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Histones are basic nuclear proteins responsible for 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 H1 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]
H1-4 (H1.4 Linker Histone, Cluster Member) is a Protein Coding gene. Diseases associated with H1-4 include Rahman Syndrome and Helsmoortel-Van Der Aa Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Signaling events mediated by HDAC Class III. An important paralog of this gene is H1-5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003690 | double-stranded DNA binding | IBA | 21873635 |
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | IEA | -- |
GO:0000788 | nuclear nucleosome | IEA | -- |
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IBA,IDA | 17540172 |
GO:0005694 | chromosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic execution phase |
.31
|
|
2 | Apoptosis induced DNA fragmentation | ||
3 | Cellular Senescence (REACTOME) | ||
4 | DNA Damage/Telomere Stress Induced Senescence | ||
5 | Chromatin Regulation / Acetylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006334 | nucleosome assembly | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0016584 | nucleosome positioning | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HIST1H1E 31 |
|
OneToOne | |
LOC471881 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | HIST1H1E 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hist1h1e 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HIST1H1E 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | HIST1H111L 31 |
|
ManyToMany | |
HIST1H111R 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.806 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.494 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CU457819.3 31 |
|
ManyToMany | |
CABZ01086354.1 31 |
|
ManyToMany | |||
si:ch211-113a14.12 31 |
|
ManyToMany | |||
FP325123.1 31 |
|
ManyToMany | |||
zgc:153405 31 |
|
ManyToMany | |||
si:dkey-261m9.12 31 |
|
ManyToMany | |||
si:ch211-113a14.24 31 |
|
ManyToMany | |||
si:ch211-113a14.18 31 |
|
ManyToMany | |||
si:dkey-108k21.14 31 |
|
ManyToMany | |||
si:dkey-108k21.10 31 |
|
ManyToMany | |||
zgc:163061 31 31 |
|
ManyToMany | |||
zgc:110425 31 |
|
ManyToMany | |||
histh1l 31 |
|
ManyToMany | |||
si:dkey-108k21.21 31 |
|
ManyToMany | |||
-- 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635256 | Pathogenic/Likely Pathogenic: RAHMAN SYNDROME | 26,156,797(+) | A/AG | FRAMESHIFT_VARIANT | |
635257 | Pathogenic: RAHMAN SYNDROME | 26,156,801(+) | G/GC | FRAMESHIFT_VARIANT | |
635258 | Pathogenic: RAHMAN SYNDROME | 26,156,815(+) | CGGGGGC/AGGGGGTT | ||
635259 | Pathogenic: RAHMAN SYNDROME | 26,156,815(+) | C/AG | FRAMESHIFT_VARIANT | |
635260 | Pathogenic: RAHMAN SYNDROME | 26,156,836(+) | A/AG | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv375n21 | CNV | loss | 19592680 |
dgv5926n100 | CNV | gain | 25217958 |
esv3608394 | CNV | loss | 21293372 |
esv3608395 | CNV | gain | 21293372 |
nsv1023453 | CNV | gain | 25217958 |
nsv428137 | CNV | loss | 18775914 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rahman syndrome |
|
|
helsmoortel-van der aa syndrome |
|
|
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
|
|
weaver syndrome |
|
|