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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 H4 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]
H4C3 (H4 Clustered Histone 3) is a Protein Coding gene. Diseases associated with H4C3 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Hyperinsulinemic Hypoglycemia, Familial, 1. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H4C5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA,TAS | 3035717 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 9540062 |
GO:0019904 | protein domain specific binding | IPI | 22368283 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IDA | 14718166 |
GO:0000784 | nuclear chromosome, telomeric region | HDA | 19135898 |
GO:0000786 | nucleosome | TAS | 3035717 |
GO:0000788 | nuclear nucleosome | IDA | 20498094 |
GO:0005576 | extracellular region | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.35
|
2 | DNA Double-Strand Break Repair |
.53
|
|
3 | Cellular Senescence (REACTOME) | ||
4 | Chromosome Maintenance | ||
5 | Cell Cycle, Mitotic |
.83
|
.60
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000183 | chromatin silencing at rDNA | TAS | -- |
GO:0006303 | double-strand break repair via nonhomologous end joining | TAS | -- |
GO:0006334 | nucleosome assembly | IBA,IDA | 20498094 |
GO:0006335 | DNA replication-dependent nucleosome assembly | IDA | 14718166 |
GO:0006336 | DNA replication-independent nucleosome assembly | IDA | 14718166 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | HIST1H4C 31 |
|
OneToOne | |
LOC100855431 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToMany | |
LOC465305 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | LOC100912489 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hist2h4 30 31 |
|
ManyToMany | |
H4c14 17 |
|
||||
Cow (Bos Taurus) |
Mammalia | LOC526789 30 |
|
||
Chicken (Gallus gallus) |
Aves | H4-I 31 |
|
OneToMany | |
HIST1H46L6 30 |
|
||||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hist1h4a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-261m9.9 31 |
|
ManyToMany | |
si:ch211-113a14.26 31 |
|
ManyToMany | |||
si:ch211-113a14.17 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG33897 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003909 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | his-38 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HHF1 33 |
|
|
|
HHF2 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G46320 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.15752 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os09g0433600 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716026 | Benign: not provided | 26,104,218(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5926n100 | CNV | gain | 25217958 |
esv3608393 | CNV | gain | 21293372 |
nsv1023453 | CNV | gain | 25217958 |
nsv428137 | CNV | loss | 18775914 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 2 |
|
|
hyperinsulinemic hypoglycemia, familial, 1 |
|
|
hyperoxaluria, primary, type i |
|
|
meier-gorlin syndrome 1 |
|
|
carbohydrate metabolic disorder |
|
|