Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HIST1H2AH Gene

Aliases for HIST1H2AH Gene

  • Histone Cluster 1 H2A Family Member H 2 3 5
  • Histone Cluster 1, H2ah 2 3
  • Histone H2A/S 3 4
  • H2A Histone Family Member 3
  • Histone H2A Type 1-H 3
  • Histone 1, H2ah 2
  • DJ86C11.1 3
  • HIST1H2AI 4
  • H2AFALii 3
  • H2A/S 3
  • H2AH 3

External Ids for HIST1H2AH Gene

Previous GeneCards Identifiers for HIST1H2AH Gene

  • GC06P027172
  • GC06P027222
  • GC06P026922
  • GC06P027114

Summaries for HIST1H2AH Gene

Entrez Gene Summary for HIST1H2AH 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 histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2AH Gene

HIST1H2AH (Histone Cluster 1 H2A Family Member H) is a Protein Coding gene. Diseases associated with HIST1H2AH include Wilson-Turner X-Linked Mental Retardation Syndrome and Syndromic X-Linked Intellectual Disability. Among its related pathways are Metabolism of proteins and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AL.

UniProtKB/Swiss-Prot for HIST1H2AH 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 HIST1H2AH Gene

Additional gene information for HIST1H2AH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AH Gene

Genomics for HIST1H2AH Gene

GeneHancer (GH) Regulatory Elements for HIST1H2AH Gene

Promoters and enhancers for HIST1H2AH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I027126 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 558.4 -9.1 -9060 23 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC HIST1H2AH GC06P027140 HIST1H2AG HIST1H4I HIST1H2BJ HIST1H2BK ZKSCAN8 ABT1 HMGN4 BTN2A1
GH06I027187 Enhancer 1.5 FANTOM5 Ensembl ENCODE 8.1 +41.4 41393 2.2 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF2 YY1 TCF12 POLR2B FOS ABT1 HMGN4 BTN2A3P BTN2A1 BTN2A2 HIST1H2AH BTN3A2 LOC102724851 TRI-AAT5-2 TRV-CAC6-1
GH06I027250 Promoter/Enhancer 1.5 Ensembl ENCODE 8.1 +104.4 104416 2.1 HDGF PKNOX1 ARNT SIN3A ZNF2 ZBTB7B POLR2B CBX5 ZNF213 E2F8 BTN3A2 ZSCAN9 RNU6-471P HIST1H2AH PRSS16 LOC442172
GH06I026471 Enhancer 1.5 Ensembl ENCODE dbSUPER 8 -671.3 -671301 7.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 BTN3A2 BTN2A2 BTN2A1 HMGN4 BTN2A3P HCG11 ABT1 RNU6-502P BTN1A1 BTN3A1
GH06I026341 Enhancer 1.5 Ensembl ENCODE dbSUPER 6.4 -804.9 -804892 1.6 MLX YBX1 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 SP3 NFYC MEF2D ABT1 BTN2A3P ZNF322 BTN2A2 HMGN4 BTN3A2 BTN2A1 GUSBP2 TRIM38 HIST1H1D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIST1H2AH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H2AH gene promoter:

Genomic Locations for HIST1H2AH Gene

Genomic Locations for HIST1H2AH Gene
chr6:27,147,082-27,147,562
(GRCh38/hg38)
Size:
481 bases
Orientation:
Plus strand
chr6:27,114,861-27,115,346
(GRCh37/hg19)

Genomic View for HIST1H2AH Gene

Genes around HIST1H2AH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AH Gene

Proteins for HIST1H2AH Gene

  • Protein details for HIST1H2AH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KK5-H2A1H_HUMAN
    Recommended name:
    Histone H2A type 1-H
    Protein Accession:
    Q96KK5

    Protein attributes for HIST1H2AH Gene

    Size:
    128 amino acids
    Molecular mass:
    13906 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 HIST1H2AH Gene

Post-translational modifications for HIST1H2AH 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. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). 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 DCAF1 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 isoforms=16
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2AH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AH Gene

Domains & Families for HIST1H2AH Gene

Gene Families for HIST1H2AH Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HIST1H2AH Gene

Suggested Antigen Peptide Sequences for HIST1H2AH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KK5

UniProtKB/Swiss-Prot:

H2A1H_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST1H2AH: view

Function for HIST1H2AH Gene

Molecular function for HIST1H2AH 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.

Phenotypes From GWAS Catalog for HIST1H2AH Gene

Gene Ontology (GO) - Molecular Function for HIST1H2AH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IBA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2AH: view
genes like me logo Genes that share phenotypes with HIST1H2AH: view

Animal Model Products

miRNA for HIST1H2AH Gene

miRTarBase miRNAs that target HIST1H2AH

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AH Gene

Localization for HIST1H2AH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AH 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 HIST1H2AH gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA,IDA 20458337
genes like me logo Genes that share ontologies with HIST1H2AH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H2AH Gene

Pathways & Interactions for HIST1H2AH Gene

genes like me logo Genes that share pathways with HIST1H2AH: view

Pathways by source for HIST1H2AH Gene

Gene Ontology (GO) - Biological Process for HIST1H2AH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with HIST1H2AH: view

No data available for SIGNOR curated interactions for HIST1H2AH Gene

Drugs & Compounds for HIST1H2AH Gene

(1) Drugs for HIST1H2AH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with HIST1H2AH: view

Transcripts for HIST1H2AH Gene

mRNA/cDNA for HIST1H2AH Gene

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

Unigene Clusters for HIST1H2AH Gene

Histone cluster 1, H2ah:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AH Gene

No ASD Table

Relevant External Links for HIST1H2AH Gene

GeneLoc Exon Structure for
HIST1H2AH
ECgene alternative splicing isoforms for
HIST1H2AH

Expression for HIST1H2AH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2AH Gene

mRNA differential expression in normal tissues according to GTEx for HIST1H2AH Gene

This gene is overexpressed in Testis (x9.3) and Small Intestine - Terminal Ileum (x4.9).

Protein differential expression in normal tissues from HIPED for HIST1H2AH Gene

This gene is overexpressed in Lavage (40.8), Saliva (16.5), and Heart (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST1H2AH Gene



Protein tissue co-expression partners for HIST1H2AH Gene

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AH Gene:

HIST1H2AH

SOURCE GeneReport for Unigene cluster for HIST1H2AH Gene:

Hs.352225

Evidence on tissue expression from TISSUES for HIST1H2AH Gene

  • Bone marrow(2.2)
  • Lung(2.2)
  • Pancreas(2.2)
  • Nervous system(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HIST1H2AH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AH Gene

Orthologs for HIST1H2AH Gene

This gene was present in the common ancestor of mammals.

Orthologs for HIST1H2AH Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC488291 33
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Hist1h2ah 33 16
  • 88.28 (n)
cow
(Bos Taurus)
Mammalia HIST1H2AH 33
  • 86.46 (n)
rat
(Rattus norvegicus)
Mammalia LOC680322 33
  • 86.2 (n)
Species where no ortholog for HIST1H2AH 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • 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)

Evolution for HIST1H2AH Gene

ENSEMBL:
Gene Tree for HIST1H2AH (if available)
TreeFam:
Gene Tree for HIST1H2AH (if available)

Paralogs for HIST1H2AH Gene

Variants for HIST1H2AH Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AH Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000523775 -- 27,147,863(+) C/T downstream_transcript_variant
rs1001361991 -- 27,148,034(+) G/C downstream_transcript_variant
rs1001502335 -- 27,147,739(+) C/T downstream_transcript_variant
rs1001547777 -- 27,145,410(+) C/T upstream_transcript_variant
rs1001641087 -- 27,145,697(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AH Gene

Variant ID Type Subtype PubMed ID
nsv970091 CNV duplication 23825009

Variation tolerance for HIST1H2AH Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H2AH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AH Gene

Disorders for HIST1H2AH Gene

MalaCards: The human disease database

(3) MalaCards diseases for HIST1H2AH Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIST1H2AH

genes like me logo Genes that share disorders with HIST1H2AH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIST1H2AH Gene

Publications for HIST1H2AH Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 58
  2. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S … Dantuma NP (Genes & development 2006) 3 4 58
  3. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PMID: 16359901) Cao R … Zhang Y (Molecular cell 2005) 3 4 58
  4. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T … Yamada M (Biochemistry 2005) 3 4 58
  5. Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PMID: 15010469) Zhang Y … Parvin JD (The Journal of biological chemistry 2004) 3 4 58

Products for HIST1H2AH Gene

Sources for HIST1H2AH Gene

Content
Loading form....