MACROH2A1 (macroH2A.1 histone)

2019-08-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
H2A.y,H2A/y,H2AF12M,H2AFY,MACROH2A1.1,mH2A1,macroH2A1.2

Other Information

Locus ID:

NCBI: 9555
MIM: 610054
HGNC: 4740
Ensembl: ENSG00000113648

Variants:

dbSNP: 9555
ClinVar: 9555
TCGA: ENSG00000113648
COSMIC: MACROH2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113648ENST00000304332O75367
ENSG00000113648ENST00000312469O75367
ENSG00000113648ENST00000423969B4DJC3
ENSG00000113648ENST00000506671D6RCF2
ENSG00000113648ENST00000510038O75367
ENSG00000113648ENST00000511689O75367

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034

References

Pubmed IDYearTitleCitations
196802432009A macrodomain-containing histone rearranges chromatin upon sensing PARP1 activation.175
211791672010The histone variant macroH2A suppresses melanoma progression through regulation of CDK8.145
158974692005Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase.115
196489622009Histone macroH2A isoforms predict the risk of lung cancer recurrence.77
200089272010The histone variant macroH2A1 marks repressed autosomal chromatin, but protects a subset of its target genes from silencing.77
171587482006The histone variant mH2A1.1 interferes with transcription by down-regulating PARP-1 enzymatic activity.73
218442272011QKI-mediated alternative splicing of the histone variant MacroH2A1 regulates cancer cell proliferation.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
223914472012ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression.48
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45

Citation

Dessen P

MACROH2A1 (macroH2A.1 histone)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58143/macroh2a1