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Aliases for HIST1H2AK Gene

Aliases for HIST1H2AK Gene

  • Histone Cluster 1 H2A Family Member K 2 3 5
  • H2A Histone Family, Member D 2 3
  • Histone Cluster 1, H2ak 2 3
  • Histone H2A/Ptl 3 4
  • Histone 1, H2ak 2 3
  • H2A.1 3 4
  • H2AFD 3 4
  • HIST1H2AG HIST1H2AI HIST1H2AK HIST1H2AL HIST1H2AM 4
  • Histone H2A Type 1-J 3
  • Histone H2A Type 1 3
  • H2AFP 4
  • H2AFC 4
  • H2AFI 4
  • H2AFN 4
  • H2A/D 3

External Ids for HIST1H2AK Gene

Previous HGNC Symbols for HIST1H2AK Gene

  • H2AFD

Previous GeneCards Identifiers for HIST1H2AK Gene

  • GC06M027863
  • GC06M027913
  • GC06M027807
  • GC06M027613
  • GC06M027844
  • GC06M027851
  • GC06M027854
  • GC06M027855
  • GC06M028002
  • GC06M028031
  • GC06M028069

Summaries for HIST1H2AK Gene

Entrez Gene Summary for HIST1H2AK 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 HIST1H2AK Gene

HIST1H2AK (Histone Cluster 1 H2A Family Member K) is a Protein Coding gene. Diseases associated with HIST1H2AK include Bainbridge-Ropers Syndrome. 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 enzyme binding. An important paralog of this gene is HIST1H2AM.

UniProtKB/Swiss-Prot for HIST1H2AK 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 HIST1H2AK Gene

Additional gene information for HIST1H2AK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AK Gene

Genomics for HIST1H2AK Gene

GeneHancer (GH) Regulatory Elements for HIST1H2AK Gene

Promoters and enhancers for HIST1H2AK 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
GH06I027834 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.6 +1.0 1046 6.4 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 SP3 NFYC MEF2D HIST1H2BN HIST1H2AK GC06M027849 ZKSCAN3 ZKSCAN8 ZKSCAN4 ZSCAN9 ZSCAN12 HIST1H3J GUSBP2
GH06I027887 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 -55.1 -55142 11.9 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 NFYC SSRP1 ZNF610 RCOR2 HIST1H2AM HIST1H2BO HIST1H3J GC06M028114 PIR50251 PIR45952 PIR61297 PIR62073 ZKSCAN8 ZKSCAN3
GH06I027161 Enhancer 1.2 Ensembl ENCODE 10.1 +676.2 676206 1.1 HDGF ATF1 ARNT ZNF2 NCOA2 GTF3C2 ZNF766 ZNF213 ARID2 ZNF143 GC06P027188 TRT-AGT6-1 ZNF322 ZKSCAN8 LOC102724851 HIST1H2AK HIST1H2BN HIST1H4K PRSS16 TRH-GTG1-5
GH06I027805 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.8 +26.2 26224 12.7 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 NFYC HIST1H2AI HIST1H3H HIST1H2BM HIST1H2AJ HIST1H2BL ZKSCAN3 ZKSCAN8 ZNF603P ZSCAN9 ZKSCAN4
GH06I028104 Enhancer 1.6 FANTOM5 Ensembl ENCODE 3.4 -266.6 -266571 1.8 PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF603P ZNF165 ZKSCAN8 ZKSCAN3 ZKSCAN4 ZSCAN12 TRIM27 ZNF192P1 HIST1H2AK HIST1H4K
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIST1H2AK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H2AK gene promoter:

Genomic Locations for HIST1H2AK Gene

Genomic Locations for HIST1H2AK Gene
chr6:27,837,880-27,838,339
(GRCh38/hg38)
Size:
460 bases
Orientation:
Minus strand
chr6:27,805,658-27,806,117
(GRCh37/hg19)

Genomic View for HIST1H2AK Gene

Genes around HIST1H2AK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AK Gene

Proteins for HIST1H2AK Gene

  • Protein details for HIST1H2AK Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for HIST1H2AK 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 HIST1H2AK Gene

neXtProt entry for HIST1H2AK Gene

Post-translational modifications for HIST1H2AK 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 isoforms=14 and isoforms=16

Other Protein References for HIST1H2AK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AK Gene

Domains & Families for HIST1H2AK Gene

Gene Families for HIST1H2AK Gene

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

Protein Domains for HIST1H2AK Gene

Suggested Antigen Peptide Sequences for HIST1H2AK Gene

GenScript: Design optimal peptide antigens:

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 HIST1H2AK: view

Function for HIST1H2AK Gene

Molecular function for HIST1H2AK 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 HIST1H2AK Gene

Gene Ontology (GO) - Molecular Function for HIST1H2AK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
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 HIST1H2AK: view
genes like me logo Genes that share phenotypes with HIST1H2AK: view

miRNA for HIST1H2AK Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AK Gene

Localization for HIST1H2AK Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AK 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 HIST1H2AK gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AK 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 IDA,HDA 20458337
genes like me logo Genes that share ontologies with HIST1H2AK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H2AK Gene

Pathways & Interactions for HIST1H2AK Gene

genes like me logo Genes that share pathways with HIST1H2AK: view

Pathways by source for HIST1H2AK Gene

Gene Ontology (GO) - Biological Process for HIST1H2AK 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 HIST1H2AK: view

No data available for SIGNOR curated interactions for HIST1H2AK Gene

Drugs & Compounds for HIST1H2AK Gene

No Compound Related Data Available

Transcripts for HIST1H2AK Gene

mRNA/cDNA for HIST1H2AK Gene

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

Unigene Clusters for HIST1H2AK Gene

Histone cluster 1, H2ak:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AK Gene

No ASD Table

Relevant External Links for HIST1H2AK Gene

GeneLoc Exon Structure for
HIST1H2AK
ECgene alternative splicing isoforms for
HIST1H2AK

Expression for HIST1H2AK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2AK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIST1H2AK 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 HIST1H2AK Gene



Protein tissue co-expression partners for HIST1H2AK Gene

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AK Gene:

HIST1H2AK

SOURCE GeneReport for Unigene cluster for HIST1H2AK Gene:

Hs.734717

Evidence on tissue expression from TISSUES for HIST1H2AK Gene

  • Intestine(4.2)
  • Spleen(4)
genes like me logo Genes that share expression patterns with HIST1H2AK: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AK Gene

Orthologs for HIST1H2AK Gene

This gene was present in the common ancestor of mammals.

Orthologs for HIST1H2AK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC471909 33
  • 90 (n)
mouse
(Mus musculus)
Mammalia Hist1h2ac 33 16
  • 88.46 (n)
dog
(Canis familiaris)
Mammalia LOC483168 33
  • 85.9 (n)
cow
(Bos Taurus)
Mammalia HIST2H2AA4 33
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Hist1h2af 33
  • 84.62 (n)
Species where no ortholog for HIST1H2AK 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)
  • 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 HIST1H2AK Gene

ENSEMBL:
Gene Tree for HIST1H2AK (if available)
TreeFam:
Gene Tree for HIST1H2AK (if available)

Paralogs for HIST1H2AK Gene

Variants for HIST1H2AK Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AK Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000325118 -- 27,838,750(-) G/A upstream_transcript_variant
rs1001599861 -- 27,840,121(-) T/G upstream_transcript_variant
rs1003218323 -- 27,840,097(-) C/A upstream_transcript_variant
rs1003529689 -- 27,837,384(-) C/G downstream_transcript_variant
rs1005311435 -- 27,839,714(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AK Gene

Variant ID Type Subtype PubMed ID
esv3608441 CNV gain 21293372
nsv969367 CNV duplication 23825009

Variation tolerance for HIST1H2AK Gene

Residual Variation Intolerance Score: 67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H2AK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AK Gene

Disorders for HIST1H2AK Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIST1H2AK Gene - From: GeneCards

Disorder Aliases PubMed IDs
bainbridge-ropers syndrome
  • brps
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIST1H2AK

genes like me logo Genes that share disorders with HIST1H2AK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIST1H2AK Gene

Publications for HIST1H2AK 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. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S … Dantuma NP (Genes & development 2006) 3 4 58
  5. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T … Yamada M (Biochemistry 2005) 3 4 58

Products for HIST1H2AK Gene

Sources for HIST1H2AK Gene

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