H2AC14 Gene (Protein Coding)

H2A Clustered Histone 14

GC06M033636
GIFtS:
27
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 ... See more...

Aliases for H2AC14 Gene

Aliases for H2AC14 Gene

  • H2A Clustered Histone 14 2 3 5
  • Histone Cluster 1 H2A Family Member J 2 3
  • H2A Histone Family, Member E 2 3
  • Histone Cluster 1, H2aj 2 3
  • Histone 1, H2aj 2 3
  • HIST1H2AJ 3 4
  • H2A/E 2 3
  • H2AFE 3 4
  • Histone H2A Type 1-J 4
  • Histone H2A/E 4
  • DJ160A22.4 3
  • H2AC14 5

External Ids for H2AC14 Gene

Previous HGNC Symbols for H2AC14 Gene

  • H2AFE
  • HIST1H2AJ

Previous GeneCards Identifiers for H2AC14 Gene

  • GC06M027817
  • GC06M029256

Summaries for H2AC14 Gene

Entrez Gene Summary for H2AC14 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 H2AC14 Gene

H2AC14 (H2A Clustered Histone 14) is a Protein Coding gene. Diseases associated with H2AC14 include Riddle Syndrome. Among its related pathways are Cellular Senescence (REACTOME) and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AC11.

UniProtKB/Swiss-Prot Summary for H2AC14 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 H2AC14 Gene

Additional gene information for H2AC14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AC14 Gene

Genomics for H2AC14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for H2AC14 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
GH06J027805 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 253 +1.6 1584 14.9 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 MYC IKZF1 ZNF600 SSRP1 JUND H2BC14 H2AC14 piR-45268-005 piR-54008 piR-57462 ZSCAN9 ZKSCAN4 ZKSCAN8 ZKSCAN3 ZSCAN12
GH06J027834 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.7 -22.6 -22564 6.5 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 JUND ZNF580 ZNF592 ATF2 H2BC15 H2AC15 HSALNG0048914 ZSCAN12 ZKSCAN3 ZSCAN9 ZKSCAN8 ZKSCAN4 ZSCAN26 PGBD1
GH06J027887 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4 -78.7 -78704 11.9 BCLAF1 SP1 MYC ZNF600 NCOR1 IKZF1 ZNF654 SSRP1 JUND ZNF592 H2BC17 H2AC17 H3C12 HSALNG0048927 piR-38252 piR-39028 piR-51953-002 piR-56252 ZKSCAN8 ZSCAN9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AC14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AC14

Genomic Locations for H2AC14 Gene

Latest Assembly
chr6:27,814,302-27,814,777
(GRCh38/hg38)
Size:
476 bases
Orientation:
Minus strand

Previous Assembly
chr6:27,782,080-27,782,555
(GRCh37/hg19 by Entrez Gene)
Size:
476 bases
Orientation:
Minus strand

Genomic View for H2AC14 Gene

Genes around H2AC14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AC14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AC14 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for H2AC14 Gene

Proteins for H2AC14 Gene

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  • Protein details for H2AC14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99878-H2A1J_HUMAN
    Recommended name:
    Histone H2A type 1-J
    Protein Accession:
    Q99878
    Secondary Accessions:
    • A2RUU6
    • Q5JXQ5

    Protein attributes for H2AC14 Gene

    Size:
    128 amino acids
    Molecular mass:
    13936 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 H2AC14 Gene

Post-translational modifications for H2AC14 Gene

  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 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 TRIM37 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.
  • 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).
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • 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 Lys16
  • Modification sites at PhosphoSitePlus

Other Protein References for H2AC14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AC14 Gene

Domains & Families for H2AC14 Gene

Gene Families for H2AC14 Gene

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

Protein Domains for H2AC14 Gene

InterPro:
Blocks:
  • Histone H2A

Suggested Antigen Peptide Sequences for H2AC14 Gene

GenScript: Design optimal peptide antigens:
  • Histone H2A/e (H2A1J_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99878

UniProtKB/Swiss-Prot:

H2A1J_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AC14: view

Function for H2AC14 Gene

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Molecular function for H2AC14 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 H2AC14 Gene

Gene Ontology (GO) - Molecular Function for H2AC14 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 H2AC14: view
genes like me logo Genes that share phenotypes with H2AC14: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AC14

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AC14 Gene

Localization for H2AC14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AC14 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 H2AC14 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for H2AC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0000786 nucleosome IEA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with H2AC14: view

Pathways & Interactions for H2AC14 Gene

PathCards logo

SuperPathways for H2AC14 Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
DNA methylation
.88
RNA Polymerase I Promoter Opening
.88
B-WICH complex positively regulates rRNA expression
.86
Positive epigenetic regulation of rRNA expression
.86
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
.86
SIRT1 negatively regulates rRNA Expression
.84
NoRC negatively regulates rRNA expression
.83
RNA Polymerase I Chain Elongation
.83
PRC2 methylates histones and DNA
.83
RNA Polymerase I Transcription
.81
Negative epigenetic regulation of rRNA expression
.81
RNA Polymerase I Promoter Clearance
.81
Condensation of Prophase Chromosomes
.78
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
.76
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
.75
Epigenetic regulation of gene expression
.73
RHO GTPases activate PKNs
.72
Formation of the beta-catenin-TCF transactivating complex
.64
HDACs deacetylate histones
.60
Amyloid fiber formation
.55
Activation of anterior HOX genes in hindbrain development during early embryogenesis
.50
Activation of HOX genes during differentiation
.50
Systemic lupus erythematosus
.43
RMTs methylate histone arginines
.39
Neutrophil extracellular trap formation
.38
Alcoholism
.35
2 Cellular Senescence (REACTOME)
Cellular Senescence
.64
Oxidative Stress Induced Senescence
.64
Senescence-Associated Secretory Phenotype (SASP)
.56
Cellular responses to stress
.44
3 Chromosome Maintenance
Chromosome Maintenance
.75
Telomere Maintenance
.75
Deposition of new CENPA-containing nucleosomes at the centromere
.66
Nucleosome assembly
.66
4 Cell Cycle, Mitotic
Cell Cycle
.83
Cell Cycle, Mitotic
.83
M Phase
.60
5 Chromatin organization
Chromatin modifying enzymes
.51
Chromatin organization
.51
HATs acetylate histones
.51
genes like me logo Genes that share pathways with H2AC14: view

Gene Ontology (GO) - Biological Process for H2AC14 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 H2AC14: view

No data available for SIGNOR curated interactions for H2AC14 Gene

Drugs & Compounds for H2AC14 Gene

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(1) Drugs for H2AC14 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with H2AC14: view

Transcripts for H2AC14 Gene

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mRNA/cDNA for H2AC14 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AC14

Alternative Splicing Database (ASD) splice patterns (SP) for H2AC14 Gene

No ASD Table

Relevant External Links for H2AC14 Gene

GeneLoc Exon Structure for
H2AC14

Expression for H2AC14 Gene

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  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AC14

SOURCE GeneReport for Unigene cluster for H2AC14 Gene:

Hs.406691
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AC14 Gene

Orthologs for H2AC14 Gene

This gene was present in the common ancestor of mammals.

Orthologs for H2AC14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC737087 29
  • 99.48 (n)
Cow
(Bos Taurus)
 Mammalia HIST1H2AJ 29
  • 90.36 (n)
Dog
(Canis familiaris)
 Mammalia LOC488304 29
  • 89.64 (n)
Mouse
(Mus musculus)
 Mammalia Hist1h2af 29
  • 88.28 (n)
H2ac10 16
Species where no ortholog for H2AC14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 H2AC14 Gene

ENSEMBL:
Gene Tree for H2AC14 (if available)
TreeFam:
Gene Tree for H2AC14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AC14: view image
Alliance of Genome Resources:
Additional Orthologs for H2AC14

Paralogs for H2AC14 Gene

Paralogs for H2AC14 Gene

Pseudogenes.org Pseudogenes for H2AC14 Gene

genes like me logo Genes that share paralogs with H2AC14: view

Variants for H2AC14 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for H2AC14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for H2AC14 Gene

Variant ID Type Subtype PubMed ID
esv3890803 CNV loss 25118596
nsv1017057 CNV gain 25217958
nsv830618 CNV gain 17160897
nsv970094 CNV duplication 23825009

Variation tolerance for H2AC14 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AC14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AC14
Leiden Open Variation Database (LOVD)
H2AC14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2AC14 Gene

Disorders for H2AC14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for H2AC14 Gene - From: GCD

Disorder Aliases PubMed IDs
riddle syndrome
  • ridl
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for H2AC14

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with H2AC14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AC14 Gene

Publications for H2AC14 Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4
  2. The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W … Doenecke D (Human genetics 1997) 2 3 4
  3. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3
  4. Interactome analysis reveals that lncRNA HULC promotes aerobic glycolysis through LDHA and PKM2. (PMID: 32572027) Wang C … Zhang N (Nature communications 2020) 3
  5. Glutarylation of Histone H4 Lysine 91 Regulates Chromatin Dynamics. (PMID: 31542297) Bao X … Li XD (Molecular cell 2019) 4

ExternalLinks

View latest publications for H2AC14 gene in Mastermind

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