Core histone macro-H2A.1
Levels of macroH2A1 decrease significantly in malignant cells that suggests that it plays a role in tumor suppression (PMID: 21179167). It has a unique role in transcriptional regulation; reports suggest that although it marks the repressive regions of the chromatin, it is actually involved in signal dependent transcriptional activation (PMID: 20008927). It is also reported to regulate the expression of HOXA cluster genes in pluripotent cells along with macroH2A2 (PMID: 19734898). It plays a major role in the repression of transcription and inactivation of X chromosome by recruitment of other factors like PARP-1 (PMID: 17322296, PMID: 15897469).
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| UniprotKB Accession | O75367 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Alternative Name(s) | Histone H2A.y (H2A/y), Medulloblastoma antigen MU-MB-50.205 | |||||||||
| No. of coding genes | Core histone macro-H2A.1 is coded by following 1 non-allelic gene/s | |||||||||
| Gene name | H2A histone family, member Y | |||||||||
| Gene symbol | H2AFY | |||||||||
| Promoter region (-700 TSS +300) | Get sequence | |||||||||
| Previous Symbol/s | ||||||||||
| Aliases | macroH2A1.2 | |||||||||
| GeneID | 9555 | |||||||||
| Chromosomal location | 5q31.1 | |||||||||
| HGNC | 4740 | |||||||||
| Unigene | Hs.420272 | |||||||||
| MIM | 610054 | |||||||||
| RefSeq mRNA | NM_001040158.1 | NM_004893.2 | NM_138609.2 | NM_138610.2 | ||||||
| RefSeq Protein | NP_001035248.1 | NP_004884.1 | NP_613075.1 | NP_613258.2 | ||||||
| Disease associations |
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Histone H2A variants Core histone macro-H2A.1, Core histone macro-H2A.2, Histone H2A type 1, Histone H2A type 1-A, Histone H2A type 1-B/E, Histone H2A type 1-C, Histone H2A type 1-D, Histone H2A type 1-H, Histone H2A type 1-J, Histone H2A type 2-A, Histone H2A type 2-B, Histone H2A type 2-C, Histone H2A type 3, Histone H2A-Bbd type 1, Histone H2A-Bbd type 2/3, Histone H2A.J, Histone H2A.V, Histone H2A.x, Histone H2A.Z