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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 H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC13 (H2A Clustered Histone 13) is a Protein Coding gene. Diseases associated with H2AC13 include Wilson-Turner X-Linked Mental Retardation Syndrome 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 H2AC11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 15161933 |
GO:0019899 | enzyme binding | IPI | 17980597 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | IEA | -- |
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,IDA | 16319397 |
GO:0005694 | chromosome | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 20458337 |
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 | IBA | 21873635 |
GO:0006342 | chromatin silencing | IBA | 21873635 |
GO:0008150 | biological_process | ND | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
ManyToMany | |
LOC471895 30 |
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Cow (Bos Taurus) |
Mammalia | HIST1H2AG 31 |
|
OneToMany | |
LOC617905 30 |
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Mouse (Mus musculus) |
Mammalia | Hist1h2an 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HIST1H2AI 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.349 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100006331 30 |
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||
Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG33893 30 |
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||
Worm (Caenorhabditis elegans) |
Secernentea | his-31 30 |
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||
Rice (Oryza sativa) |
Liliopsida | Os10g0539500 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3890803 | CNV | loss | 25118596 |
nsv1017057 | CNV | gain | 25217958 |
nsv830618 | CNV | gain | 17160897 |
nsv969366 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wilson-turner x-linked mental retardation syndrome |
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riddle syndrome |
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syndromic x-linked intellectual disability |
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syndromic intellectual disability |
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fanconi anemia, complementation group a |
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