Aliases for HIST1H2AL Gene
Aliases for HIST1H2AL Gene
External Ids for HIST1H2AL Gene
- HGNC: 4730
- Entrez Gene: 8332
- Ensembl: ENSG00000276903
- OMIM: 602793
- UniProtKB: P0C0S8
Previous HGNC Symbols for HIST1H2AL Gene
- H2AFI
Previous GeneCards Identifiers for HIST1H2AL Gene
- GC06P027891
- GC06P027941
- GC06P027843
- GC06P027640
Summaries for HIST1H2AL 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 H2A 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 HIST1H2AL Gene
HIST1H2AL (Histone Cluster 1 H2A Family Member L) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Deubiquitination. GO annotations related to this gene include sequence-specific DNA binding and enzyme binding. An important paralog of this gene is HIST1H2AI.
UniProtKB/Swiss-Prot for HIST1H2AL 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 HIST1H2AL Gene
Genomics for HIST1H2AL Gene
Regulatory Elements for HIST1H2AL Gene
Enhancers for HIST1H2AL 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 |
|---|---|---|---|---|---|---|---|---|
| GH06G027834 | 2.1 | FANTOM5 Ensembl ENCODE dbSUPER | 9 | -28.0 | -28037 | 6.4 | CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC TBX21 MEF2D ZNF610 | ZKSCAN3 ZKSCAN4 ZKSCAN8 HIST1H3J HIST1H2BN HIST1H2AI HIST1H4J ZNF603P HIST1H2BM HIST1H2BO |
| GH06G027887 | 1.8 | FANTOM5 ENCODE dbSUPER | 4.1 | +28.2 | 28152 | 11.9 | CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 NFYC TBX21 SSRP1 ZNF610 | ZKSCAN3 ZKSCAN4 ZNF603P ZKSCAN8 ZSCAN9 HIST1H4K HIST1H3H HIST1H2BN HIST1H2BL HIST1H2AK |
| GH06G027805 | 2 | FANTOM5 Ensembl ENCODE dbSUPER | 2.5 | -53.2 | -53215 | 12.7 | CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 NFYC TBX21 MEF2D | ZNF603P ZKSCAN3 ZKSCAN4 ZNF192P1 HIST1H4K ZNF204P HIST1H2BN ZNF602P HIST1H2AI ENSG00000270326 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST1H2AL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIST1H2AL Gene
- Chromosome:
- 6
- Start:
- 27,865,329 bp from pter
- End:
- 27,865,798 bp from pter
- Size:
- 470 bases
- Orientation:
- Plus strand
Genomic View for HIST1H2AL Gene
Genes around HIST1H2AL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.1 by Ensembl
- 6p22.1 by Entrez Gene
- 6p22.1 by HGNC
HIST1H2AL 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 HIST1H2AL Gene
Proteins for HIST1H2AL Gene
-
Protein details for HIST1H2AL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0C0S8-H2A1_HUMAN
- Recommended name:
- Histone H2A type 1
- Protein Accession:
- P0C0S8
- P02261
- Q2M1R2
- Q76PA6
Protein attributes for HIST1H2AL Gene
- Size:
- 130 amino acids
- Molecular mass:
- 14091 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.
- 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.
- 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.
- 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.
- 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 HIST1H2AL Gene
Post-translational modifications for HIST1H2AL 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.
- Deiminated on Arg-4 in granulocytes upon calcium entry.
- Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
- Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM27 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of Lys-27 of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM27 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through Lys-63 linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and Lys-63-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend Lys-63-linked ubiquitin chains in vitro. H2AK119Ub and ionizing radiation-induced Lys-63-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
- Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by VPRBP is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
- Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
- Ubiquitination at posLast=1414 and posLast=1616
- Modification sites at PhosphoSitePlus
Other Protein References for HIST1H2AL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIST1H2AL
-
Abcam antibodies for HIST1H2AL
-
Cloud-Clone Corp. Antibodies for HIST1H2AL
- antibodies-online Antibodies for HIST1H2AL: See all 18
- Search GeneTex for Antibodies for HIST1H2AL
Protein Products
-
OriGene Purified Proteins for HIST1H2AL
- Search Origene for MassSpec and Protein Over-expression Lysates for HIST1H2AL
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-
Cloud-Clone Corp. Proteins for HIST1H2AL
- Search GeneTex for Proteins for HIST1H2AL
-
Abcam proteins for HIST1H2AL
Assay Products
No data available for DME Specific Peptides for HIST1H2AL Gene
Domains & Families for HIST1H2AL Gene
Gene Families for HIST1H2AL Gene
- HGNC:
Protein Domains for HIST1H2AL Gene
- InterPro:
- Blocks:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
P0C0S8- Family:
-
- Belongs to the histone H2A family.
No data available for Suggested Antigen Peptide Sequences for HIST1H2AL Gene
Function for HIST1H2AL Gene
Molecular function for HIST1H2AL 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 | IBA | -- |
| GO:0005515 | protein binding | IPI | 15161933 |
| GO:0019899 | enzyme binding | IPI | 17980597 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2AL Gene
- GenomeRNAi human phenotypes for HIST1H2AL:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AL gene
- Search ViGene Biosciences for HIST1H2AL
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AL
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AL
miRNA for HIST1H2AL Gene
- miRTarBase miRNAs that target HIST1H2AL
miRNA Products
- Search ViGene Biosciences for HIST1H2AL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2AL
- Browse OriGene Inhibitory RNA Products For HIST1H2AL
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AL gene
Clone Products
-
OriGene ORF clones in human for HIST1H2AL
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Cell Line Products
-
Horizon Cell Lines for HIST1H2AL
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST1H2AL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AL gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AL Gene
Localization for HIST1H2AL Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AL Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | IEA | -- |
| GO:0000790 | nuclear chromatin | IBA | -- |
| GO:0005634 | nucleus | IDA | 16319397 |
| GO:0005694 | chromosome | IEA | -- |
| GO:0070062 | extracellular exosome | IDA | 20458337 |
Pathways & Interactions for HIST1H2AL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.34
|
|
| 2 | Chromatin organization | ||
| 3 | Deubiquitination |
.74
|
|
| 4 | Metabolism of proteins | ||
| 5 | Metalloprotease DUBs | ||
Pathways by source for HIST1H2AL Gene
1 BioSystems pathway for HIST1H2AL Gene
11 Reactome pathways for HIST1H2AL Gene
2 KEGG pathways for HIST1H2AL Gene
1 GeneGo (Thomson Reuters) pathway for HIST1H2AL Gene
Interacting Proteins for HIST1H2AL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006342 | chromatin silencing | IBA | -- |
| GO:0008150 | biological_process | ND | -- |
No data available for SIGNOR curated interactions for HIST1H2AL Gene
Transcripts for HIST1H2AL Gene
mRNA/cDNA for HIST1H2AL Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2AL Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AL
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AL
miRNA Products
- Search ViGene Biosciences for HIST1H2AL
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST1H2AL
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-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AL gene
Clone Products
-
OriGene ORF clones in human for HIST1H2AL
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Flow Cytometry Products
Expression for HIST1H2AL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
mRNA differential expression in normal tissues according to GTEx for HIST1H2AL Gene
This gene is overexpressed in Whole Blood (x14.4).
This gene is overexpressed in Saliva (40.4) and Heart (18.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIST1H2AL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AL Gene:
HIST1H2ALSOURCE GeneReport for Unigene cluster for HIST1H2AL Gene:
Hs.233568Evidence on tissue expression from TISSUES for HIST1H2AL Gene
- Intestine(4.3)
- Spleen(4.3)
Primer Products
-
OriGene qPCR primer pairs for HIST1H2AL
-
OriGene qPCR primer pairs and template standards for HIST1H2AL
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AL Gene
Orthologs for HIST1H2AL Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC471894 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC524176 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hist1h2ae 34 16 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hist1h2ah 34 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.5443 34 |
|
- Species where no ortholog for HIST1H2AL 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)
- dog (Canis familiaris)
- 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
- 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 HIST1H2AL Gene
(23) SIMAP similar genes for HIST1H2AL Gene using alignment to 1 proteins:
Variants for HIST1H2AL Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1001236854 | -- | 27,865,086(+) | TGTGT(G/T)GTAAC | upstream-variant-2KB | |
| rs1002061183 | -- | 27,865,037(+) | GGGAG(A/C)CCCTG | upstream-variant-2KB | |
| rs1003007604 | -- | 27,864,720(+) | AAGCC(A/C)GACCC | upstream-variant-2KB | |
| rs1003944405 | -- | 27,864,739(+) | GGGAA(A/G)AAAAA | upstream-variant-2KB | |
| rs1005064455 | -- | 27,864,099(+) | TGGTG(C/G)TCTCG | upstream-variant-2KB |
Residual Variation Intolerance Score:
58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.49;
10.68% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST1H2AL Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2AL
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AL Gene
Disorders for HIST1H2AL Gene
Relevant External Links for HIST1H2AL
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HIST1H2AL
No disorders were found for HIST1H2AL Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2AL Gene
Publications for HIST1H2AL 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
- Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne M.T. II … Kelleher N.L. (J. Proteome Res. 2006) 3 4 64
- The human H2A and H2B histone gene complement. (PMID: 10064132) Albig W. … Doenecke D. (Biol. Chem. 1999) 3 4 64
- Characterization of the H1.5 gene completes the set of human H1 subtype genes. (PMID: 9031620) Albig W. … Doenecke D. (Gene 1997) 2 3 64
Products for HIST1H2AL Gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIST1H2AL 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
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