H3-3A (H3.3 histone A)

2013-03-01  

Identity

HGNC
H3-3A
LOCATION
1q42.12
LOCUSID
3020
ALIAS
H3-3B,H3.3A,H3F3,H3F3A

Other Information

Locus ID:

NCBI: 3020
MIM: 601128
HGNC: 4764
Ensembl: ENSG00000163041

Variants:

dbSNP: 3020
ClinVar: 3020
TCGA: ENSG00000163041
COSMIC: H3-3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163041ENST00000366813P84243
ENSG00000163041ENST00000366813B2R4P9
ENSG00000163041ENST00000366814B4DEB1
ENSG00000163041ENST00000366815P84243
ENSG00000163041ENST00000366815B2R4P9
ENSG00000163041ENST00000366816P84243
ENSG00000163041ENST00000366816B2R4P9
ENSG00000163041ENST00000655399P84243
ENSG00000163041ENST00000655399B2R4P9
ENSG00000163041ENST00000661429P84243
ENSG00000163041ENST00000661429B2R4P9
ENSG00000163041ENST00000666609P84243
ENSG00000163041ENST00000666609B2R4P9
ENSG00000163041ENST00000667897A0A590UJJ6

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate PKNsREACTOMER-HSA-5625740
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3REACTOMER-HSA-5625886
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Promoter OpeningREACTOMER-HSA-73728
RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
Gene Silencing by RNAREACTOMER-HSA-211000
Transcriptional regulation by small RNAsREACTOMER-HSA-5578749
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
PRC2 methylates histones and DNAREACTOMER-HSA-212300
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
SIRT1 negatively regulates rRNA ExpressionREACTOMER-HSA-427359
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
DNA methylationREACTOMER-HSA-5334118
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Condensation of Prophase ChromosomesREACTOMER-HSA-2299718
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
Developmental BiologyREACTOMER-HSA-1266738
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
Senescence-Associated Secretory Phenotype (SASP)REACTOMER-HSA-2559582
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionREACTOMER-HSA-427389

References

Pubmed IDYearTitleCitations
222860612012Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.740
230796542012Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.516
235391832013Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma.375
226613202012K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.252
236039012013The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression.213
241836802013Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas.207
221959662011Dynamics of histone H3 deposition in vivo reveal a nucleosome gap-filling mechanism for H3.3 to maintain chromatin integrity.152
241627392013Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.152
170524642006PTMs on H3 variants before chromatin assembly potentiate their final epigenetic state.138
263996312015Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.98

Citation

Dessen P

H3-3A (H3.3 histone A)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53228/h3-3a