Aliases for HIST1H2BL Gene
Aliases for HIST1H2BL Gene
External Ids for HIST1H2BL Gene
- HGNC: 4748
- Entrez Gene: 8340
- Ensembl: ENSG00000185130
- OMIM: 602800
- UniProtKB: Q99880
Previous HGNC Symbols for HIST1H2BL Gene
- H2BFC
Previous GeneCards Identifiers for HIST1H2BL Gene
- GC06M027833
- GC06M027883
- GC06M027775
- GC06M027583
Summaries for HIST1H2BL 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 small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
GeneCards Summary for HIST1H2BL Gene
HIST1H2BL (Histone Cluster 1 H2B Family Member L) 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.
UniProtKB/Swiss-Prot for HIST1H2BL 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2BL Gene
Genomics for HIST1H2BL Gene
Regulatory Elements for HIST1H2BL Gene
Enhancers for HIST1H2BL Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST1H2BL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIST1H2BL Gene
- Chromosome:
- 6
- Start:
- 27,807,444 bp from pter
- End:
- 27,807,931 bp from pter
- Size:
- 488 bases
- Orientation:
- Minus strand
Genomic View for HIST1H2BL Gene
Genes around HIST1H2BL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.1 by Ensembl
- 6p22.1 by Entrez Gene
- 6p22.1 by HGNC
HIST1H2BL 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 HIST1H2BL Gene
Proteins for HIST1H2BL Gene
-
Protein details for HIST1H2BL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99880-H2B1L_HUMAN
- Recommended name:
- Histone H2B type 1-L
- Protein Accession:
- Q99880
- B2R5A3
- Q52LW9
Protein attributes for HIST1H2BL Gene
- Size:
- 126 amino acids
- Molecular mass:
- 13952 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 HIST1H2BL Gene
Post-translational modifications for HIST1H2BL Gene
- ADP-ribosylated on Ser-7 in response to DNA damage.
- 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 HIST1H2BL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
-
OriGene Purified Proteins for HIST1H2BL
- Search Origene for MassSpec and Protein Over-expression Lysates for HIST1H2BL
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- Novus Biologicals lysates for HIST1H2BL
- Search GeneTex for Proteins for HIST1H2BL
Assay Products
No data available for DME Specific Peptides for HIST1H2BL Gene
Domains & Families for HIST1H2BL Gene
Gene Families for HIST1H2BL Gene
- HGNC:
Protein Domains for HIST1H2BL Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2BL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99880- Family:
-
- Belongs to the histone H2B family.
Function for HIST1H2BL Gene
Molecular function for HIST1H2BL 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | NAS | 9439656 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2BL Gene
- GenomeRNAi human phenotypes for HIST1H2BL:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2BL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BL gene
- Search ViGene Biosciences for HIST1H2BL
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BL
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miRNA for HIST1H2BL Gene
- miRTarBase miRNAs that target HIST1H2BL
-
- hsa-mir-98-5p (MIRT027550)
- hsa-mir-877-5p (MIRT037288)
- hsa-mir-320a (MIRT044399)
- hsa-mir-760 (MIRT360344)
- hsa-mir-6822-3p (MIRT360348)
- hsa-mir-5693 (MIRT511695)
- hsa-mir-6839-3p (MIRT511696)
- hsa-mir-4507 (MIRT511697)
- hsa-mir-3940-5p (MIRT511698)
- hsa-mir-8057 (MIRT511699)
- hsa-mir-4758-5p (MIRT511700)
- hsa-mir-1238-5p (MIRT511701)
- hsa-mir-4745-5p (MIRT511702)
- hsa-mir-4481 (MIRT511703)
- hsa-mir-4766-5p (MIRT511704)
- hsa-mir-146a-3p (MIRT511705)
- hsa-mir-1276 (MIRT511706)
miRNA Products
- Search ViGene Biosciences for HIST1H2BL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2BL
- Browse OriGene Inhibitory RNA Products For HIST1H2BL
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BL gene
Clone Products
-
OriGene ORF clones in human for HIST1H2BL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
Cell Line Products
-
Horizon Cell Lines for HIST1H2BL
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST1H2BL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2BL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BL gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2BL Gene
Localization for HIST1H2BL Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2BL Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | NAS | 9439656 |
| GO:0005634 | nucleus | IDA,IEA | 16319397 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for HIST1H2BL 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 HIST1H2BL Gene
68 Reactome pathways for HIST1H2BL 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 HIST1H2BL Gene
1 GeneGo (Thomson Reuters) pathway for HIST1H2BL Gene
Interacting Proteins for HIST1H2BL Gene
Selected Interacting proteins:
ENSP00000366618
Q99880-H2B1L_HUMAN
for HIST1H2BL Gene via
STRING
MINT
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006334 | nucleosome assembly | NAS | 9439656 |
| GO:0016567 | protein ubiquitination | TAS | -- |
No data available for SIGNOR curated interactions for HIST1H2BL Gene
Transcripts for HIST1H2BL Gene
mRNA/cDNA for HIST1H2BL Gene
- (1) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (18) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2BL Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BL
- GenScript: Design CRISPR guide RNA sequences for HIST1H2BL
miRNA Products
- Search ViGene Biosciences for HIST1H2BL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2BL
- Browse OriGene Inhibitory RNA Products For HIST1H2BL
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BL gene
Clone Products
-
OriGene ORF clones in human for HIST1H2BL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
Flow Cytometry Products
Expression for HIST1H2BL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Presumptive Podocytes Podocyte Layer
-
Epithelial Cells
- Presumptive Podocytes Podocyte Layer
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
mRNA differential expression in normal tissues according to GTEx for HIST1H2BL Gene
This gene is overexpressed in Whole Blood (x6.1).
This gene is overexpressed in Saliva (55.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIST1H2BL Gene
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2BL Gene:
HIST1H2BLSOURCE GeneReport for Unigene cluster for HIST1H2BL Gene:
Hs.137594Primer Products
-
OriGene qPCR primer pairs for HIST1H2BL
No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2BL Gene
Orthologs for HIST1H2BL Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC471902 34 |
|
||
| -- 35 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
ManyToMany | |
| LOC611465 34 |
|
||||
| mouse (Mus musculus) |
Mammalia | Hist1h2be 35 |
|
ManyToMany | |
| Hist1h2bj 34 16 |
|
||||
| cow (Bos Taurus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| LOC100295221 34 |
|
||||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany |
- Species where no ortholog for HIST1H2BL 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)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- 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)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- 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)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for HIST1H2BL Gene
(23) SIMAP similar genes for HIST1H2BL Gene using alignment to 1 proteins:
No data available for Paralogs for HIST1H2BL Gene
Variants for HIST1H2BL Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1003461925 | -- | 27,808,757(+) | TCAGT(C/T)TTCGG | downstream-variant-500B, upstream-variant-2KB | |
| rs1005508169 | -- | 27,808,238(+) | AGGCA(A/G)AGCTC | upstream-variant-2KB, reference, missense | |
| rs1005703886 | -- | 27,807,472(+) | TTTAG(A/G)TAATA | downstream-variant-500B, upstream-variant-2KB | |
| rs1006375060 | -- | 27,809,662(+) | ACATT(A/G)CATTT | upstream-variant-2KB | |
| rs1006594923 | -- | 27,808,065(+) | CTGCA(C/T)AATCG | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3890803 | CNV | loss | 25118596 |
| nsv1017057 | CNV | gain | 25217958 |
| nsv830618 | CNV | gain | 17160897 |
| nsv969366 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.58;
72.36% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST1H2BL Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2BL
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2BL Gene
Disorders for HIST1H2BL Gene
Relevant External Links for HIST1H2BL
No disorders were found for HIST1H2BL Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2BL Gene
Publications for HIST1H2BL Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W. … Doenecke D. (Hum. Genet. 1997) 2 3 4 64
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
- Characterization of histones H2A and H2B variants and their post- translational modifications by mass spectrometry. (PMID: 16319397) Bonenfant D. … van Oostrum J. (Mol. Cell. Proteomics 2006) 3 4 64
- 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
Products for HIST1H2BL Gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIST1H2BL 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
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
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