Gene: H3-3A
Alternate names for this Gene: H3-3B|H3.3A|H3F3|H3F3A
Gene Summary: 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 contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family.
Gene is located in Chromosome: 1
Location in Chromosome : 1q42.12
Description of this Gene: H3.3 histone A
Type of Gene: protein-coding
rs1057519902 in
H3-3A gene and
Adrenocortical carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519903 in
H3-3A gene and
Astrocytoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519902 in
H3-3A gene and
Brain Neoplasms
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519902 in
H3-3A gene and
Brain Stem Glioma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1276519904 in
H3-3A gene and
Dysmorphic features
PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.
PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.
PMID 21782046 2011 The human histone H3 complement anno 2011.
PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
PMID 16472024 2009 Recognition and classification of histones using support vector machine.
PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.
PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.
PMID 25348405 2015 UniProt: a hub for protein information.
rs1057519903 in
H3-3A gene and
GLIOMA SUSCEPTIBILITY 1
PMID 23539269 2013 Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN.
PMID 22286061 2012 Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
PMID 22286216 2012 Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
rs1057519902 in
H3-3A gene and
Glioblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1276519904 in
H3-3A gene and
Muscle hypotonia
PMID 16472024 2009 Recognition and classification of histones using support vector machine.
PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.
PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
PMID 21782046 2011 The human histone H3 complement anno 2011.
PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.
PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.
PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.
rs1276519904 in
H3-3A gene and
Overgrowth
PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.
PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.
PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.
PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.
PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.
PMID 25348405 2015 UniProt: a hub for protein information.
PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
PMID 16472024 2009 Recognition and classification of histones using support vector machine.
PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.
PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
PMID 21782046 2011 The human histone H3 complement anno 2011.