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
365735602023Histone variant H3.3 promotes metastasis in alveolar rhabdomyosarcoma.2
366174522023The clinicopathological features and prognosis of multifocal high-grade gliomas in adults with H3F3A mutation.3
380665462023Pediatric glioma histone H3.3 K27M/G34R mutations drive abnormalities in PML nuclear bodies.3
365735602023Histone variant H3.3 promotes metastasis in alveolar rhabdomyosarcoma.2
366174522023The clinicopathological features and prognosis of multifocal high-grade gliomas in adults with H3F3A mutation.3
380665462023Pediatric glioma histone H3.3 K27M/G34R mutations drive abnormalities in PML nuclear bodies.3
343476252022Reliability and Role of Mutation-specific H3F3A (Histone 3-3) G34W Immunohistochemistry to Differentiate Giant Cell Tumor of Bone From its Clinicoradiologic and Histologic Mimics: An Institutional Study.2
347824252022Gene of the month: H3F3A and H3F3B.7
350551562022Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.6
356374822022The H3K27M mutation alters stem cell growth, epigenetic regulation, and differentiation potential.14
357728012022Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.1
343476252022Reliability and Role of Mutation-specific H3F3A (Histone 3-3) G34W Immunohistochemistry to Differentiate Giant Cell Tumor of Bone From its Clinicoradiologic and Histologic Mimics: An Institutional Study.2
347824252022Gene of the month: H3F3A and H3F3B.7
350551562022Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.6
356374822022The H3K27M mutation alters stem cell growth, epigenetic regulation, and differentiation potential.14

Citation

Dessen P

H3-3A (H3.3 histone A)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53228