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Aliases for HIST1H3C Gene

Aliases for HIST1H3C Gene

  • Histone Cluster 1 H3 Family Member C 2 3 5
  • H3 Histone Family, Member C 2 3
  • Histone Cluster 1, H3c 2 3
  • Histone 1, H3c 2 3
  • Histone H3/C 3 4
  • H3FC 3 4
  • HIST1H3A HIST1H3B HIST1H3C HIST1H3D HIST1H3E HIST1H3F HIST1H3G HIST1H3H HIST1H3I HIST1H3J 4
  • Histone H3.1 3
  • Histone H3/A 4
  • Histone H3/B 4
  • Histone H3/D 4
  • Histone H3/F 4
  • Histone H3/H 4
  • Histone H3/I 4
  • Histone H3/J 4
  • Histone H3/K 4
  • Histone H3/L 4
  • H3FA 4
  • H3FB 4
  • H3FD 4
  • H3FF 4
  • H3FH 4
  • H3FI 4
  • H3FJ 4
  • H3FK 4
  • H3FL 4
  • H3.1 3
  • H3/C 3

External Ids for HIST1H3C Gene

Previous HGNC Symbols for HIST1H3C Gene

  • H3FC

Previous GeneCards Identifiers for HIST1H3C Gene

  • GC06P026103
  • GC06P026153
  • GC06P026046
  • GC06P025988
  • GC06P026049
  • GC06P026051
  • GC06P026053
  • GC06P026057
  • GC06P026060
  • GC06P026065
  • GC06P026069

Summaries for HIST1H3C Gene

Entrez Gene Summary for HIST1H3C 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 H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H3C Gene

HIST1H3C (Histone Cluster 1 H3 Family Member C) is a Protein Coding gene. Diseases associated with HIST1H3C include Diffuse Intrinsic Pontine Glioma. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and histone binding. An important paralog of this gene is HIST1H3E.

UniProtKB/Swiss-Prot for HIST1H3C 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 HIST1H3C Gene

Additional gene information for HIST1H3C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H3C Gene

Genomics for HIST1H3C Gene

GeneHancer (GH) Regulatory Elements for HIST1H3C Gene

Promoters and enhancers for HIST1H3C 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
GH06I026042 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.6 -581 4.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 HIST1H2APS5 GC06P026043 GC06P026059 HIST1H2BB HIST1H3C ENSG00000272462 HMGN4 ABT1 BTN3A2 BTN2A1
GH06I026120 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.6 +78.6 78563 7.8 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SP3 NFYC SSRP1 HIST1H2AC HIST1H2BC PIR32750 PIR33095 PIR44445 ABT1 HMGN4 BTN2A3P BTN2A1 BTN2A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIST1H3C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H3C gene promoter:

Genomic Locations for HIST1H3C Gene

Genomic Locations for HIST1H3C Gene
chr6:26,045,411-26,045,869
(GRCh38/hg38)
Size:
459 bases
Orientation:
Plus strand
chr6:26,045,639-26,046,097
(GRCh37/hg19)

Genomic View for HIST1H3C Gene

Genes around HIST1H3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H3C Gene

Proteins for HIST1H3C Gene

  • Protein details for HIST1H3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68431-H31_HUMAN
    Recommended name:
    Histone H3.1
    Protein Accession:
    P68431
    Secondary Accessions:
    • A0PJT7
    • A5PLR1
    • P02295
    • P02296
    • P16106
    • Q6ISV8
    • Q6NWP8
    • Q6NWP9
    • Q6NXU4
    • Q71DJ3
    • Q93081

    Protein attributes for HIST1H3C Gene

    Size:
    136 amino acids
    Molecular mass:
    15404 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.
    • 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.
    Miscellaneous:
    • This histone is only present in mammals and is enriched in acetylation of Lys-15 and dimethylation of Lys-10 (H3K9me2).

    Three dimensional structures from OCA and Proteopedia for HIST1H3C Gene

neXtProt entry for HIST1H3C Gene

Post-translational modifications for HIST1H3C Gene

  • Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.
  • Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3 of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.
  • Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.
  • Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.
  • 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.
  • Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression (PubMed:22483618).
  • Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at Lys-120. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.
  • Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination (By similarity). Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.
  • Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Thr-12 (H3T11ph) by chromatin-associated CHEK1 regulates the transcription of cell cycle regulatory genes by modulating acetylation of Lys-10 (H3K9ac). Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.
  • Ubiquitination at isoforms=116

Other Protein References for HIST1H3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H3C Gene

Domains & Families for HIST1H3C Gene

Gene Families for HIST1H3C Gene

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

Protein Domains for HIST1H3C Gene

Graphical View of Domain Structure for InterPro Entry

P68431

UniProtKB/Swiss-Prot:

H31_HUMAN :
  • Belongs to the histone H3 family.
Family:
  • Belongs to the histone H3 family.
genes like me logo Genes that share domains with HIST1H3C: view

No data available for Suggested Antigen Peptide Sequences for HIST1H3C Gene

Function for HIST1H3C Gene

Molecular function for HIST1H3C 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.

Gene Ontology (GO) - Molecular Function for HIST1H3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 10949293
GO:0031492 nucleosomal DNA binding IBA --
GO:0042393 histone binding IPI --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with HIST1H3C: view
genes like me logo Genes that share phenotypes with HIST1H3C: view

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H3C Gene

Localization for HIST1H3C 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 HIST1H3C gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 14718166
GO:0000784 nuclear chromosome, telomeric region IDA --
GO:0000786 nucleosome IDA,IBA 21636898
GO:0000788 nuclear nucleosome IDA 20498094
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with HIST1H3C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H3C Gene

Pathways & Interactions for HIST1H3C Gene

SuperPathways for HIST1H3C Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence (REACTOME)
3 Cell Cycle, Mitotic
.60
4 Chromatin organization
5 Mitotic Prophase
genes like me logo Genes that share pathways with HIST1H3C: view

Interacting Proteins for HIST1H3C Gene

Selected Interacting proteins: P68431-H31_HUMAN for HIST1H3C Gene via IID MINT UniProtKB

Symbol External ID(s) Details
SGF29
AIRE
CBX1
CBX5
WDR5

Gene Ontology (GO) - Biological Process for HIST1H3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA TAS --
GO:0006325 chromatin organization TAS --
GO:0006334 nucleosome assembly IBA,IMP 25615412
GO:0006335 DNA replication-dependent nucleosome assembly IDA 14718166
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with HIST1H3C: view

No data available for SIGNOR curated interactions for HIST1H3C Gene

Drugs & Compounds for HIST1H3C Gene

No Compound Related Data Available

Transcripts for HIST1H3C Gene

mRNA/cDNA for HIST1H3C Gene

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

Unigene Clusters for HIST1H3C Gene

Histone cluster 1, H3c:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H3C Gene

No ASD Table

Relevant External Links for HIST1H3C Gene

GeneLoc Exon Structure for
HIST1H3C
ECgene alternative splicing isoforms for
HIST1H3C

Expression for HIST1H3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HIST1H3C Gene

This gene is overexpressed in Testis (x8.7) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for HIST1H3C Gene

This gene is overexpressed in Heart (41.5), Urine (13.4), and Cervix (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIST1H3C Gene



Protein tissue co-expression partners for HIST1H3C Gene

NURSA nuclear receptor signaling pathways regulating expression of HIST1H3C Gene:

HIST1H3C

SOURCE GeneReport for Unigene cluster for HIST1H3C Gene:

Hs.248176

Evidence on tissue expression from TISSUES for HIST1H3C Gene

  • Nervous system(4.4)
  • Blood(4.2)
  • Spleen(4.1)
  • Stomach(4)
genes like me logo Genes that share expression patterns with HIST1H3C: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H3C Gene

Orthologs for HIST1H3C Gene

This gene was present in the common ancestor of animals.

Orthologs for HIST1H3C Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC488263 33
  • 87.01 (n)
mouse
(Mus musculus)
Mammalia Hist2h3c1 33 16
  • 86.27 (n)
cow
(Bos Taurus)
Mammalia LOC616800 33
  • 85.54 (n)
chimpanzee
(Pan troglodytes)
Mammalia LOC100608783 33
  • 84.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497406 33
  • 83.33 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-113a14.14 33
  • 80.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta His3:CG33863 33
  • 81.62 (n)
Species where no ortholog for HIST1H3C 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for HIST1H3C Gene

ENSEMBL:
Gene Tree for HIST1H3C (if available)
TreeFam:
Gene Tree for HIST1H3C (if available)

Paralogs for HIST1H3C Gene

(9) SIMAP similar genes for HIST1H3C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HIST1H3C: view

Variants for HIST1H3C Gene

Sequence variations from dbSNP and Humsavar for HIST1H3C Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000064690 -- 26,044,480(+) G/C/T upstream_transcript_variant
rs1001071216 -- 26,045,591(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs1002040428 -- 26,044,760(+) C/T upstream_transcript_variant
rs1002091133 -- 26,045,001(+) G/A/C upstream_transcript_variant
rs1003765329 -- 26,045,916(+) G/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIST1H3C Gene

Variant ID Type Subtype PubMed ID
dgv5926n100 CNV gain 25217958
nsv1023453 CNV gain 25217958
nsv1026692 CNV loss 25217958
nsv428137 CNV loss 18775914
nsv509122 CNV insertion 20534489

Variation tolerance for HIST1H3C Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIST1H3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H3C Gene

Disorders for HIST1H3C Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIST1H3C Gene - From: GeneCards

Disorder Aliases PubMed IDs
diffuse intrinsic pontine glioma
  • dipg
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

H31_HUMAN
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:22286216}. Note=The gene represented in this entry is involved in disease pathogenesis. HIST1H3B mutations affecting residue Lys-28 involved in post-translational modifications of histone H3.1 are recurrent in malignant, aggressive gliomas including pediatric non-brain stem glioblastoma and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histone methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23603901). {ECO:0000269 PubMed:22286216, ECO:0000269 PubMed:23603901}.
  • Note=HIST1H3B or HIST1H3C mutations affecting residue Lys-37 of histone H3.1 are involved in the pathogenesis of pediatric undifferentiated soft tissue sarcomas. The mechanism through which mutations lead to tumorigenesis involves altered histones methylation with gain of global H3K27 methylation, altered Polycomb repressive complex 1 (PRC1) activity, aberrant epigenetic regulation of gene expression and impaired differentiation of mesenchimal progenitor cells. {ECO:0000269 PubMed:27174990}.

Additional Disease Information for HIST1H3C

genes like me logo Genes that share disorders with HIST1H3C: view

No data available for Genatlas for HIST1H3C Gene

Publications for HIST1H3C Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 58
  2. Human histone gene organization: nonregular arrangement within a large cluster. (PMID: 9119399) Albig W … Doenecke D (Genomics 1997) 2 3 4 58
  3. Association of a human H1 histone gene with an H2A pseudogene and genes encoding H2B.1 and H3.1 histones. (PMID: 8227173) Kardalinou E … Doenecke D (Journal of cellular biochemistry 1993) 2 3 4 58
  4. Expression patterns and post-translational modifications associated with mammalian histone H3 variants. (PMID: 16267050) Hake SB … Hunt DF (The Journal of biological chemistry 2006) 3 4 58
  5. Molecular basis for the recognition of phosphorylated and phosphoacetylated histone h3 by 14-3-3. (PMID: 16246723) Macdonald N … Mahadevan LC (Molecular cell 2005) 3 4 58

Products for HIST1H3C Gene

Sources for HIST1H3C Gene

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