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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]
H4C5 (H4 Clustered Histone 5) is a Protein Coding gene. Diseases associated with H4C5 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 H4C6.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH06J026193 | Promoter/Enhancer | 2.1 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 0.7 | -3.8 | -3760 | 14.6 | ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 | H2AC7 H2BC7 H3C4 ENSG00000282988 RPS10P1 ABT1 BTN2A2 BTN2A1 HMGN4 BTN2A3P | |
GH06J026211 | Enhancer | 0.7 | Ensembl | 0.4 | +7.4 | 7449 | 1.2 | CREB1 PKNOX1 NR2C1 CTCF NCOR1 ARNT ZNF318 PBX2 POLR2A MNT | HSALNG0048742 LARP1P1 H2BC5 H1-4 H4C8 H2AC10P H2BC8 piR-54826 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
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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 eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | LOC517138 30 |
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Chimpanzee (Pan troglodytes) |
Mammalia | LOC472228 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101733182 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC564610 30 |
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wufe37d09 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012885 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG33907 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | his-56 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G07660 30 |
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Rice (Oryza sativa) |
Liliopsida | Os03g0119900 30 |
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SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
809888 | Uncertain Significance: not provided | 26,204,780(+) | C/T | MISSENSE_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 1 |
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hyperinsulinemic hypoglycemia, familial, 2 |
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hyperoxaluria, primary, type i |
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meier-gorlin syndrome 1 |
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carbohydrate metabolic disorder |
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