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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
H2AC1 (H2A Clustered Histone 1) is a Protein Coding gene. Diseases associated with H2AC1 include Amelogenesis Imperfecta, Type Iiia and Riddle Syndrome. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AC21.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA | 21873635 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | nuclear chromosome, telomeric region | HDA | 19135898 |
GO:0000786 | nucleosome | IEA | -- |
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,HDA | 21630459 |
GO:0005694 | chromosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
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2 | Chromatin organization | ||
3 | Deubiquitination |
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4 | Metabolism of proteins | ||
5 | Chromatin Regulation / Acetylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA,IBA | 21873635 |
GO:0006342 | chromatin silencing | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HIST1H2AA 31 |
|
OneToOne | |
LOC462486 30 |
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Dog (Canis familiaris) |
Mammalia | HIST1H2AA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hist1h2ak 30 |
|
||
H2ac15 17 |
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Cow (Bos Taurus) |
Mammalia | HIST1H2AG 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | zgc:163047 31 |
|
ManyToMany | |
zgc:101846 31 |
|
ManyToMany | |||
si:ch211-113a14.19 31 31 31 31 31 31 |
|
ManyToMany | |||
zgc:195633 31 31 31 |
|
ManyToMany | |||
zgc:154164 31 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3570813 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type iiia |
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riddle syndrome |
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