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Aliases for HIST1H2AI Gene

Aliases for HIST1H2AI Gene

  • Histone Cluster 1 H2A Family Member I 2 3 5
  • H2A Histone Family, Member C 2 3
  • Histone Cluster 1, H2ai 2 3
  • Histone H2A/Ptl 3 4
  • Histone 1, H2ai 2 3
  • H2AFC 3 4
  • H2A.1 3 4
  • Histone H2A Type 1 3
  • H2A/C 3
  • H2AFD 4
  • H2AFI 4
  • H2AFN 4
  • H2AFP 4

External Ids for HIST1H2AI Gene

Previous HGNC Symbols for HIST1H2AI Gene

  • H2AFC

Previous GeneCards Identifiers for HIST1H2AI Gene

  • GC06P027834
  • GC06P027883
  • GC06P027776
  • GC06P027584
  • GC06P027780

Summaries for HIST1H2AI Gene

Entrez Gene Summary for HIST1H2AI 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 HIST1H2AI Gene

HIST1H2AI (Histone Cluster 1 H2A Family Member I) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and enzyme binding. An important paralog of this gene is HIST1H2AG.

UniProtKB/Swiss-Prot for HIST1H2AI 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 HIST1H2AI Gene

Additional gene information for HIST1H2AI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AI Gene

Genomics for HIST1H2AI Gene

GeneHancer (GH) Regulatory Elements for HIST1H2AI Gene

Promoters and enhancers for HIST1H2AI 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
GH06J027834 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 +29.1 29094 6.4 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 SP3 NFYC MEF2D HIST1H2BN HIST1H2AK GC06M027849 ZKSCAN3 ZKSCAN4 ZKSCAN8 ZSCAN9 ZSCAN12 HNRNPA1P1 HIST1H2BPS2
GH06J027887 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 14 +85.3 85282 11.9 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 NFYC SSRP1 ZNF610 RCOR2 HIST1H2AM HIST1H2BO HIST1H3J GC06M028139 PIR50251 PIR61297 PIR62073 PIR45952 ZKSCAN8 ZKSCAN3
GH06J027157 Enhancer 1.3 Ensembl ENCODE 12.1 -650.4 -650363 1.7 HDGF FOXA2 ARNT SIN3A YBX1 ZNF2 ZNF766 ZNF213 E2F8 ZNF207 GC06P027255 TRH-GTG1-5 ABT1 BTN2A3P ZKSCAN8 HMGN4 BTN3A2 BTN2A2 BTN2A1 ZNF322
GH06J027776 Enhancer 1.2 FANTOM5 ENCODE 11.3 -30.6 -30556 1.7 ARNT YY1 GTF3C2 ZNF766 E2F8 ARID2 RUNX3 NCOA1 ZNF592 MEF2D GC06P027806 PIR58221 TRX-CAT2-1 ZKSCAN8 ZKSCAN3 ZSCAN12 ZKSCAN4 ZNF603P ZSCAN23 ZSCAN9
GH06J027805 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 3.9 +3.9 3916 12.7 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 NFYC ZKSCAN4 ZKSCAN8 ZKSCAN3 ZSCAN9 ZSCAN12 ZNF603P ZSCAN26 ZNF192P1 HIST1H4K ZNF204P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIST1H2AI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H2AI gene promoter:
  • CBF-A
  • Egr-4
  • CBF(2)
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YB
  • NF-YA
  • AP-4
  • FOXO4

Genomic Locations for HIST1H2AI Gene

Genomic Locations for HIST1H2AI Gene
chr6:27,808,199-27,808,701
(GRCh38/hg38)
Size:
503 bases
Orientation:
Plus strand
chr6:27,775,899-27,776,445
(GRCh37/hg19)
Size:
547 bases
Orientation:
Plus strand

Genomic View for HIST1H2AI Gene

Genes around HIST1H2AI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AI Gene

Proteins for HIST1H2AI Gene

  • Protein details for HIST1H2AI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0S8-H2A1_HUMAN
    Recommended name:
    Histone H2A type 1
    Protein Accession:
    P0C0S8
    Secondary Accessions:
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6
    • P02261
    • Q2M1R2
    • Q76PA6

    Protein attributes for HIST1H2AI 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.

    Three dimensional structures from OCA and Proteopedia for HIST1H2AI Gene

neXtProt entry for HIST1H2AI Gene

Post-translational modifications for HIST1H2AI Gene

  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • 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.
  • 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).
  • 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.
  • Ubiquitination at isoforms=16 and isoforms=14
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2AI Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AI Gene

Domains & Families for HIST1H2AI Gene

Gene Families for HIST1H2AI Gene

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

Protein Domains for HIST1H2AI Gene

Graphical View of Domain Structure for InterPro Entry

P0C0S8

UniProtKB/Swiss-Prot:

H2A1_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST1H2AI: view

No data available for Suggested Antigen Peptide Sequences for HIST1H2AI Gene

Function for HIST1H2AI Gene

Molecular function for HIST1H2AI 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 HIST1H2AI Gene

Gene Ontology (GO) - Molecular Function for HIST1H2AI Gene

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 --
genes like me logo Genes that share ontologies with HIST1H2AI: view
genes like me logo Genes that share phenotypes with HIST1H2AI: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIST1H2AI

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AI Gene

Localization for HIST1H2AI Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AI Gene

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 HIST1H2AI gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AI Gene

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 HDA 20458337
genes like me logo Genes that share ontologies with HIST1H2AI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H2AI Gene

Pathways & Interactions for HIST1H2AI Gene

genes like me logo Genes that share pathways with HIST1H2AI: view

Pathways by source for HIST1H2AI Gene

1 GeneGo (Thomson Reuters) pathway for HIST1H2AI Gene
1 Cell Signaling Technology pathway for HIST1H2AI Gene

Gene Ontology (GO) - Biological Process for HIST1H2AI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA --
GO:0006342 chromatin silencing IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with HIST1H2AI: view

No data available for SIGNOR curated interactions for HIST1H2AI Gene

Drugs & Compounds for HIST1H2AI Gene

No Compound Related Data Available

Transcripts for HIST1H2AI Gene

mRNA/cDNA for HIST1H2AI Gene

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

Unigene Clusters for HIST1H2AI Gene

Histone cluster 1, H2ai:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIST1H2AI

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AI Gene

No ASD Table

Relevant External Links for HIST1H2AI Gene

GeneLoc Exon Structure for
HIST1H2AI
ECgene alternative splicing isoforms for
HIST1H2AI

Expression for HIST1H2AI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2AI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H2AI Gene

This gene is overexpressed in Whole Blood (x13.1).

Protein differential expression in normal tissues from HIPED for HIST1H2AI Gene

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 HIST1H2AI Gene



Protein tissue co-expression partners for HIST1H2AI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AI Gene:

HIST1H2AI

SOURCE GeneReport for Unigene cluster for HIST1H2AI Gene:

Hs.534035

Evidence on tissue expression from TISSUES for HIST1H2AI Gene

  • Intestine(4.2)
  • Spleen(4)
genes like me logo Genes that share expression patterns with HIST1H2AI: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AI Gene

Orthologs for HIST1H2AI Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIST1H2AI Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 34
  • 100 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia HIST1H2AG 34
  • 100 (a)
OneToMany
LOC617905 33
  • 85.27 (n)
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
ManyToMany
LOC471895 33
  • 90.89 (n)
mouse
(Mus musculus)
Mammalia Hist1h2an 34
  • 98 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HIST1H2AI 34
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 89 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 99 (a)
ManyToMany
-- 34
  • 99 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.349 33
zebrafish
(Danio rerio)
Actinopterygii LOC100006331 33
  • 79.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta His4:CG33893 33
worm
(Caenorhabditis elegans)
Secernentea his-31 33
rice
(Oryza sativa)
Liliopsida Os10g0539500 33
Species where no ortholog for HIST1H2AI 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for HIST1H2AI Gene

ENSEMBL:
Gene Tree for HIST1H2AI (if available)
TreeFam:
Gene Tree for HIST1H2AI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIST1H2AI: view image

Paralogs for HIST1H2AI Gene

Pseudogenes.org Pseudogenes for HIST1H2AI Gene

genes like me logo Genes that share paralogs with HIST1H2AI: view

Variants for HIST1H2AI Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AI Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1002165695 -- 27,806,319(+) A/G upstream_transcript_variant
rs1003461925 -- 27,808,757(+) C/T downstream_transcript_variant
rs1005508169 -- 27,808,238(+) A/G coding_sequence_variant, missense_variant
rs1005703886 -- 27,807,472(+) A/G upstream_transcript_variant
rs1006594923 -- 27,808,065(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AI Gene

Variant ID Type Subtype PubMed ID
esv3890803 CNV loss 25118596
nsv1017057 CNV gain 25217958
nsv830618 CNV gain 17160897
nsv969366 CNV duplication 23825009

Variation tolerance for HIST1H2AI Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H2AI Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AI Gene

Disorders for HIST1H2AI Gene

Additional Disease Information for HIST1H2AI

No disorders were found for HIST1H2AI Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2AI Gene

Publications for HIST1H2AI Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 58
  2. The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W … Doenecke D (Human genetics 1997) 2 3 4 58
  3. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne MT … Kelleher NL (Journal of proteome research 2006) 3 4 58
  4. The human H2A and H2B histone gene complement. (PMID: 10064132) Albig W … Doenecke D (Biological chemistry 1999) 3 4 58
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58

Products for HIST1H2AI Gene

Sources for HIST1H2AI Gene

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