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 H3C4 Gene
Aliases for H3C4 Gene
External Ids for H3C4 Gene
- HGNC: 4767
- Entrez Gene: 8351
- Ensembl: ENSG00000197409
- OMIM: 602811
- UniProtKB: P68431
Previous HGNC Symbols for H3C4 Gene
- H3FB
- HIST1H3D
Summaries for H3C4 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 H3C4 Gene
H3C4 (H3 Clustered Histone 4) is a Protein Coding gene. Diseases associated with H3C4 include Brain Stem Cancer and Brain Stem Glioma. Among its related pathways are Cellular Senescence (REACTOME) and Meiosis. An important paralog of this gene is H3C6.
UniProtKB/Swiss-Prot Summary for H3C4 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.
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H3C4 Gene
Genomics for H3C4 Gene
GeneHancer (GH) Regulatory Elements for H3C4 Gene
Promoters and enhancers for H3C4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around H3C4 on UCSC Golden Path with GeneCards custom track
Genomic Locations for H3C4 Gene
Genomic Locations for H3C4 Gene
- chr6:26,196,784-26,199,293
- (GRCh38/hg38)
- Size:
- 2,510 bases
- Orientation:
- Minus strand
- chr6:26,197,012-26,199,521
- (GRCh37/hg19)
- Size:
- 2,510 bases
- Orientation:
- Minus strand
Genomic View for H3C4 Gene
Genes around H3C4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
H3C4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for H3C4 Gene
Proteins for H3C4 Gene
-
Protein details for H3C4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P68431-H31_HUMAN
- Recommended name:
- Histone H3.1
- Protein Accession:
- P68431
- A0PJT7
- A5PLR1
- P02295
- P02296
- P16106
- Q6ISV8
- Q6NWP8
- Q6NWP9
- Q6NXU4
- Q71DJ3
- Q93081
Protein attributes for H3C4 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.
- Miscellaneous:
-
- This histone is only present in mammals and is enriched in acetylation of Lys-15 and dimethylation of Lys-10 (H3K9me2).
Post-translational modifications for H3C4 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.
- Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.
- Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711).
- Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:30257210). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).
-
Ubiquitination at Lys116
- NX_P68431 (NX_P68431-1)
- Modification sites at PhosphoSitePlus
Other Protein References for H3C4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for H3C4
-
Abcam antibodies for H3C4
- Invitrogen Antibodies for H3C4 (AFLGC-HIST1H3D)
- antibodies-online: Show 16 available HIST1H3D Antibodies ranked by validation data
Protein Products
-
OriGene Purified Proteins for H3C4
- Search Origene for MassSpec and Protein Over-expression Lysates for H3C4
- Origene Custom Protein Services for H3C4
-
Abcam proteins for H3C4
No data available for DME Specific Peptides for H3C4 Gene
Domains & Families for H3C4 Gene
Gene Families for H3C4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for H3C4 Gene
- InterPro:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
P68431- Family:
-
- Belongs to the histone H3 family.
No data available for Suggested Antigen Peptide Sequences for H3C4 Gene
Function for H3C4 Gene
Molecular function for H3C4 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 H3C4 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 | 21873635 |
| GO:0045296 | cadherin binding | HDA | 25468996 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for H3C4 Gene
- GenomeRNAi human phenotypes for H3C4:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- G0/1 arrest
- Decreased cell number
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability in esophageal squamous lineage
- Increased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased viability
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for H3C4 - Select products 50% OFF >
- * H3C4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * H3C4 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for H3C4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for H3C4
- genomics-online: gRNA clones - Search for available HIST1H3D gRNA products
- Overview of 67 available HIST1H3D gene related products
miRNA for H3C4 Gene
- miRTarBase miRNAs that target H3C4
-
- hsa-mir-34a-5p (MIRT025449)
- hsa-mir-98-5p (MIRT027647)
- hsa-mir-760 (MIRT036795)
- hsa-mir-181d-5p (MIRT041168)
- hsa-mir-193b-3p (MIRT041518)
- hsa-mir-423-3p (MIRT042478)
- hsa-mir-221-3p (MIRT046854)
- hsa-mir-92a-3p (MIRT049044)
- hsa-mir-6822-3p (MIRT360280)
- hsa-mir-5693 (MIRT511646)
- hsa-mir-659-3p (MIRT511647)
- hsa-mir-487b-5p (MIRT511648)
- hsa-mir-487a-5p (MIRT511649)
- hsa-mir-6839-3p (MIRT511650)
- hsa-mir-4507 (MIRT511651)
- hsa-mir-3940-5p (MIRT511652)
- hsa-mir-8057 (MIRT511653)
- hsa-mir-629-5p (MIRT511654)
- hsa-mir-4766-5p (MIRT511655)
- hsa-mir-146a-3p (MIRT511656)
- hsa-mir-1276 (MIRT511657)
- hsa-mir-5682 (MIRT523212)
- hsa-mir-585-5p (MIRT523213)
- hsa-mir-1273g-5p (MIRT523214)
- hsa-mir-92a-1-5p (MIRT523215)
- hsa-mir-876-3p (MIRT523216)
- hsa-mir-181b-5p (MIRT727492)
- hsa-mir-181c-5p (MIRT727493)
- hsa-mir-181a-5p (MIRT727494)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for H3C4
- Browse OriGene Inhibitory RNA Products For H3C4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H3C4
- genomics-online: shRNA clones - Search for available HIST1H3D shRNA products
- Overview of 67 available HIST1H3D gene related products
Clone Products
- Applied Biological Materials (abm): Clones for H3C4 - Select products 50% OFF >
- * H3C4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * H3C4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for H3C4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for H3C4
Cell Line Products
-
Horizon Cell Lines for H3C4
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H3C4 Gene
Localization for H3C4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for H3C4 Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | IDA | 14718166 |
| GO:0000786 | nucleosome | IDA,IBA | 21636898 |
| GO:0000788 | nuclear nucleosome | IDA | 20498094 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IBA,IDA | 21636898 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for H3C4 Gene
Pathways & Interactions for H3C4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.34
|
| 2 | Cellular Senescence (REACTOME) | ||
| 3 | Cell Cycle, Mitotic |
.83
|
.60
|
| 4 | Chromatin organization | ||
| 5 | Mitotic Prophase |
.57
|
|
Pathways by source for H3C4 Gene
1 BioSystems pathway for H3C4 Gene
54 Reactome pathways for H3C4 Gene
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activation of HOX genes during differentiation
- Amyloid fiber formation
- B-WICH complex positively regulates rRNA expression
3 KEGG pathways for H3C4 Gene
8 Qiagen pathways for H3C4 Gene
- Crosstalk Between CARM1 and ESRs
- ERK Signaling
- Interferon Pathway
- MAPK Family Pathway
- Nuclear Receptor Activation by Vitamin-A
Interacting Proteins for H3C4 Gene
GPS-Prot Interaction Network for H3C4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000183 | chromatin silencing at rDNA | TAS | -- |
| GO:0006325 | chromatin organization | TAS | -- |
| GO:0006334 | nucleosome assembly | IMP | 25615412 |
| GO:0006335 | DNA replication-dependent nucleosome assembly | IDA | 14718166 |
| GO:0007596 | blood coagulation | TAS | -- |
No data available for SIGNOR curated interactions for H3C4 Gene
Transcripts for H3C4 Gene
mRNA/cDNA for H3C4 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (30) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000356476 411 bps (ENST00000356476.2)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for H3C4 - Select products 50% OFF >
- * H3C4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * H3C4 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for H3C4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for H3C4
- genomics-online: gRNA clones - Search for available HIST1H3D gRNA products
- Overview of 67 available HIST1H3D gene related products
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for H3C4
- Browse OriGene Inhibitory RNA Products For H3C4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H3C4
- genomics-online: shRNA clones - Search for available HIST1H3D shRNA products
- Overview of 67 available HIST1H3D gene related products
Clone Products
- Applied Biological Materials (abm): Clones for H3C4 - Select products 50% OFF >
- * H3C4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * H3C4 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for H3C4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for H3C4
Expression for H3C4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Ovarian Somatic Cells Ovigerous Cord
NURSA nuclear receptor signaling pathways regulating expression of H3C4 Gene:
H3C4SOURCE GeneReport for Unigene cluster for H3C4 Gene:
Hs.532144Evidence on tissue expression from TISSUES for H3C4 Gene
- Nervous system(4.4)
- Blood(4.1)
- Spleen(4)
- Stomach(4)
Primer Products
-
OriGene qPCR primer pairs for H3C4
-
OriGene qPCR primer pairs and template standards for H3C4
- genomics-online: primer clones - Search for available HIST1H3D Primer products
- Overview of 67 available HIST1H3D gene related products
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H3C4 Gene
Orthologs for H3C4 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| mouse (Mus musculus) |
Mammalia | Hist1h3i 33 |
|
ManyToMany | |
| Hist1h3a 32 |
|
||||
| H3c1 17 |
|
||||
| chimpanzee (Pan troglodytes) |
Mammalia | -- 33 |
|
ManyToMany | |
| LOC462506 32 |
|
||||
| cow (Bos Taurus) |
Mammalia | -- 33 |
|
ManyToMany | |
| LOC525511 32 |
|
||||
| dog (Canis familiaris) |
Mammalia | -- 33 |
|
OneToMany | |
| LOC100684574 32 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | LOC691496 32 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487139 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100329422 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | His3:CG33848 32 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CSE4 35 |
|
|
|
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10591 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany | |
| -- 33 |
|
ManyToMany | |||
| Cin.15445 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.15445 32 |
|
- Species where no ortholog for H3C4 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)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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 H3C4 Gene
- ENSEMBL:
- Gene Tree for H3C4 (if available)
- TreeFam:
- Gene Tree for H3C4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for H3C4: view image
Paralogs for H3C4 Gene
Variants for H3C4 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000210523 | -- | 26,197,464(-) | C/T | intron_variant | |
| rs1000309773 | -- | 26,196,951(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1001285373 | -- | 26,200,351(-) | A/C | upstream_transcript_variant | |
| rs1001612008 | -- | 26,200,208(-) | T/A | upstream_transcript_variant | |
| rs1002049037 | -- | 26,197,865(-) | T/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv375n21 | CNV | loss | 19592680 |
| dgv5926n100 | CNV | gain | 25217958 |
| esv3608397 | CNV | loss | 21293372 |
| esv3608398 | CNV | loss | 21293372 |
| esv3608399 | CNV | gain | 21293372 |
| nsv1021294 | CNV | loss | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv428137 | CNV | loss | 18775914 |
Residual Variation Intolerance Score:
27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.20;
4.47% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for H3C4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- H3C4
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H3C4 Gene
Disorders for H3C4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brain stem cancer |
|
|
| brain stem glioma |
|
|
Search H3C4 in MalaCards
View complete list of genes associated with diseases
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 H3C4
No data available for Genatlas for H3C4 Gene
Publications for H3C4 Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 56
- Human histone gene organization: nonregular arrangement within a large cluster. (PMID: 9119399) Albig W … Doenecke D (Genomics 1997) 2 3 4 56
- 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 56
- 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 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
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Products for H3C4 Gene
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