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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]
H4C6 (H4 Clustered Histone 6) is a Protein Coding gene. Diseases associated with H4C6 include Hyperinsulinemic Hypoglycemia, Familial, 1 and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H4C5.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH06J026239 | Promoter/Enhancer | 1.7 | Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.8 | 1782 | 5.3 | CEBPG CREB1 POLR2A BACH1 SMAD5 IKZF2 SP1 TRIM22 GTF2F1 YY1 | H4C6 ABT1 HMGN4 H2AC10P BTN2A1 ZNF322 H4C7 | |
GH06J026245 | Enhancer | 0.3 | Ensembl | 0.7 | +4.9 | 4908 | 0.2 | MCM3 | H4C7 BTN2A3P HMGN4 ABT1 ZNF322 BTN2A1 LINC00240 H4C6 |
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
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2 | DNA Double-Strand Break Repair |
.53
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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 animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Rat (Rattus norvegicus) |
Mammalia | LOC102548682 30 |
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Mouse (Mus musculus) |
Mammalia | Hist1h4c 30 |
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H4c3 17 |
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Chimpanzee (Pan troglodytes) |
Mammalia | LOC457262 30 |
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Cow (Bos Taurus) |
Mammalia | LOC527388 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495622 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-113a14.9 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG31611 30 |
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SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719489 | Benign: not provided | 26,240,671(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5926n100 | CNV | gain | 25217958 |
nsv1021294 | CNV | loss | 25217958 |
nsv1023453 | CNV | gain | 25217958 |
nsv428137 | CNV | loss | 18775914 |
nsv601173 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 1 |
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hyperinsulinemic hypoglycemia, familial, 2 |
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meier-gorlin syndrome 1 |
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hyperoxaluria, primary, type i |
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carbohydrate metabolic disorder |
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