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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Core histone macro-H2A.1 (Histone macroH2A1, mH2A1) infosheet
UniprotKB AccessionO75367
Alternative Name(s)Histone H2A.y (H2A/y), Medulloblastoma antigen MU-MB-50.205
No. of coding genesCore histone macro-H2A.1 is coded by following 1 non-allelic gene/s
Gene nameH2A histone family, member Y
Gene symbolH2AFY
Promoter region (-700 TSS +300)Get sequence
Previous Symbol/s
Chromosomal location5q31.1
RefSeq mRNANM_001040158.1NM_004893.2NM_138609.2NM_138610.2
RefSeq ProteinNP_001035248.1NP_004884.1NP_613075.1NP_613258.2
Disease associations
Neurological disorderHuntington disease (HD)21969577

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