GENERAL INFORMATIONi
Gene namei MACROH2A1
Synonyms H2AFY, macroH2A1.2
Gene descriptioni MacroH2A.1 histone
Protein classi Plasma proteins
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 5
Cytoband q31.1
Chromosome location (bp) 135334381 - 135399914
Number of transcriptsi 6
Ensembl ENSG00000113648 (version 109)
Entrez gene 9555
HGNC HGNC:4740
UniProt O75367 (UniProt - Evidence at protein level)
neXtProt NX_O75367
GeneCards MACROH2A1
Antibodypedia MACROH2A1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription 1, 2, 3. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template 4. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability 5. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation 6. Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes 7, 8. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin 9, 10. show less
Molecular function (UniProt)i Chromatin regulator, DNA-binding
Gene summary (Entrez)i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
MACROH2A1-201
ENSP00000302572
ENST00000304332
O75367
[Direct mapping] Core histone macro-H2A.1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000182 [rDNA binding]
GO:0000228 [nuclear chromosome]
GO:0000781 [chromosome, telomeric region]
GO:0000785 [chromatin]
GO:0000786 [nucleosome]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0001739 [sex chromatin]
GO:0001740 [Barr body]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005721 [pericentric heterochromatin]
GO:0005730 [nucleolus]
GO:0006325 [chromatin organization]
GO:0006334 [nucleosome assembly]
GO:0007549 [dosage compensation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0019216 [regulation of lipid metabolic process]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030291 [protein serine/threonine kinase inhibitor activity]
GO:0030527 [structural constituent of chromatin]
GO:0031490 [chromatin DNA binding]
GO:0031492 [nucleosomal DNA binding]
GO:0034184 [positive regulation of maintenance of mitotic sister chromatid cohesion]
GO:0040029 [epigenetic regulation of gene expression]
GO:0043229 [intracellular organelle]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045815 [transcriptional initiation-coupled chromatin remodeling]
GO:0046982 [protein heterodimerization activity]
GO:0070062 [extracellular exosome]
GO:0071169 [establishment of protein localization to chromatin]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:1901837 [negative regulation of transcription of nucleolar large rRNA by RNA polymerase I]
GO:1902750 [negative regulation of cell cycle G2/M phase transition]
GO:1902882 [regulation of response to oxidative stress]
GO:1903226 [positive regulation of endodermal cell differentiation]
GO:1904815 [negative regulation of protein localization to chromosome, telomeric region]
GO:1990841 [promoter-specific chromatin binding]
Show all
 371 aa
39.5 kDa 		No 0
MACROH2A1-202
ENSP00000310169
ENST00000312469
O75367
[Direct mapping] Core histone macro-H2A.1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000182 [rDNA binding]
GO:0000228 [nuclear chromosome]
GO:0000781 [chromosome, telomeric region]
GO:0000785 [chromatin]
GO:0000786 [nucleosome]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0001739 [sex chromatin]
GO:0001740 [Barr body]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005721 [pericentric heterochromatin]
GO:0005730 [nucleolus]
GO:0006325 [chromatin organization]
GO:0006334 [nucleosome assembly]
GO:0007549 [dosage compensation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0019216 [regulation of lipid metabolic process]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030291 [protein serine/threonine kinase inhibitor activity]
GO:0030527 [structural constituent of chromatin]
GO:0031490 [chromatin DNA binding]
GO:0031492 [nucleosomal DNA binding]
GO:0034184 [positive regulation of maintenance of mitotic sister chromatid cohesion]
GO:0040029 [epigenetic regulation of gene expression]
GO:0043229 [intracellular organelle]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045815 [transcriptional initiation-coupled chromatin remodeling]
GO:0046982 [protein heterodimerization activity]
GO:0070062 [extracellular exosome]
GO:0071169 [establishment of protein localization to chromatin]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:0072570 [ADP-D-ribose binding]
GO:0160002 [ADP-D-ribose modification-dependent protein binding]
GO:1901837 [negative regulation of transcription of nucleolar large rRNA by RNA polymerase I]
GO:1902688 [regulation of NAD metabolic process]
GO:1902750 [negative regulation of cell cycle G2/M phase transition]
GO:1902882 [regulation of response to oxidative stress]
GO:1902884 [positive regulation of response to oxidative stress]
GO:1903226 [positive regulation of endodermal cell differentiation]
GO:1904815 [negative regulation of protein localization to chromosome, telomeric region]
GO:1990841 [promoter-specific chromatin binding]
Show all
 369 aa
39.2 kDa 		No 0
MACROH2A1-204
ENSP00000415121
ENST00000423969
B4DJC3
[Direct mapping] Histone H2A
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000786 [nucleosome]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0030527 [structural constituent of chromatin]
GO:0046982 [protein heterodimerization activity]
Show all
 200 aa
21.5 kDa 		No 0
MACROH2A1-215
ENSP00000424971
ENST00000510038
O75367
[Direct mapping] Core histone macro-H2A.1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000182 [rDNA binding]
GO:0000228 [nuclear chromosome]
GO:0000781 [chromosome, telomeric region]
GO:0000785 [chromatin]
GO:0000786 [nucleosome]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0001739 [sex chromatin]
GO:0001740 [Barr body]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005721 [pericentric heterochromatin]
GO:0005730 [nucleolus]
GO:0006325 [chromatin organization]
GO:0006334 [nucleosome assembly]
GO:0007549 [dosage compensation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0019216 [regulation of lipid metabolic process]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030291 [protein serine/threonine kinase inhibitor activity]
GO:0030527 [structural constituent of chromatin]
GO:0031490 [chromatin DNA binding]
GO:0031492 [nucleosomal DNA binding]
GO:0034184 [positive regulation of maintenance of mitotic sister chromatid cohesion]
GO:0040029 [epigenetic regulation of gene expression]
GO:0043229 [intracellular organelle]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045815 [transcriptional initiation-coupled chromatin remodeling]
GO:0046982 [protein heterodimerization activity]
GO:0070062 [extracellular exosome]
GO:0071169 [establishment of protein localization to chromatin]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:1901837 [negative regulation of transcription of nucleolar large rRNA by RNA polymerase I]
GO:1902750 [negative regulation of cell cycle G2/M phase transition]
GO:1902882 [regulation of response to oxidative stress]
GO:1902883 [negative regulation of response to oxidative stress]
GO:1903226 [positive regulation of endodermal cell differentiation]
GO:1904815 [negative regulation of protein localization to chromosome, telomeric region]
GO:1990841 [promoter-specific chromatin binding]
Show all
 372 aa
39.6 kDa 		No 0
MACROH2A1-217
ENSP00000423563
ENST00000511689
O75367
[Direct mapping] Core histone macro-H2A.1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000182 [rDNA binding]
GO:0000228 [nuclear chromosome]
GO:0000781 [chromosome, telomeric region]
GO:0000785 [chromatin]
GO:0000786 [nucleosome]
GO:0000793 [condensed chromosome]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0001739 [sex chromatin]
GO:0001740 [Barr body]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005721 [pericentric heterochromatin]
GO:0005730 [nucleolus]
GO:0006325 [chromatin organization]
GO:0006334 [nucleosome assembly]
GO:0007549 [dosage compensation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0019216 [regulation of lipid metabolic process]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030291 [protein serine/threonine kinase inhibitor activity]
GO:0030527 [structural constituent of chromatin]
GO:0031490 [chromatin DNA binding]
GO:0031492 [nucleosomal DNA binding]
GO:0034184 [positive regulation of maintenance of mitotic sister chromatid cohesion]
GO:0040029 [epigenetic regulation of gene expression]
GO:0043229 [intracellular organelle]
GO:0045618 [positive regulation of keratinocyte differentiation]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045815 [transcriptional initiation-coupled chromatin remodeling]
GO:0046982 [protein heterodimerization activity]
GO:0070062 [extracellular exosome]
GO:0071169 [establishment of protein localization to chromatin]
GO:0071901 [negative regulation of protein serine/threonine kinase activity]
GO:1901837 [negative regulation of transcription of nucleolar large rRNA by RNA polymerase I]
GO:1902750 [negative regulation of cell cycle G2/M phase transition]
GO:1902882 [regulation of response to oxidative stress]
GO:1902883 [negative regulation of response to oxidative stress]
GO:1903226 [positive regulation of endodermal cell differentiation]
GO:1904815 [negative regulation of protein localization to chromosome, telomeric region]
GO:1990841 [promoter-specific chromatin binding]
Show all
 372 aa
39.6 kDa 		No 0
MACROH2A1-219
ENSP00000515857
ENST00000513210
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000786 [nucleosome]
GO:0003677 [DNA binding]
GO:0030527 [structural constituent of chromatin]
GO:0046982 [protein heterodimerization activity]
Show all
 199 aa
21 kDa 		No 0

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