Aliases for HIST1H2AA Gene
Aliases for HIST1H2AA Gene
External Ids for HIST1H2AA Gene
- HGNC: 18729
- Entrez Gene: 221613
- Ensembl: ENSG00000164508
- OMIM: 613499
- UniProtKB: Q96QV6
Previous GeneCards Identifiers for HIST1H2AA Gene
- GC06M025784
- GC06M025834
- GC06M025669
Summaries for HIST1H2AA 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 member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
GeneCards Summary for HIST1H2AA Gene
HIST1H2AA (Histone Cluster 1 H2A Family Member A) 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 protein heterodimerization activity. An important paralog of this gene is HIST2H2AA3.
UniProtKB/Swiss-Prot for HIST1H2AA 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 HIST1H2AA Gene
Genomics for HIST1H2AA Gene
Regulatory Elements for HIST1H2AA Gene
Enhancers for HIST1H2AA 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 | -279.2 | -279239 | 0.0 | HIST1H1T HIST1H2AA HIST1H2BA HIST1H4G ENSG00000272558 ENSG00000272810 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST1H2AA on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIST1H2AA Gene
- Chromosome:
- 6
- Start:
- 25,726,063 bp from pter
- End:
- 25,726,562 bp from pter
- Size:
- 500 bases
- Orientation:
- Minus strand
Genomic View for HIST1H2AA Gene
Genes around HIST1H2AA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
HIST1H2AA 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 HIST1H2AA Gene
Proteins for HIST1H2AA Gene
-
Protein details for HIST1H2AA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96QV6-H2A1A_HUMAN
- Recommended name:
- Histone H2A type 1-A
- Protein Accession:
- Q96QV6
Protein attributes for HIST1H2AA Gene
- Size:
- 131 amino acids
- Molecular mass:
- 14234 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 HIST1H2AA Gene
Post-translational modifications for HIST1H2AA 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 isoforms=14 and posLast=1616
- Modification sites at PhosphoSitePlus
Other Protein References for HIST1H2AA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top HIST1H2AA Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIST1H2AA
- Cell Signaling Technology (CST) Antibodies for HIST1H2AA (H2A.4)
-
Cloud-Clone Corp. Antibodies for HIST1H2AA
- Invitrogen Antibodies for HIST1H2AA
- Search GeneTex for Antibodies for HIST1H2AA
Protein Products
-
OriGene Purified Proteins for HIST1H2AA
- Search Origene for MassSpec and Protein Over-expression Lysates for HIST1H2AA
- Origene Custom Protein Services for HIST1H2AA
- Novus Biologicals lysates for HIST1H2AA
-
Cloud-Clone Corp. Proteins for HIST1H2AA
- Search GeneTex for Proteins for HIST1H2AA
Assay Products
No data available for DME Specific Peptides for HIST1H2AA Gene
Domains & Families for HIST1H2AA Gene
Gene Families for HIST1H2AA Gene
- HGNC:
Protein Domains for HIST1H2AA Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2AA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96QV6- Family:
-
- Belongs to the histone H2A family.
Function for HIST1H2AA Gene
Molecular function for HIST1H2AA 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:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2AA Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AA gene
- Search ViGene Biosciences for HIST1H2AA
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AA
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AA
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AA
miRNA for HIST1H2AA Gene
- miRTarBase miRNAs that target HIST1H2AA
-
- hsa-mir-34a-5p (MIRT025388)
- hsa-mir-5693 (MIRT523270)
- hsa-mir-8057 (MIRT523271)
- hsa-mir-6802-5p (MIRT523272)
- hsa-mir-6822-3p (MIRT523273)
- hsa-mir-4766-5p (MIRT523274)
- hsa-mir-146a-3p (MIRT523275)
- hsa-mir-6865-5p (MIRT523276)
- hsa-mir-6815-5p (MIRT523277)
- hsa-mir-1276 (MIRT523278)
- hsa-mir-760 (MIRT523279)
miRNA Products
- Search ViGene Biosciences for HIST1H2AA
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIST1H2AA
- Browse OriGene Inhibitory RNA Products For HIST1H2AA
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AA gene
Clone Products
-
OriGene ORF clones in human for HIST1H2AA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
-
Horizon Cell Lines for HIST1H2AA
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST1H2AA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2AA 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 HIST1H2AA Gene
Localization for HIST1H2AA Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AA Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000784 | nuclear chromosome, telomeric region | IDA | 19135898 |
| GO:0000786 | nucleosome | IEA | -- |
| GO:0000790 | nuclear chromatin | IBA | -- |
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for HIST1H2AA 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 | Chromatin Regulation / Acetylation | ||
Pathways by source for HIST1H2AA Gene
1 Cell Signaling Technology pathway for HIST1H2AA Gene
11 Reactome pathways for HIST1H2AA Gene
2 KEGG pathways for HIST1H2AA Gene
Interacting Proteins for HIST1H2AA Gene
Selected Interacting proteins:
Q96QV6-H2A1A_HUMAN
ENSP00000297012
for HIST1H2AA Gene via
MINT
STRING
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006342 | chromatin silencing | IBA | -- |
No data available for SIGNOR curated interactions for HIST1H2AA Gene
Drugs & Compounds for HIST1H2AA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
Transcripts for HIST1H2AA Gene
mRNA/cDNA for HIST1H2AA Gene
- (1) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (42) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2AA Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2AA
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2AA
- GenScript: Design CRISPR guide RNA sequences for HIST1H2AA
miRNA Products
- Search ViGene Biosciences for HIST1H2AA
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIST1H2AA
- Browse OriGene Inhibitory RNA Products For HIST1H2AA
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2AA gene
Clone Products
-
OriGene ORF clones in human for HIST1H2AA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HIST1H2AA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for HIST1H2AA Gene
mRNA differential expression in normal tissues according to GTEx for HIST1H2AA Gene
This gene is overexpressed in Testis (x48.3).
This gene is overexpressed in Ovary (23.5), Neutrophil (12.3), and Tlymphocyte (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST1H2AA Gene
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AA Gene:
HIST1H2AASOURCE GeneReport for Unigene cluster for HIST1H2AA Gene:
Hs.406739Primer Products
-
OriGene qPCR primer pairs for HIST1H2AA
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AA Gene
Orthologs for HIST1H2AA Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIST1H2AA 35 |
|
OneToOne | |
| LOC462486 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | HIST1H2AA 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hist1h2ak 34 16 |
|
||
| cow (Bos Taurus) |
Mammalia | HIST1H2AG 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | zgc:101846 35 |
|
ManyToMany | |
| zgc:163047 35 |
|
ManyToMany | |||
| si:ch211-113a14.19 35 35 35 35 35 35 |
|
ManyToMany | |||
| zgc:195633 35 35 35 |
|
ManyToMany | |||
| zgc:154164 35 35 |
|
ManyToMany |
- Species where no ortholog for HIST1H2AA 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)
- 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)
- 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)
Paralogs for HIST1H2AA Gene
Paralogs for HIST1H2AA Gene
(26) SIMAP similar genes for HIST1H2AA Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for HIST1H2AA Gene
Variants for HIST1H2AA 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 | |
| rs1001454938 | -- | 25,728,030(+) | AAAAC(C/T)CCCTA | 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3570813 | CNV | loss | 25503493 |
Residual Variation Intolerance Score:
15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.34;
7.46% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST1H2AA Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2AA
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AA Gene
Disorders for HIST1H2AA Gene
Relevant External Links for HIST1H2AA
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HIST1H2AA
No disorders were found for HIST1H2AA Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2AA Gene
Publications for HIST1H2AA Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S. … Dantuma N.P. (Genes Dev. 2006) 3 4 64
- Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T. … Yamada M. (Biochemistry 2005) 3 4 64
- Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PMID: 16359901) Cao R. … Zhang Y. (Mol. Cell 2005) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for HIST1H2AA Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIST1H2AA 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
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