H4C5 (H4 clustered histone 5)

2014-01-01  

Identity

HGNC
H4C5
LOCATION
6p22.2
LOCUSID
8367
ALIAS
H4-16,H4/j,H4C1,H4C11,H4C12,H4C13,H4C14,H4C15,H4C2,H4C3,H4C4,H4C6,H4C8,H4C9,H4FJ,HIST1H4E

Other Information

Locus ID:

NCBI: 8367
MIM: 602830
HGNC: 4790
Ensembl: ENSG00000276966

Variants:

dbSNP: 8367
ClinVar: 8367
TCGA: ENSG00000276966
COSMIC: H4C5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000276966ENST00000615164P62805
ENSG00000276966ENST00000615164B2R4R0

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
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 CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Condensation of Prophase ChromosomesREACTOMER-HSA-2299718
Chromosome MaintenanceREACTOMER-HSA-73886
Nucleosome assemblyREACTOMER-HSA-774815
Deposition of new CENPA-containing nucleosomes at the centromereREACTOMER-HSA-606279
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
Meiotic synapsisREACTOMER-HSA-1221632
Developmental BiologyREACTOMER-HSA-1266738
DNA RepairREACTOMER-HSA-73894
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586
Senescence-Associated Secretory Phenotype (SASP)REACTOMER-HSA-2559582
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
HDACs deacetylate histonesREACTOMER-HSA-3214815
HDMs demethylate histonesREACTOMER-HSA-3214842
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
RMTs methylate histone argininesREACTOMER-HSA-3214858
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
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
369877122023H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.1
369877122023H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.1

Citation

Dessen P

H4C5 (H4 clustered histone 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53759