1H2BH Gene

Histone cluster 1, H2bh:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2BH Gene

No ASD Table

Relevant External Links for HIST1H2BH Gene

GeneLoc Exon Structure for
HIST1H2BH
ECgene alternative splicing isoforms for
HIST1H2BH

Expression for HIST1H2BH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2BH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H2BH Gene

This gene is overexpressed in Whole Blood (x6.5) and Esophagus - Mucosa (x5.2).

Protein differential expression in normal tissues from HIPED for HIST1H2BH Gene

This gene is overexpressed in Saliva (57.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HIST1H2BH Gene



Protein tissue co-expression partners for HIST1H2BH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2BH Gene:

HIST1H2BH

SOURCE GeneReport for Unigene cluster for HIST1H2BH Gene:

Hs.247815

Evidence on tissue expression from TISSUES for HIST1H2BH Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with HIST1H2BH: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2BH Gene

Orthologs for HIST1H2BH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIST1H2BH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC463172 34
  • 98.94 (n)
mouse
(Mus musculus)
Mammalia Hist1h2bq 34
  • 91.2 (n)
Hist1h2br 16
dog
(Canis familiaris)
Mammalia LOC483164 34
  • 90.21 (n)
rat
(Rattus norvegicus)
Mammalia LOC100359692 34
  • 89.15 (n)
cow
(Bos Taurus)
Mammalia HIST2H2BF 34
  • 84.8 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR183C 34
  • 69.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTB2 34
  • 64.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13310g 34
  • 61.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G53650 34
  • 65.83 (n)
rice
(Oryza sativa)
Liliopsida Os01g0153100 34
  • 74.84 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02435 34
  • 69.42 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes htb1 34
  • 65.84 (n)
Species where no ortholog for HIST1H2BH was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HIST1H2BH Gene

ENSEMBL:
Gene Tree for HIST1H2BH (if available)
TreeFam:
Gene Tree for HIST1H2BH (if available)

Paralogs for HIST1H2BH Gene

Paralogs for HIST1H2BH Gene

genes like me logo Genes that share paralogs with HIST1H2BH: view

Variants for HIST1H2BH Gene

Sequence variations from dbSNP and Humsavar for HIST1H2BH Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000465845 -- 26,249,769(+) TTCAA(C/T)GGCTG downstream-variant-500B, upstream-variant-2KB
rs1000601191 -- 26,249,935(+) TTTGT(A/G)TAAGT downstream-variant-500B, upstream-variant-2KB
rs1001532143 -- 26,250,701(+) CTTCC(A/T)GTTTC upstream-variant-2KB
rs1001720064 -- 26,252,297(+) TCCCA(C/T)CTCGG downstream-variant-500B, upstream-variant-2KB
rs1005553179 -- 26,252,320(+) TTACT(A/G)AGCAG downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2BH Gene

Variant ID Type Subtype PubMed ID
dgv5926n100 CNV gain 25217958
nsv1023453 CNV gain 25217958
nsv428137 CNV loss 18775914
nsv601173 CNV loss 21841781
nsv981112 CNV duplication 23825009

Variation tolerance for HIST1H2BH Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIST1H2BH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2BH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2BH Gene

Disorders for HIST1H2BH Gene

Relevant External Links for HIST1H2BH

Genetic Association Database (GAD)
HIST1H2BH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIST1H2BH

No disorders were found for HIST1H2BH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2BH Gene

Publications for HIST1H2BH Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
  2. Human histone gene organization: nonregular arrangement within a large cluster. (PMID: 9119399) Albig W. … Doenecke D. (Genomics 1997) 2 3 4 64
  3. Gene-specific characterization of human histone H2B by electron capture dissociation. (PMID: 16457587) Siuti N. … Pesavento J.J. (J. Proteome Res. 2006) 3 4 64
  4. Quantitative proteomic analysis of post-translational modifications of human histones. (PMID: 16627869) Beck H.C. … Jensen O.N. (Mol. Cell. Proteomics 2006) 3 4 64
  5. 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

Products for HIST1H2BH Gene

Sources for HIST1H2BH Gene

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