Gene: H1-4
Alternate names for this Gene: H1.4|H1E|H1F4|H1s-4|HIST1H1E|RMNS|dJ221C16.5
Gene Summary: 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6p22.2
Description of this Gene: H1.4 linker histone, cluster member
Type of Gene: protein-coding
Gene: H2BC5
Alternate names for this Gene: H2B.1B|H2B/a|H2B/b|H2B/g|H2B/h|H2B/k|H2B/l|H2BFA|H2BFB|H2BFG|H2BFH|H2BFK|H2BFL|HIRIP2|HIST1H2BC|HIST1H2BD|HIST1H2BE|HIST1H2BF|HIST1H2BG|HIST1H2BI|dJ221C16.6
Gene Summary: 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 H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3.
Gene is located in Chromosome: 6
Location in Chromosome : 6p22.2
Description of this Gene: H2B clustered histone 5
Type of Gene: protein-coding
rs1131690805 in
H1-4;H2BC5 gene and
Dysmorphic features
PMID 25081361 2015 Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 23945933 2013 H1 histones: current perspectives and challenges.
rs1131690805 in
H1-4;H2BC5 gene and
Muscle hypotonia
PMID 25081361 2015 Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 23945933 2013 H1 histones: current perspectives and challenges.